HEMA
MCID: HMP029
MIFTS: 69

Hemophilia a (HEMA)

Categories: Blood diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hemophilia a

MalaCards integrated aliases for Hemophilia a:

Name: Hemophilia a 57 73 25 20 58 72 13 54 6 39 70
Factor Viii Deficiency 25 20 58 72 70
Hemophilia, Classic 57 20
Factor 8 Deficiency 20 72
Classic Hemophilia 20 72
Mild Hemophilia a 58 6
Hema 57 72
Symptomatic Form of Hemophilia a in Female Carriers 58
Severe Hereditary Factor Viii Deficiency Disease 70
Mild Hereditary Factor Viii Deficiency Disease 70
Moderately Severe Factor Viii Deficiency 58
Moderately Severe Hemophilia a 58
Severe Factor Viii Deficiency 58
Mild Factor Viii Deficiency 58
Hemophilia a, Congenital 20
Classical Hemophilia 20
Severe Hemophilia a 58
Fviii Deficiency 58
Haemophilia a 20
Hem a 20

Characteristics:

Orphanet epidemiological data:

58
hemophilia a
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (France),1-9/100000 (Europe); Age of onset: Infancy,Neonatal;
mild hemophilia a
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;
severe hemophilia a
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;
moderately severe hemophilia a
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;
symptomatic form of hemophilia a in female carriers
Inheritance: X-linked recessive;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
persistent bleeding after trauma
partial factor viii deficiency in heterozygous carriers

Inheritance:
x-linked recessive


HPO:

31
hemophilia a:
Inheritance x-linked recessive inheritance


GeneReviews:

25
Penetrance All males with an f8 pathogenic variant will be affected and will have approximately the same severity of disease as other affected males in the family. however, other genetic and environmental effects may modify the clinical severity to some extent....

Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Hemophilia a

GARD : 20 Hemophilia A is an inherited bleeding disorder in which the blood does not clot normally. People with hemophilia A will bleed more than normal after an injury, surgery, or dental procedure. This disorder can be severe, moderate, or mild. In severe cases, heavy bleeding occurs after minor injury or even when there is no injury (spontaneous bleeding). Bleeding into the joints, muscles, brain, or organs can cause pain and other serious complications. In milder forms, there is no spontaneous bleeding, and the disorder might only be diagnosed after a surgery or serious injury. Hemophilia A is caused by having low levels of a protein called factor VIII. Factor VIII is needed to form blood clots. The disorder is inherited in an X-linked recessive manner and is caused by changes ( mutations ) in the F8 gene. The diagnosis of hemophilia A is made through clinical symptoms and specific laboratory tests to measure the amount of clotting factors in the blood. The main treatment is replacement therapy, during which clotting factor VIII is dripped or injected slowly into a vein. Hemophilia A mainly affects males. With treatment, most people with this disorder do well. Some people with severe hemophilia A may have a shortened lifespan due to the presence of other health conditions and rare complications of the disorder.

MalaCards based summary : Hemophilia a, also known as factor viii deficiency, is related to von willebrand disease, type 3 and von willebrand disease, type 2. An important gene associated with Hemophilia a is F8 (Coagulation Factor VIII), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Ferrous fumarate and Iron have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and endothelial, and related phenotypes are arthralgia and joint swelling

OMIM® : 57 Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (193400), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001). (306700) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Hemophilia A: A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery.

Wikipedia : 73 Haemophilia A (or hemophilia A) is a genetic deficiency in clotting factor VIII, which causes increased... more...

GeneReviews: NBK1404

Related Diseases for Hemophilia a

Diseases in the Hemophilia family:

Hemophilia a Hemophilia B
Acquired Hemophilia Acquired Hemophilia a

Diseases related to Hemophilia a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 648)
# Related Disease Score Top Affiliating Genes
1 von willebrand disease, type 3 31.7 VWF F8
2 von willebrand disease, type 2 31.7 VWF F8
3 von willebrand disease, type 1 31.7 VWF F8
4 acquired hemophilia a 31.3 F9 F8A1 F8 F5 F3
5 hemophilia 31.3 LOC106146152 LOC106146151 LOC106146150 LOC106146144 LOC106146143 F9
6 hemophilia b 31.0 VWF F9 F8 F7 F3
7 factor v and factor viii, combined deficiency of, 2 30.8 F8 F5
8 thrombotic microangiopathy 30.5 VWF F3
9 acquired hemophilia 30.4 F9 F8A1 F8 F5 F3
10 compartment syndrome 30.3 F8 F7 F3
11 factor viii deficiency 30.3 VWF LOC106146150 FUNDC2 F9 F8A1 F8
12 von willebrand's disease 30.2 VWF F9 F8 F7 F3
13 hemarthrosis 30.0 VWF F9 F8 F7 F3
14 hemopericardium 30.0 F9 F3
15 aortic valve insufficiency 29.8 VWF F3
16 carotid artery thrombosis 29.7 VWF F3
17 factor vii deficiency 29.6 F9 F8 F7 F3
18 angiodysplasia 29.6 VWF F8 F3
19 intermediate coronary syndrome 29.5 VWF F3
20 acute myocardial infarction 29.5 VWF F7 F3
21 thrombophilia due to thrombin defect 29.5 VWF F8 F5 F3
22 active peptic ulcer disease 29.5 VWF F7 F3
23 x-linked recessive disease 29.5 VWF F9 F8 F3
24 portal vein thrombosis 29.5 F7 F5
25 pulmonary embolism 29.4 VWF F9 F8 F5 F3
26 intracranial hypertension 29.4 F9 F5 F3
27 vascular disease 29.4 VWF F8 F5 F3
28 cardiac tamponade 29.3 F9 F8 F7 F3
29 moyamoya disease 1 29.3 VWF FUNDC2 F3
30 acquired von willebrand syndrome 29.3 VWF F8 F7 F3
31 peripheral vascular disease 29.3 VWF F5 F3
32 afibrinogenemia, congenital 29.3 VWF F8 F7 F3
33 thrombocytopenia 29.3 VWF F9 F8 F7 F5 F3
34 thrombosis 29.2 VWF F9 F8 F7 F5 F3
35 hemorrhagic disease 29.2 VWF F9 F8 F7 F5 F3
36 intracranial thrombosis 29.2 VWF F8 F5 F3
37 thrombophilia due to activated protein c resistance 29.2 VWF F8 F5 F3
38 blood platelet disease 29.1 VWF F8 F7 F3
39 disseminated intravascular coagulation 29.0 VWF F9 F7 F5 F3
40 cerebrovascular disease 29.0 VWF F8 F7 F5
41 factor x deficiency 28.9 F9 F7 F5 F3
42 thrombophilia 28.8 VWF F9 F8 F7 F5 F3
43 factor xii deficiency 28.8 VWF F9 F7 F5 F3
44 myocardial infarction 28.8 VWF F9 F8 F7 F5 F3
45 blood coagulation disease 28.7 VWF F9 F8 F7 F5 F3
46 thrombophlebitis 28.7 VWF F8 F7 F5 F3
47 stroke, ischemic 28.5 VWF F9 F7 F5 F3
48 factor v deficiency 28.4 VWF F9 F8 F7 F5 F3
49 factor xi deficiency 28.4 VWF F9 F8 F7 F5 F3
50 immunodeficiency 32a 11.5

Comorbidity relations with Hemophilia a via Phenotypic Disease Network (PDN):


Deficiency Anemia

Graphical network of the top 20 diseases related to Hemophilia a:



Diseases related to Hemophilia a

Symptoms & Phenotypes for Hemophilia a

Human phenotypes related to Hemophilia a:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 58 31 occasional (7.5%) Very frequent (99-80%),Frequent (79-30%),Occasional (29-5%) HP:0002829
2 joint swelling 58 31 frequent (33%) Very frequent (99-80%),Occasional (29-5%),Frequent (79-30%) HP:0001386
3 bruising susceptibility 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000978
4 bleeding with minor or no trauma 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0011889
5 reduced factor viii activity 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0003125
6 prolonged partial thromboplastin time 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%),Very frequent (99-80%) HP:0003645
7 epistaxis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000421
8 gingival bleeding 58 31 frequent (33%) Frequent (79-30%) HP:0000225
9 spontaneous hematomas 58 31 very rare (1%) Frequent (79-30%),Very rare (<4-1%),Very rare (<4-1%) HP:0007420
10 poor wound healing 58 31 frequent (33%) Frequent (79-30%) HP:0001058
11 thromboembolism 58 31 frequent (33%) Frequent (79-30%) HP:0001907
12 menorrhagia 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0000132
13 post-partum hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0011891
14 oral cavity bleeding 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0030140
15 intramuscular hematoma 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Occasional (29-5%) HP:0012233
16 joint hemorrhage 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%),Occasional (29-5%),Frequent (79-30%) HP:0005261
17 persistent bleeding after trauma 58 31 frequent (33%) Frequent (79-30%) HP:0001934
18 prolonged bleeding after dental extraction 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0006298
19 prolonged bleeding after surgery 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0004846
20 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
21 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
22 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0002239
23 abnormality of the elbow 58 31 occasional (7.5%) Occasional (29-5%) HP:0009811
24 headache 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002315
25 limitation of joint mobility 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001376
26 cartilage destruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0100773
27 synovitis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0100769
28 arthropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003040
29 macroscopic hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0012587
30 cephalohematoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012541
31 intraventricular hemorrhage 58 31 very rare (1%) Occasional (29-5%),Very rare (<4-1%) HP:0030746
32 prolonged bleeding following circumcision 58 31 occasional (7.5%) Occasional (29-5%) HP:0030137
33 limb joint contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0003121
34 epidural hemorrhage 58 31 occasional (7.5%) Very rare (<4-1%),Occasional (29-5%) HP:0100310
35 subdural hemorrhage 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0100309
36 progressive joint destruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005187
37 reduced von willebrand factor activity 58 31 occasional (7.5%) Occasional (29-5%) HP:0008330
38 hip contracture 58 31 very rare (1%) Very rare (<4-1%) HP:0003273
39 splenic rupture 58 31 very rare (1%) Very rare (<4-1%) HP:0012223
40 seizure 31 very rare (1%) HP:0001250
41 seizures 58 Very rare (<4-1%)
42 intracranial hemorrhage 58 Very rare (<4-1%),Occasional (29-5%),Occasional (29-5%)
43 osteoarthritis 31 HP:0002758
44 subcutaneous hemorrhage 58 Frequent (79-30%)
45 abnormal bleeding 58 Very frequent (99-80%),Frequent (79-30%)
46 prolonged bleeding following procedure 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
factor viii deficiency
platelet count normal
ptt prolonged
pt normal
bleeding time normal
more
Skeletal Limbs:
hemarthroses
degenerative joint disease

Skin Nails Hair Skin:
ecchymoses common
petechiae and purpura do not occur

Clinical features from OMIM®:

306700 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hemophilia a

Drugs for Hemophilia a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 274)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ferrous fumarate Approved Phase 4 141-01-5
2
Iron Approved Phase 4 7439-89-6 23925 29936
3
tannic acid Approved Phase 4 1401-55-4
4
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
5
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
6
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
7
Zidovudine Approved Phase 4 30516-87-1 35370
8
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
9
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
10
Didanosine Approved Phase 4 69655-05-6 50599
11
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
12
Indinavir Approved Phase 4 150378-17-9 5362440
13
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
14
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
15
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
16
Ribavirin Approved Phase 4 36791-04-5 37542
17
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
18
Voriconazole Approved Phase 4 137234-62-9 71616
19
Anti-inhibitor coagulant complex Approved, Investigational Phase 4
20
mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7
21
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
22 Trace Elements Phase 4
23 Micronutrients Phase 4
24 Chelating Agents Phase 4
25 Iron Chelating Agents Phase 4
26 Iron Supplement Phase 4
27 Vasopressins Phase 4
28 Deamino Arginine Vasopressin Phase 4
29 Arginine Vasopressin Phase 4
30
protease inhibitors Phase 4
31 HIV Protease Inhibitors Phase 4
32 Anti-Infective Agents Phase 4
33 Antimetabolites Phase 4
34 Antifungal Agents Phase 4
35 Hormone Antagonists Phase 4
36 Hormones Phase 4
37 Anti-Retroviral Agents Phase 4
38 Antiviral Agents Phase 4
39 Anti-HIV Agents Phase 4
40 Reverse Transcriptase Inhibitors Phase 4
41 Cytochrome P-450 Enzyme Inhibitors Phase 4
42 Hylan Phase 4
43 Triamcinolone diacetate Phase 4
44 triamcinolone acetonide Phase 4
45 Triamcinolone hexacetonide Phase 4
46 interferons Phase 4
47 Interferon-alpha Phase 4
48 Cytochrome P-450 CYP3A Inhibitors Phase 4
49 Antibodies, Bispecific Phase 4
50 Hemostatics Phase 4

Interventional clinical trials:

(show top 50) (show all 724)
# Name Status NCT ID Phase Drugs
1 DDAVP vs Exercise in Patients With Mild Hemophilia A - Which is Better and do They Work Synergistically in Improving Hemostasis? Unknown status NCT03136003 Phase 4 DDAVP
2 Subclinical Joint Bleeding in Irish Adults With Severe Haemophilia A on Personalised Prophylaxis Regimens Unknown status NCT02314325 Phase 4 ADVATE [Antihemophilic Factor (Recombinant)];ADVATE [Antihemophilic Factor (Recombinant)]
3 IMMUNE TOLERANCE INDUCTION, BY FACTOR VIII CONCENTRATE CONTAINING VON WILLEBRAND FACTOR, IN SEVERE OR MODERATE HAEMOPHILIA A PATIENTS WITH INHIBITORS Unknown status NCT02479087 Phase 4 Plasma-derived FVIII/VWF concentrate
4 Hematology Oncology Center Unknown status NCT02999308 Phase 4
5 Beijing Children's Hospital, Capital Medical University Unknown status NCT03598725 Phase 4 Coagulation Factor VIII;Prednisone;Rituximab
6 Amino Acid Chelated Iron Versus Ferrous Fumarate in the Treatment of Iron Deficiency Anemia With Pregnancy: Randomized Controlled Trial Unknown status NCT03830034 Phase 4 Amino Acid chelated iron tab 15 mg;Ferrous Fumarate tab 350 mg( 115 mg elemental iron)
7 A SINGLE COUNTRY, MULTICENTER, OPEN-LABEL AND NON-RANDOMIZED CLINICAL TRIAL WITH MOROCTOCOG ALFA (AF-CC) PROPHYLAXIS AND TREATMENT OF BLEEDING EPISODES IN PREVIOUSLY TREATED PATIENTS WITH MODERATE AND SEVERE HEMOPHILIA A FOR A DURATION OF 8 WEEKS Completed NCT04396639 Phase 4
8 Antihemophilic Factor (Recombinant) Plasma/Albumin-Free Method (rAHF PFM): A Phase 3/4, Prospective, Controlled, Randomized, Multi-Center Study to Compare the Efficacy and Safety of Continuous Infusion (CI) Versus Intermittent Bolus Infusion (BI) in Subjects With Severe or Moderately Severe Hemophilia A Undergoing Major Orthopedic Surgery Completed NCT00357656 Phase 4 Recombinant Protein-Free Factor VIII (rAHF-PFM);Recombinant Protein-Free Factor VIII (rAHF-PFM)
9 Advate Antihemophilic Factor (Recombinant), Plasma/Albumin Free Method (ADVATE rAHF-PFM): A Phase 4 Study Comparing Two Prophylactic Regimens in Subjects With Severe or Moderately Severe Hemophilia A Completed NCT00243386 Phase 4 Antihemophilic factor, recombinant, manufactured protein-free;Antihemophilic factor, recombinant, manufactured protein-free
10 Whole Blood Clot Stability and Thrombin Generating Capacity Following Treatment With Bypassing Agents (BPA) With and Without and Tranexamic Acid (TXA) in Haemophilia A Patients With inhibitor-an In-vivo Prospective Crossover Study Completed NCT01800435 Phase 4 aPCC, aPCC + TXA;rFVIIa, rFVIIa + TXA
11 A SINGLE COUNTRY, MULTICENTER, OPEN-LABEL AND NON-RANDOMIZED CLINICAL TRIAL WITH NONACOG ALFA PROPHYLAXIS AND TREATMENT OF BLEEDING EPISODES IN PREVIOUSLY TREATED PATIENTS WITH MODERATELY-SEVERE TO SEVERE HEMOPHILIA B FOR A DURATION OF 8 WEEKS. Completed NCT04286412 Phase 4
12 Moderate Term Musculoskeletal Outcomes With Escalating Dose Prophylaxis: the Canadian Hemophilia Prophylaxis Study Follow-up Study Completed NCT01085344 Phase 4
13 An Open-Label, Randomized, Parallel, Multicenter Trial Comparing the Safety and Efficacy of rFVIIa When Administered as i.v. Bolus or i.v. Continuous Infusion to Hemophiliacs With Inhibitors During and After Major Surgery Completed NCT01561391 Phase 4 activated recombinant human factor VII;activated recombinant human factor VII;factor VIII
14 Exercise Versus DDAVP in Patients With Mild Hemophilia A - is One Non-inferior to the Other and do They Work Additively in Improving Hemostasis? Completed NCT03379974 Phase 4 DDAVP Inhalant Product
15 Advate Antihemophilic Factor (Recombinant), Plasma/Albumin-Free Method (ADVATE rAHF-PFM): A Phase 4 Study to Determine the Pharmacokinetic Response of Patients Diagnosed With Severe Hemophilia A to Different Doses of ADVATE rAHF-PFM Completed NCT00289536 Phase 4
16 Combination Therapy of Low Doses of rFVIIa and FEIBA for Severe Hemophilia A Patients With an Inhibitor to Factor VIII Completed NCT00284193 Phase 4 rFVIIa-FEIBA therapy for hemophilia A inhibitors;FEIBA- Activated Prothrombin Complexes
17 Routine Prophylaxis Treatment Versus On-demand Treatment for Children With Severe Hemophilia A: Comparison of All Bleeding Events in Chinese Hemophilia Patients Completed NCT01810666 Phase 4
18 A Non-controlled, Open-Label, Multicenter, Study of Efficacy of rFVIIIFc for Immune Tolerance Induction (ITI) in Severe Hemophilia A Subjects With Inhibitors Undergoing the First ITI Treatment Completed NCT03093480 Phase 4
19 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
20 Pharmacokinetic Comparison of 3000 IU Advate (rAHF-PFM) (Using One 3000 IU Potency Vial) With 3000 IU Advate (rAHF PFM) (Using Two 1500 IU Potency Vials) in Previously Treated Patients With Severe Hemophilia A: a Phase 4, Open-label, Prospective, Randomized, Controlled, Crossover, Multiple Center Study Completed NCT00916032 Phase 4
21 A Diagnostic Interventional, Controlled, Cross-sectional Evaluation of Joint Status Using Magnetic Resonance Imaging in Subjects With Severe Hemophilia A Treated With Primary Prophylaxis, Secondary Prophylaxis, or On-demand Therapy Completed NCT00927667 Phase 4
22 Pharmacokinetic Comparison of Advate rAHF-PFM With Recombinate rAHF in Patients With Severe Hemophilia A: a Phase IV, Prospective, Randomized, Controlled, Cross-over, Single Center Study Completed NCT00666406 Phase 4 Antihemophilic Factor (Recombinant) - Plasma/Albumin Free Method (rAHF-PFM);Recombinant Factor VIII (rAHF)
23 A Non-randomized, Open-label Study To Evaluate The Pharmacokinetics, Safety And Efficacy Of Refacto Af In Previously Treated Pediatric Subjects Less Than Twelve Years Of Age With Severe Hemophilia A (Fviii:c <1%). Completed NCT00914459 Phase 4
24 Efficacy and Cost Effectiveness of Standard Versus Pharmacokinetic Dosing During Factor VIII Prophylaxis in Adult Patients With Severe Haemophilia A Completed NCT02697370 Phase 4 Pharmacokinetic based dosage change
25 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
26 A Prospective Controlled Study on the Effect on Bleeding Events and Joint Function in Young Adults With Severe Hemophilia A After a 6 Month Prophylaxis Treatment Compared to on Demand Treatment Completed NCT00586521 Phase 4 Kogenate (BAY14-2222)
27 A Non-Controlled, Open-Label, Multicenter, Study of Immune Tolerance Induction Performed With rFVIIIFc Within a Timeframe of 60 Weeks in Severe Haemophilia A Patients With Inhibitors Who Have Failed Previous Immune Tolerance Induction Therapies Completed NCT03103542 Phase 4
28 Safety of Turoctocog Alfa for Prophylaxis and Treatment of Bleeding Episodes in Previously Treated Patients With Moderate or Severe Haemophilia A in India Completed NCT03449342 Phase 4 turoctocog alfa
29 Post Marketing Study in Haemophilia B Patients Using Nonafact® 100 IU/ml Powder and Solvent for Solution for Injection(Human Coagulation Factor IX)(Human Plasma Derived Factor IX Product, Freeze Dried) Completed NCT00139828 Phase 4 human coagulation Factor IX
30 NovoSeven® (rFVIIa) by Single Dose for Home Treatment of Joint Bleeds in Haemophilia Patients With Inhibitors: A Pilot, Double-Blind Study Versus Standard Multiple Doses of NovoSeven® and Open-Label FEIBA® Completed NCT00108797 Phase 4 eptacog alfa (activated);Feiba VH
31 rFVIIa (NovoSeven®) for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors: A Double-blind Study of a Single High Dose Versus Standard Multiple Doses of rFVIIa Completed NCT00571584 Phase 4 activated recombinant human factor VII
32 A Phase IV Study of the Safety and Efficacy of ReFacto® (Moroctocog Alfa, B-Domain Deleted Recombinant Factor VIII) in Subjects With Hemophilia A Undergoing Major Surgery Monitored Using the Chromogenic Substrate Assay at the Local Laboratory Completed NCT00092976 Phase 4 ReFacto
33 Inhibitor Development in Previously Untreated Patients (PUPs) or Minimally Blood Component-Treated Patients (MBCTPs) When Exposed to Plasma-derived Von Willebrand Factor-Containing Factor VIII (VWF/FVIII) Concentrates and to Recombinant Factor VIII (rFVIII) Concentrates: An Independent, International, Multicentre, Prospective, Controlled, Randomised, Open Label, Clinical Trial Completed NCT01064284 Phase 4 PLASMA DERIVED Factor VIII;Recombinant FVIII
34 An Open-label, Single-arm, Post- Authorization Pragmatic Clinical Trial On The Safety And Efficacy Of Xyntha (Moroctocog-alfa (Af-cc), Recombinant Fviii) In Subjects With Hemophilia A In Usual Care Settings In China Completed NCT02492984 Phase 4 Intravenous infusions of Xyntha
35 Study to Evaluate Efficacy and Safety of ADVATE in the Treatment of Previously Treated Patients With Hemophilia A Completed NCT02170402 Phase 4
36 A Prospective Study to Evaluate the Effect of rFVIII-FS in Different Prophylactic Regimens on Bleeding Events Frequency and Development of Arthropathy in Previously Treated and Minimally Treated Hemophilia A Pediatric Population. Completed NCT00632814 Phase 4 rFVIII-FS (Kogenate FS, BAY14-2222) 70 IU/kg, dosing once per week;rFVIII-FS (Kogenate FS, BAY14-2222), 70 IU/kg twice per week (30 IU/kg + 40 IU/kg);rFVIII-FS (Kogenate FS, BAY14-2222) 75 IU/kg, dosing three times per week (3 x 25 IU/kg)
37 AN OPEN-LABEL STUDY OF THE SAFETY AND EFFICACY OF REFACTO AF IN PREVIOUSLY UNTREATED PATIENTS IN USUAL CARE SETTINGS Completed NCT00950170 Phase 4
38 IMMUNINE - Purified Factor IX Concentrate Virus-Inactivated: A Phase 4, Prospective, Open-label Multicenter Study to Prospectively Document the Exposure of IMMUNINE and to Monitor FIX Inhibitors in Previously Treated Patients With Severe (FIX Level < 1%) or Moderately Severe (FIX Level <= 2%) Hemophilia B Who Are Planned to Enter BAX 326 Study 250901 to Investigate a New Recombinant FIX Concentrate Completed NCT01128881 Phase 4
39 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex (Humate-P®) Using Individualized Dosing in Pediatric and Adult Surgical Subjects With Von Willebrand's Disease. Completed NCT00168090 Phase 4 Blood coagulation Factor VIII and vWF, human
40 A Multiclinic, Open Pilot Study to Investigate the Effect of Combination Antiretroviral Therapy Including Indinavir Sulfate on Coagulation Factors, on Platelet Aggregation, and on Factor VIII/IX Half-Life in HIV-1 Seropositive Patients With Hemophilia A or B Completed NCT00002386 Phase 4 Indinavir sulfate;Lamivudine;Stavudine;Zidovudine;Zalcitabine;Didanosine
41 An Open-label, Single-arm, Post-authorization Pragmatic Clinical Trial On The Safety And Efficacy Of Benefix (Nonacog Alfa, Recombinant Factor Ix) In Subjects With Hemophilia B In Usual Care Settings In China Completed NCT02336178 Phase 4 Benefix
42 Evaluation of Efficacy and Safety of Benefix®- Coagulation Factor ix, Recombinant, in Previously Treated Patients With Hemophilia b. Completed NCT00581126 Phase 4 Recombinant Factor IX Coagulation
43 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
44 A Study on PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin) in Iranian Hemophilic Patients With Chronic Hepatitis C Infection Completed NCT00707772 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin);PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
45 Reformulated BeneFIX Efficacy and Safety After Conversion From a pdFIX Completed NCT00749476 Phase 4
46 A Randomized Controlled Trial of the Effect of Cytochrome P450 2C19 Genotype-Specific Dosing Plus TDM vs. TDM Alone on Reaching Therapeutic Voriconazole Blood Levels Completed NCT03731169 Phase 4 Standard of Care
47 An Open Label Study to Evaluate the Safety and Effect on Sustained Virological Response of PEGASYS Plus Ribavirin in Patients With Hemophilia A and Chronic Hepatitis C Completed NCT00475072 Phase 4 peginterferon alfa-2a [Pegasys];ribavirin
48 A Post Approval Commitment Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of KOVALTRY in Chinese Children, Adolescents /Adults With Severe Hemophilia A Recruiting NCT04565236 Phase 4
49 The Effectiveness of Recombinant Fusion Protein Linking Coagulation Factor IX With Recombinant Albumin (rIX-FP) in Severe Hemophilia B Patients Switching From Previous Factor IX Treatment Recruiting NCT04108260 Phase 4 Albutrepenonacog Alfa 1 UNT [IDELVION]
50 Optimizing the Use of Prophylaxis in Patients With Severe Haemophilia A Using PK Measurement (myPKFiT) Recruiting NCT03915080 Phase 4 Oktokog alpha

Search NIH Clinical Center for Hemophilia a

Inferred drug relations via UMLS 70 / NDF-RT 51 :


antihemophilic factor, human
Antihemophilic Factor, Human Recombinant
Antihemophilic factor, porcine
ANTIHEMOPHILIC FACTOR,HUMAN,METHOD M,MONOCLONAL
Factor VIII
nonacog alfa
recombinant FVIIa

Genetic Tests for Hemophilia a

Anatomical Context for Hemophilia a

MalaCards organs/tissues related to Hemophilia a:

40
Liver, Bone, Endothelial, T Cells, Bone Marrow, B Cells, Whole Blood

Publications for Hemophilia a

Articles related to Hemophilia a:

(show top 50) (show all 5541)
# Title Authors PMID Year
1
Inhibitors of factor VIII in black patients with hemophilia. 6 57 25 61
19369668 2009
2
Somatic mosaicism in hemophilia A: a fairly common event. 57 6 25 61
11410838 2001
3
Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. 6 25 61 54
19719828 2009
4
Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction of hemophilia A patients with high-responding inhibitors. 25 6 54 61
19740093 2009
5
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. 61 57 6
18217193 2008
6
Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution. 61 6 57
16786531 2006
7
Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A. 61 6 57
12406074 2002
8
The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion. 6 61 57
12242334 2002
9
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 61 57 6
12351418 2002
10
The identification and classification of 41 novel mutations in the factor VIII gene (F8C). 61 57 6
11857744 2002
11
An Alu insert as the cause of a severe form of hemophilia A. 61 6 57
11713379 2001
12
De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism. 61 6 57
11023529 2000
13
Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. 6 57 61
8644728 1996
14
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. 61 57 6
7662970 1995
15
Molecular etiology of factor VIII deficiency in hemophilia A. 6 57 61
7728145 1995
16
Three missense mutations in Arg codons of the factor VIII genes of mild to moderately severe hemophilia A patients. 57 6 61
1412186 1992
17
A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases. 61 6 57
1523102 1992
18
Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis. 6 57 61
2107542 1990
19
Molecular analysis of hemophilia A mutations in the Finnish population. 61 57 6
2104741 1990
20
Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. 57 61 6
2833855 1988
21
Characterization of five partial deletions of the factor VIII gene. 57 6 61
3035554 1987
22
Hemophilia A. Detection of molecular defects and of carriers by DNA analysis. 61 6 57
2993888 1985
23
Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative. 25 6 61
29296726 2017
24
Molecular mechanisms underlying hemophilia A phenotype in seven females. 25 6 61
19302446 2009
25
Haemophilia A mutations in the UK: results of screening one-third of the population. 57 6
18691168 2008
26
Bleeding in carriers of hemophilia. 61 57 25
16551972 2006
27
Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A. 57 6
15741993 2005
28
Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. 6 57
8281136 1993
29
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. 57 6
8275087 1993
30
Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients. 6 57
8490618 1993
31
Factor VIII gene explains all cases of haemophilia A. 6 57
1357455 1992
32
Factor VIII gene deletions in haemophilia A patients in Czechoslovakia. 6 57
1643024 1992
33
Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene. 6 57
1671991 1991
34
A transcribed gene in an intron of the human factor VIII gene. 6 57
2110545 1990
35
A recurrent missense mutation (Arg----Gln) and a partial deletion in factor VIII gene causing severe haemophilia A. 6 57
2493803 1989
36
Maternal duplication associated with gene deletion in sporadic hemophilia. 57 6
2901224 1988
37
Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. 57 6
2831458 1988
38
A somatic mosaic for haemophilia A detected at the DNA level. 57 6
3131627 1988
39
A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences. 6 57
3122181 1987
40
Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. 6 57
3097553 1986
41
Detection and sequence of mutations in the factor VIII gene of haemophiliacs. 57 6
2987704 1985
42
Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. 57 6
2986011 1985
43
Hemophilia in the female dog. 6 57
15431070 1950
44
Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors. 61 54 6
18600086 2008
45
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype. 54 61 6
18387975 2008
46
Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development. 6 61 54
17445092 2007
47
F8 gene mutation profile and ITT response in a cohort of Italian haemophilia A patients with inhibitors. 6 25
17610549 2007
48
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. 54 6 61
16972227 2007
49
Sequencing of the factor 8(F8) coding regions in 10 Turkish hemophilia A patients reveals three novel pathological mutations, and one rediagnosis of von Willebrand's disease type 2N. 54 61 6
16834740 2006
50
Aminoglycoside suppression of nonsense mutations in severe hemophilia. 54 57 61
16051741 2005

Variations for Hemophilia a

ClinVar genetic disease variations for Hemophilia a:

6 (show top 50) (show all 474)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F8 NM_000132.3(F8):c.2958_2959AG[2] (p.Ser988fs) Microsatellite Pathogenic 10250 rs387906448 GRCh37: X:154159102-154159103
GRCh38: X:154930827-154930828
2 F8 NM_000132.3(F8):c.2945dup (p.Asn982fs) Duplication Pathogenic 10249 rs387906447 GRCh37: X:154159119-154159120
GRCh38: X:154930844-154930845
3 F8 NM_000132.3(F8):c.2383A>T (p.Arg795Ter) SNV Pathogenic 10248 rs2228152 GRCh37: X:154159682-154159682
GRCh38: X:154931407-154931407
4 F8 NM_000132.3(F8):c.2215G>A (p.Glu739Lys) SNV Pathogenic 10247 rs28937285 GRCh37: X:154159850-154159850
GRCh38: X:154931575-154931575
5 F8 NM_000132.3(F8):c.2167G>A (p.Ala723Thr) SNV Pathogenic 10246 rs137852436 GRCh37: X:154159898-154159898
GRCh38: X:154931623-154931623
6 F8 NM_000132.3(F8):c.2149C>T (p.Arg717Trp) SNV Pathogenic 10245 rs137852435 GRCh37: X:154159916-154159916
GRCh38: X:154931641-154931641
7 F8 NM_000132.3(F8):c.2029T>C (p.Phe677Leu) SNV Pathogenic 10244 rs137852434 GRCh37: X:154176057-154176057
GRCh38: X:154947782-154947782
8 F8 F652del Deletion Pathogenic 10243 GRCh37:
GRCh38:
9 F8 NM_000132.3(F8):c.1988C>T (p.Ala663Val) SNV Pathogenic 10242 rs137852433 GRCh37: X:154176098-154176098
GRCh38: X:154947823-154947823
10 F8 NM_000132.3(F8):c.1965C>G (p.Tyr655Ter) SNV Pathogenic 10241 rs137852432 GRCh37: X:154176121-154176121
GRCh38: X:154947846-154947846
11 F8 NM_000132.3(F8):c.1957G>A (p.Val653Met) SNV Pathogenic 10240 rs137852431 GRCh37: X:154176129-154176129
GRCh38: X:154947854-154947854
12 F8 NM_000132.3(F8):c.1958T>C (p.Val653Ala) SNV Pathogenic 10239 rs137852430 GRCh37: X:154176128-154176128
GRCh38: X:154947853-154947853
13 F8 F8, IVS12DS, G-A, +5 SNV Pathogenic 10238 GRCh37:
GRCh38:
14 F8 NM_000132.3(F8):c.1892A>G (p.Asn631Ser) SNV Pathogenic 10237 rs137852429 GRCh37: X:154182178-154182178
GRCh38: X:154953903-154953903
15 F8 NM_000132.3(F8):c.1814A>C (p.Tyr605Ser) SNV Pathogenic 10235 rs137852427 GRCh37: X:154182256-154182256
GRCh38: X:154953981-154953981
16 F8 NM_000132.3(F8):c.1812G>C (p.Trp604Cys) SNV Pathogenic 10234 rs137852426 GRCh37: X:154182258-154182258
GRCh38: X:154953983-154953983
17 F8 NM_000132.3(F8):c.1808G>T (p.Ser603Ile) SNV Pathogenic 10233 rs137852425 GRCh37: X:154182262-154182262
GRCh38: X:154953987-154953987
18 F8 NM_000132.3(F8):c.1804C>T (p.Arg602Ter) SNV Pathogenic 10232 rs137852424 GRCh37: X:154182266-154182266
GRCh38: X:154953991-154953991
19 F8 NM_000132.3(F8):c.1729T>C (p.Ser577Pro) SNV Pathogenic 10231 rs387906446 GRCh37: X:154185255-154185255
GRCh38: X:154956980-154956980
20 F8 NM_000132.3(F8):c.1750C>A (p.Gln584Lys) SNV Pathogenic 10230 rs137852422 GRCh37: X:154185234-154185234
GRCh38: X:154956959-154956959
21 F8 NM_000132.3(F8):c.1730C>T (p.Ser577Phe) SNV Pathogenic 10229 rs28937282 GRCh37: X:154185254-154185254
GRCh38: X:154956979-154956979
22 F8 NM_000132.3(F8):c.1726G>T (p.Glu576Ter) SNV Pathogenic 10228 rs137852421 GRCh37: X:154185258-154185258
GRCh38: X:154956983-154956983
23 F8 NM_000132.3(F8):c.1682A>G (p.Asp561Gly) SNV Pathogenic 10227 rs137852420 GRCh37: X:154185302-154185302
GRCh38: X:154957027-154957027
24 F8 NM_000132.3(F8):c.1660A>G (p.Ser554Gly) SNV Pathogenic 10226 rs137852419 GRCh37: X:154185324-154185324
GRCh38: X:154957049-154957049
25 F8 NM_000132.3(F8):c.1648C>G (p.Arg550Gly) SNV Pathogenic 10224 rs137852417 GRCh37: X:154185336-154185336
GRCh38: X:154957061-154957061
26 F8 NM_000132.3(F8):c.1648C>T (p.Arg550Cys) SNV Pathogenic 10223 rs137852417 GRCh37: X:154185336-154185336
GRCh38: X:154957061-154957061
27 F8 NM_000132.3(F8):c.1636C>T (p.Arg546Trp) SNV Pathogenic 10222 rs137852416 GRCh37: X:154185348-154185348
GRCh38: X:154957073-154957073
28 F8 NM_000132.3(F8):c.1630G>A (p.Asp544Asn) SNV Pathogenic 10221 rs137852415 GRCh37: X:154185354-154185354
GRCh38: X:154957079-154957079
29 F8 NM_000132.3(F8):c.1596dup (p.Thr533fs) Duplication Pathogenic 10220 rs387906445 GRCh37: X:154185387-154185388
GRCh38: X:154957112-154957113
30 F8 F8, IVS10AS, G-T, +1 SNV Pathogenic 10219 GRCh37:
GRCh38:
31 F8 F8, 11-BP DEL, FS Deletion Pathogenic 10218 GRCh37:
GRCh38:
32 F8 NM_000132.3(F8):c.1492G>A (p.Gly498Arg) SNV Pathogenic 10217 rs137852414 GRCh37: X:154189395-154189395
GRCh38: X:154961120-154961120
33 F8 NM_000132.3(F8):c.1481T>C (p.Ile494Thr) SNV Pathogenic 10216 rs137852413 GRCh37: X:154189406-154189406
GRCh38: X:154961131-154961131
34 F8 NM_000132.3(F8):c.1418A>G (p.Tyr473Cys) SNV Pathogenic 10215 rs387906444 GRCh37: X:154194270-154194270
GRCh38: X:154965995-154965995
35 F8 NM_000132.3(F8):c.1417T>C (p.Tyr473His) SNV Pathogenic 10214 rs387906443 GRCh37: X:154194271-154194271
GRCh38: X:154965996-154965996
36 F8 NM_000132.3(F8):c.1348T>A (p.Tyr450Asn) SNV Pathogenic 10213 rs111033616 GRCh37: X:154194340-154194340
GRCh38: X:154966065-154966065
37 F8 NM_000132.3(F8):c.1331A>G (p.Lys444Arg) SNV Pathogenic 10212 rs28937272 GRCh37: X:154194357-154194357
GRCh38: X:154966082-154966082
38 F8 NM_000132.3(F8):c.1293del (p.Asn432fs) Deletion Pathogenic 10211 rs387906442 GRCh37: X:154194395-154194395
GRCh38: X:154966120-154966120
39 F8 NM_000132.3(F8):c.1293G>T (p.Leu431Phe) SNV Pathogenic 10210 rs28933672 GRCh37: X:154194395-154194395
GRCh38: X:154966120-154966120
40 F8 NM_000132.3(F8):c.1226A>G (p.Glu409Gly) SNV Pathogenic 10209 rs28933671 GRCh37: X:154194746-154194746
GRCh38: X:154966471-154966471
41 F8 NM_000132.3(F8):c.1214T>G (p.Ile405Ser) SNV Pathogenic 10208 rs28933670 GRCh37: X:154194758-154194758
GRCh38: X:154966483-154966483
42 F8 NM_000132.3(F8):c.1197_1198del (p.Lys399fs) Deletion Pathogenic 10207 rs387906441 GRCh37: X:154194774-154194775
GRCh38: X:154966499-154966500
43 F8 NM_000132.3(F8):c.1174T>C (p.Ser392Pro) SNV Pathogenic 10206 rs28933669 GRCh37: X:154194798-154194798
GRCh38: X:154966523-154966523
44 F8 NM_000132.3(F8):c.1175C>T (p.Ser392Leu) SNV Pathogenic 10205 rs28933668 GRCh37: X:154194797-154194797
GRCh38: X:154966522-154966522
45 F8 NM_000132.3(F8):c.1175C>A (p.Ser392Ter) SNV Pathogenic 10204 rs28933668 GRCh37: X:154194797-154194797
GRCh38: X:154966522-154966522
46 F8 NM_000132.3(F8):c.1078_1079del (p.Glu360fs) Deletion Pathogenic 10203 rs387906440 GRCh37: X:154194893-154194894
GRCh38: X:154966618-154966619
47 F8 NM_000132.3(F8):c.1043G>C (p.Cys348Ser) SNV Pathogenic 10202 rs137852410 GRCh37: X:154194929-154194929
GRCh38: X:154966654-154966654
48 F8 NM_000132.3(F8):c.986G>A (p.Cys329Tyr) SNV Pathogenic 10201 rs137852409 GRCh37: X:154197629-154197629
GRCh38: X:154969354-154969354
49 F8 NM_000132.3(F8):c.980T>C (p.Leu327Pro) SNV Pathogenic 10199 rs137852407 GRCh37: X:154197635-154197635
GRCh38: X:154969360-154969360
50 F8 NM_000132.3(F8):c.943del (p.Ala315fs) Deletion Pathogenic 10198 rs387906439 GRCh37: X:154197672-154197672
GRCh38: X:154969397-154969397

UniProtKB/Swiss-Prot genetic disease variations for Hemophilia a:

72 (show top 50) (show all 472)
# Symbol AA change Variation ID SNP ID
1 F8 p.Leu26Arg VAR_001045 rs137852377
2 F8 p.Glu30Val VAR_001046 rs137852378
3 F8 p.Gly41Cys VAR_001047 rs137852379
4 F8 p.Arg48Cys VAR_001048
5 F8 p.Gly89Asp VAR_001050 rs137852380
6 F8 p.Gly89Val VAR_001051
7 F8 p.Val99Asp VAR_001052 rs137852382
8 F8 p.Val104Asp VAR_001053 rs137852383
9 F8 p.Lys108Thr VAR_001054 rs137852384
10 F8 p.Met110Val VAR_001055 rs137852385
11 F8 p.Leu117Arg VAR_001056 rs137852386
12 F8 p.Glu129Val VAR_001057
13 F8 p.Gly130Arg VAR_001058 rs137852387
14 F8 p.Glu132Asp VAR_001059 rs137852388
15 F8 p.Tyr133Cys VAR_001060 rs137852389
16 F8 p.Asp135Gly VAR_001061 rs137852390
17 F8 p.Thr137Ile VAR_001062 rs137852391
18 F8 p.Gly164Val VAR_001063 rs137852392
19 F8 p.Pro165Ser VAR_001064 rs137852393
20 F8 p.Val181Met VAR_001065 rs137852394
21 F8 p.Lys185Thr VAR_001066 rs137852395
22 F8 p.Ser189Leu VAR_001067 rs137852367
23 F8 p.Asp222Val VAR_001068 rs137852396
24 F8 p.Gly224Trp VAR_001069 rs137852397
25 F8 p.Val253Phe VAR_001070
26 F8 p.Gly266Glu VAR_001071 rs137852398
27 F8 p.Gly278Arg VAR_001072 rs137852399
28 F8 p.Val285Gly VAR_001073 rs137852400
29 F8 p.Glu291Gly VAR_001074 rs137852359
30 F8 p.Thr294Ile VAR_001075 rs137852401
31 F8 p.Asn299Ile VAR_001076 rs137852402
32 F8 p.Arg301His VAR_001077 rs137852403
33 F8 p.Arg301Leu VAR_001078 rs137852403
34 F8 p.Ser308Leu VAR_001079 rs137852404
35 F8 p.Phe312Ser VAR_001080 rs137852405
36 F8 p.Thr314Ala VAR_001081 rs137852406
37 F8 p.Thr314Ile VAR_001082
38 F8 p.Leu327Pro VAR_001083 rs137852407
39 F8 p.Ile331Val VAR_001084
40 F8 p.Val345Leu VAR_001085 rs137852371
41 F8 p.Cys348Arg VAR_001086 rs137852370
42 F8 p.Cys348Ser VAR_001087 rs137852410
43 F8 p.Cys348Tyr VAR_001088
44 F8 p.Arg391Cys VAR_001089 rs137852364
45 F8 p.Arg391His VAR_001090 rs28935499
46 F8 p.Arg391Pro VAR_001091
47 F8 p.Ser392Leu VAR_001092 rs28933668
48 F8 p.Ser392Pro VAR_001093 rs28933669
49 F8 p.Ile405Ser VAR_001094 rs28933670
50 F8 p.Glu409Gly VAR_001095 rs28933671

Copy number variations for Hemophilia a from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 260219 X 146900000 154913754 Deletion F8 Hemophilia A
2 260222 X 146900000 154913754 Deletion MPP1 Hemophilia A
3 260242 X 146900000 154913754 Inversion F8 Hemophilia A

Expression for Hemophilia a

Search GEO for disease gene expression data for Hemophilia a.

Pathways for Hemophilia a

GO Terms for Hemophilia a

Cellular components related to Hemophilia a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.85 VWF F9 F8 F7 F5 F3
2 collagen-containing extracellular matrix GO:0062023 9.62 VWF F9 F7 F3
3 endoplasmic reticulum lumen GO:0005788 9.46 F9 F8 F7 F5
4 COPII-coated ER to Golgi transport vesicle GO:0030134 9.4 F8 F5
5 platelet alpha granule GO:0031091 9.26 VWF F5
6 platelet alpha granule lumen GO:0031093 9.13 VWF F8 F5
7 serine-type peptidase complex GO:1905286 8.62 F7 F3

Biological processes related to Hemophilia a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.67 F9 F8 F7 F5
2 platelet degranulation GO:0002576 9.61 F5 F8 VWF
3 blood coagulation GO:0007596 9.43 VWF F9 F8 F7 F5 F3
4 positive regulation of positive chemotaxis GO:0050927 9.4 F3 F7
5 blood coagulation, intrinsic pathway GO:0007597 9.33 VWF F9 F8
6 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.32 F7 F3
7 blood coagulation, extrinsic pathway GO:0007598 9.26 F7 F3
8 hemostasis GO:0007599 9.1 VWF F9 F8 F7 F5 F3

Molecular functions related to Hemophilia a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.8 F9 F7 F3

Sources for Hemophilia a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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