HEMA
MCID: HMP029
MIFTS: 69

Hemophilia a (HEMA)

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

Aliases & Classifications for Hemophilia a

MalaCards integrated aliases for Hemophilia a:

Name: Hemophilia a 57 75 24 53 59 74 13 55 40 72
Factor Viii Deficiency 24 53 59 74 72
Hemophilia, Classic 57 53
Factor 8 Deficiency 53 74
Classic Hemophilia 53 74
Hema 57 74
Symptomatic Form of Hemophilia a in Female Carriers 59
Moderately Severe Factor Viii Deficiency 59
Moderately Severe Hemophilia a 59
Severe Factor Viii Deficiency 59
Mild Factor Viii Deficiency 59
Hemophilia a, Congenital 53
Classical Hemophilia 53
Severe Hemophilia a 59
Hemophilia a, Mild 6
Mild Hemophilia a 59
Haemophilia a 53
Hem a 53

Characteristics:

Orphanet epidemiological data:

59
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
Miscellaneous:
persistent bleeding after trauma
partial factor viii deficiency in heterozygous carriers

Inheritance:
x-linked recessive


HPO:

32
hemophilia a:
Inheritance x-linked recessive inheritance


GeneReviews:

24
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:



External Ids:

OMIM 57 306700
MeSH 44 D006467
MESH via Orphanet 45 D006467
ICD10 via Orphanet 34 D66
UMLS via Orphanet 73 C0019069 C0272322 C0272324 more
UMLS 72 C0019069 C3494187

Summaries for Hemophilia a

NIH Rare Diseases : 53 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 factor viii deficiency and acquired hemophilia a. 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 Tranexamic Acid and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and bone, and related phenotypes are joint swelling and arthralgia

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)

UniProtKB/Swiss-Prot : 74 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 : 75 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 605)
# Related Disease Score Top Affiliating Genes
1 factor viii deficiency 32.6 VWF F8 F5 F11
2 acquired hemophilia a 32.6 F9 F8 F5 F3 F11
3 hemophilia 32.3 VWF F9 F8 F7 F3
4 von willebrand disease, type 1 32.1 VWF F8 F3
5 von willebrand disease, type 3 31.4 VWF F8 F3 F11
6 von willebrand disease, type 2 31.4 VWF F8 F7 F3
7 factor v and factor viii, combined deficiency of, 2 30.8 F8 F5
8 purpura 30.4 VWF F3
9 arthropathy 30.4 F9 F8
10 cardiac tamponade 30.3 F9 F8
11 hemophilia b 30.0 F9 F8 F7 F3 F11 F10
12 afibrinogenemia, congenital 29.9 VWF F3
13 thrombotic thrombocytopenic purpura 29.9 VWF F3
14 varicose veins 29.8 VWF F5
15 intermediate coronary syndrome 29.8 VWF F3
16 thrombophlebitis 29.7 F8 F5
17 arteries, anomalies of 29.6 VWF F3
18 portal vein thrombosis 29.6 F7 F5
19 peripheral vascular disease 29.5 VWF F3
20 intracranial hypertension 29.4 F5 F3
21 factor xii deficiency 29.4 F9 F5 F3
22 hemolytic-uremic syndrome 29.4 VWF F3
23 carotid artery thrombosis 29.4 F3 F10
24 factor xi deficiency 29.3 F9 F3 F11
25 vascular disease 29.3 VWF F5 F3
26 acquired von willebrand syndrome 29.0 VWF F9 F8 F11
27 disseminated intravascular coagulation 28.9 F9 F7 F5 F3
28 cerebrovascular disease 28.9 VWF F7 F5
29 hemarthrosis 28.8 VWF F9 F8 F7 F10
30 von willebrand's disease 28.8 VWF F9 F8 F5 F3 F11
31 heart disease 28.7 VWF F8 F7 F3
32 acquired hemophilia 28.7 F9 F8 F5 F3 F11 F10
33 intracranial thrombosis 28.6 VWF F8 F5 F3
34 stroke, ischemic 28.3 VWF F7 F5 F3
35 blood platelet disease 28.3 VWF F8 F3 F10
36 factor vii deficiency 28.3 F9 F8 F7 F3 F10
37 thrombophilia due to thrombin defect 28.2 VWF F8 F5 F3 F10
38 thrombophilia 27.8 VWF F9 F8 F5 F3 F11
39 blood coagulation disease 27.7 VWF F9 F8 F7 F5 F3
40 pulmonary embolism 27.7 VWF F9 F5 F3 F10
41 thrombophilia due to activated protein c resistance 27.0 VWF F9 F8 F5 F3 F10
42 thrombosis 26.9 VWF F9 F8 F7 F5 F3
43 afibrinogenemia 26.7 VWF F8 F5 F3 F11 F10
44 myocardial infarction 26.4 VWF F8 F7 F5 F3 F11
45 hemorrhagic disease 26.3 VWF F9 F8 F7 F5 F3
46 factor x deficiency 26.0 VWF F9 F7 F5 F3 F11
47 factor v deficiency 25.5 VWF F9 F8 F7 F5 F3
48 multiple sclerosis-ichthyosis-factor viii deficiency syndrome 12.4
49 hemophilia a with vascular abnormality 12.4
50 immunodeficiency 32a 11.5

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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001386
2 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
3 bleeding with minor or no trauma 59 32 hallmark (90%) Very frequent (99-80%) HP:0011889
4 reduced factor viii activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0003125
5 thromboembolism 59 32 frequent (33%) Frequent (79-30%) HP:0001907
6 spontaneous hematomas 59 32 frequent (33%) Frequent (79-30%) HP:0007420
7 oral cavity bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0030140
8 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
9 abnormality of the elbow 59 32 occasional (7.5%) Occasional (29-5%) HP:0009811
10 joint hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0005261
11 intramuscular hematoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012233
12 intraventricular hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0030746
13 splenic rupture 59 32 very rare (1%) Very rare (<4-1%) HP:0012223
14 osteoarthritis 32 HP:0002758
15 bruising susceptibility 32 HP:0000978
16 intracranial hemorrhage 59 Very rare (<4-1%)
17 prolonged partial thromboplastin time 32 HP:0003645
18 persistent bleeding after trauma 32 HP:0001934

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
degenerative joint disease
hemarthroses

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

Laboratory Abnormalities:
factor viii deficiency
platelet count normal
ptt prolonged
pt normal
bleeding time normal
more

Clinical features from OMIM:

306700

MGI Mouse Phenotypes related to Hemophilia a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 F10 F11 F3 F5 F7 F9
2 homeostasis/metabolism MP:0005376 9.56 F10 F11 F3 F5 F7 F8
3 mortality/aging MP:0010768 9.23 F10 F11 F3 F5 F7 F8

Drugs & Therapeutics for Hemophilia a

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

(show top 50) (show all 211)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4 1197-18-8 5526
2
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
3
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
4
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
5
Zidovudine Approved Phase 4 30516-87-1 35370
6
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
7
Ribavirin Approved Phase 4 36791-04-5 37542
8
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
9
Didanosine Approved Phase 4 69655-05-6 50599
10
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
11
Indinavir Approved Phase 4 150378-17-9 5362440
12
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
13
tannic acid Approved Phase 4 1401-55-4
14
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
15
rituximab Approved Phase 4 174722-31-7 10201696
16
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
17
Ferrous fumarate Approved Phase 4 141-01-5
18
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
19
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 54670067 5785
20 Hemostatics Phase 4
21 Antifibrinolytic Agents Phase 4
22 Pharmaceutical Solutions Phase 4
23 triamcinolone acetonide Phase 4
24 Triamcinolone hexacetonide Phase 4
25 Triamcinolone diacetate Phase 4
26 Adjuvants, Immunologic Phase 4
27 Hylan Phase 4
28 Viscosupplements Phase 4
29 Reverse Transcriptase Inhibitors Phase 4
30 Anti-HIV Agents Phase 4
31 Nucleic Acid Synthesis Inhibitors Phase 4
32 Antimetabolites Phase 4
33 Anti-Retroviral Agents Phase 4
34 Interferon-alpha Phase 4
35 interferons Phase 4
36 Vasoconstrictor Agents Phase 4
37 Natriuretic Agents Phase 4
38 Deamino Arginine Vasopressin Phase 4
39 arginine Phase 4
40 Vasopressins Phase 4
41 Arginine Vasopressin Phase 4
42 Antineoplastic Agents, Immunological Phase 4
43 Antirheumatic Agents Phase 4
44 Hormones Phase 4
45 glucocorticoids Phase 4
46 Anti-Inflammatory Agents Phase 4
47 Antineoplastic Agents, Hormonal Phase 4
48 Hormone Antagonists Phase 4
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
50 Trace Elements Phase 4

Interventional clinical trials:

(show top 50) (show all 578)
# Name Status NCT ID Phase Drugs
1 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)]
2 Hematology Oncology Center Unknown status NCT02999308 Phase 4
3 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
4 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)
5 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
6 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
7 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)
8 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
9 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
10 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
11 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)
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 STUDY OF THE SAFETY AND EFFICACY OF REFACTO AF IN PREVIOUSLY UNTREATED PATIENTS IN USUAL CARE SETTINGS Completed NCT00950170 Phase 4
14 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
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 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
18 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
19 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
20 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
21 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
22 Study to Evaluate Efficacy and Safety of ADVATE in the Treatment of Previously Treated Patients With Hemophilia A Completed NCT02170402 Phase 4
23 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
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 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)
26 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
27 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
28 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
29 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
30 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
31 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
32 Reformulated BeneFIX Efficacy and Safety After Conversion From a pdFIX Completed NCT00749476 Phase 4
33 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
34 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
35 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
36 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
37 1-deamino 8-d-arginine Vasopressin in Percutaneous Ultrasound-guided Renal Biopsy: a Randomized Controlled Trial Completed NCT00748072 Phase 4 DDAVP;saline solution
38 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)
39 The Assessment of the Minimal Effective and Tolerated Dose of Tranexamic Acid in Women With Menorrhagia Who Have Bleeding Disorders Completed NCT00904709 Phase 4 tranexamic acid
40 DDAVP vs Exercise in Patients With Mild Hemophilia A - Which is Better and do They Work Synergistically in Improving Hemostasis? Recruiting NCT03136003 Phase 4 DDAVP
41 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 Recruiting NCT03093480 Phase 4
42 Exercise Versus DDAVP in Patients With Mild Hemophilia A - is One Non-inferior to the Other and do They Work Additively in Improving Hemostasis? Recruiting NCT03379974 Phase 4 DDAVP Inhalant Product
43 Optimizing the Use of Prophylaxis in Patients With Severe Haemophilia A Using PK Measurement (myPKFiT) Recruiting NCT03915080 Phase 4 Advate
44 IMMUNE TOLERANCE INDUCTION, BY FACTOR VIII CONCENTRATE CONTAINING VON WILLEBRAND FACTOR, IN SEVERE OR MODERATE HAEMOPHILIA A PATIENTS WITH INHIBITORS Recruiting NCT02479087 Phase 4 Plasma-derived FVIII/VWF concentrate
45 A Phase IV, Multicenter, Single-Arm, Open-Label Study of Emicizumab Prophylaxis in Patients With Hemophilia A With or Without Inhibitors Undergoing Minor Surgical Procedures Recruiting NCT03361137 Phase 4 Emicizumab
46 Capital Characteristic Application: Pharmacokinetic(PK) Research on Chinese Children of Hemophilia Recruiting NCT03622476 Phase 4 concentrated FVIII
47 Beijing Children's Hospital, Capital Medical University Recruiting NCT03598725 Phase 4 Coagulation Factor VIII;Prednisone;Rituximab
48 Amino Acid Chelated Iron Versus Ferrous Fumarate in the Treatment of Iron Deficiency Anemia With Pregnancy: Randomized Controlled Trial Recruiting NCT03830034 Phase 4 Amino Acid chelated iron tab 15 mg;Ferrous Fumarate tab 350 mg( 115 mg elemental iron)
49 INdividualized ITI Based on Fviii(ATE) Protection by VWF (INITIATE) Recruiting NCT03204539 Phase 4 Wilate
50 Phase IV A Study of Immunologic Safety for Alphanate in Previously Treated Patients Diagnosed With Severe Hemophilia A Active, not recruiting NCT00323856 Phase 4 Alphanate SD/HT

Search NIH Clinical Center for Hemophilia a

Inferred drug relations via UMLS 72 / NDF-RT 51 :


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

Genetic Tests for Hemophilia a

Anatomical Context for Hemophilia a

MalaCards organs/tissues related to Hemophilia a:

41
Testes, Liver, Bone, T Cells, Brain, B Cells, Endothelial

Publications for Hemophilia a

Articles related to Hemophilia a:

(show top 50) (show all 4959)
# Title Authors PMID Year
1
Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A. 38 8 71
12406074 2002
2
The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion. 38 8 71
12242334 2002
3
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 38 8 71
12351418 2002
4
An Alu insert as the cause of a severe form of hemophilia A. 38 8 71
11713379 2001
5
De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism. 38 8 71
11023529 2000
6
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. 38 8 71
7662970 1995
7
Molecular etiology of factor VIII deficiency in hemophilia A. 38 8 71
7728145 1995
8
Three missense mutations in Arg codons of the factor VIII genes of mild to moderately severe hemophilia A patients. 38 8 71
1412186 1992
9
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. 38 8 71
1523102 1992
10
Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis. 38 8 71
2107542 1990
11
Molecular analysis of hemophilia A mutations in the Finnish population. 38 8 71
2104741 1990
12
Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. 38 8 71
2833855 1988
13
Characterization of five partial deletions of the factor VIII gene. 38 8 71
3035554 1987
14
Factor VIII gene (F8) mutation and risk of inhibitor development in nonsevere hemophilia A. 38 4 71
23926300 2013
15
Inhibitors of factor VIII in black patients with hemophilia. 38 4 8
19369668 2009
16
Bleeding in carriers of hemophilia. 38 4 8
16551972 2006
17
Somatic mosaicism in hemophilia A: a fairly common event. 38 4 8
11410838 2001
18
Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. 8 71
8281136 1993
19
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. 8 71
8275087 1993
20
Factor VIII gene explains all cases of haemophilia A. 8 71
1357455 1992
21
Factor VIII gene deletions in haemophilia A patients in Czechoslovakia. 8 71
1643024 1992
22
Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene. 8 71
1671991 1991
23
A transcribed gene in an intron of the human factor VIII gene. 8 71
2110545 1990
24
A recurrent missense mutation (Arg----Gln) and a partial deletion in factor VIII gene causing severe haemophilia A. 8 71
2493803 1989
25
Maternal duplication associated with gene deletion in sporadic hemophilia. 8 71
2901224 1988
26
Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. 8 71
2831458 1988
27
A somatic mosaic for haemophilia A detected at the DNA level. 8 71
3131627 1988
28
A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences. 8 71
3122181 1987
29
Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. 8 71
3097553 1986
30
Detection and sequence of mutations in the factor VIII gene of haemophiliacs. 8 71
2987704 1985
31
Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. 8 71
2986011 1985
32
Hemophilia in the female dog. 8 71
15431070 1950
33
Aminoglycoside suppression of nonsense mutations in severe hemophilia. 9 38 8
16051741 2005
34
Long-term expression of human coagulation factor VIII and correction of hemophilia A after in vivo retroviral gene transfer in factor VIII-deficient mice. 9 38 8
10468616 1999
35
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization. 38 71
29357978 2018
36
AAV5-Factor VIII Gene Transfer in Severe Hemophilia A. 38 8
29224506 2017
37
Factor VIII A3 domain substitution N1922S results in hemophilia A due to domain-specific misfolding and hyposecretion of functional protein. 38 71
21217077 2011
38
Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction of hemophilia A patients with high-responding inhibitors. 9 38 4
19740093 2009
39
Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. 9 38 4
19719828 2009
40
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. 38 8
18217193 2008
41
Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution. 38 8
16786531 2006
42
Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A. 38 71
12884004 2003
43
Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing. 38 8
12847523 2003
44
Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A. 9 38 4
12857556 2003
45
The identification and classification of 41 novel mutations in the factor VIII gene (F8C). 38 8
11857744 2002
46
The prevalence of proteolytic antibodies against factor VIII in hemophilia A. 38 8
11870243 2002
47
Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. 9 38 4
11756167 2002
48
Nonviral transfer of the gene encoding coagulation factor VIII in patients with severe hemophilia A. 38 8
11396439 2001
49
Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female. 38 71
11110718 2000
50
Hemophilia A 38 71
20301578 2000

Variations for Hemophilia a

ClinVar genetic disease variations for Hemophilia a:

6 (show top 50) (show all 279)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 F8 NM_000132.3(F8): c.2113+461_2113+473del deletion Pathogenic X:154175500-154175512 X:154947225-154947237
2 F8 NM_000132.3(F8): c.6976C> T (p.Arg2326Ter) single nucleotide variant Pathogenic rs137852354 X:154065952-154065952 X:154837677-154837677
3 F8 NM_000132.3(F8): c.6682C> T (p.Arg2228Ter) single nucleotide variant Pathogenic rs137852355 X:154090034-154090034 X:154861759-154861759
4 F8 F8, EX26DEL deletion Pathogenic
5 F8 NM_000132.3(F8): c.6403C> T (p.Arg2135Ter) single nucleotide variant Pathogenic rs137852356 X:154124378-154124378 X:154896103-154896103
6 F8 F8, EX6DEL deletion Pathogenic
7 F8 F8, EX14DEL deletion Pathogenic
8 F8 F8, EX24-25DEL deletion Pathogenic
9 F8 F8, EX23-25DEL deletion Pathogenic
10 F8 F8, EX22DEL deletion Pathogenic
11 F8 F8, EX26DEL deletion Pathogenic
12 F8 F8, EX1DEL deletion Pathogenic
13 F8 NM_000132.3(F8): c.6496C> T (p.Arg2166Ter) single nucleotide variant Pathogenic rs137852357 X:154091436-154091436 X:154863161-154863161
14 F8 NM_000132.3(F8): c.601+1632G> A single nucleotide variant Pathogenic rs387906429 X:154219579-154219579 X:154991304-154991304
15 F8 NM_000132.3(F8): c.6683G> A (p.Arg2228Gln) single nucleotide variant Pathogenic rs137852358 X:154090033-154090033 X:154861758-154861758
16 F8 NM_000132.3(F8): c.872A> G (p.Glu291Gly) single nucleotide variant Pathogenic rs137852359 X:154197743-154197743 X:154969468-154969468
17 F8 F8, EX2-3DEL deletion Pathogenic
18 F8 F8, EX3-13DEL deletion Pathogenic
19 F8 F8, EX4-25DEL deletion Pathogenic
20 F8 F8, EX7-14DEL deletion Pathogenic
21 F8 F8, EX26DEL deletion Pathogenic
22 F8 F8, LINE INS, EX14 insertion Pathogenic
23 F8 F8, EX15DEL deletion Pathogenic
24 F8 F8, 2-BP DEL, EX8 deletion Pathogenic
25 F8 NM_000132.3(F8): c.6977G> T (p.Arg2326Leu) single nucleotide variant Pathogenic rs137852360 X:154065951-154065951 X:154837676-154837676
26 F8 NM_000132.3(F8): c.5879G> A (p.Arg1960Gln) single nucleotide variant Pathogenic rs28937294 X:154132300-154132300 X:154904025-154904025
27 F8 NM_000132.3(F8): c.5113C> T (p.Gln1705Ter) single nucleotide variant Pathogenic rs137852361 X:154156952-154156952 X:154928677-154928677
28 F8 F8, EX14DEL deletion Pathogenic
29 F8 NM_000132.3(F8): c.5122C> T (p.Arg1708Cys) single nucleotide variant Pathogenic rs111033613 X:154156943-154156943 X:154928668-154928668
30 F8 NM_000132.3(F8): c.5096A> T (p.Tyr1699Phe) single nucleotide variant Pathogenic rs28935203 X:154156969-154156969 X:154928694-154928694
31 F8 NM_000132.3(F8): c.5183A> G (p.Tyr1728Cys) single nucleotide variant Pathogenic rs137852362 X:154156882-154156882 X:154928607-154928607
32 F8 F8, EX11-18DEL deletion Pathogenic
33 F8 NM_000132.3(F8): c.5878C> T (p.Arg1960Ter) single nucleotide variant Pathogenic rs137852363 X:154132301-154132301 X:154904026-154904026
34 F8 F8, EX3DEL deletion Pathogenic
35 F8 F8, EX1-5DEL deletion Pathogenic
36 F8 F8, EX1-22DEL deletion Pathogenic
37 F8 F8, EX26DEL deletion Pathogenic
38 F8 F8, EX1-26DEL deletion Pathogenic
39 F8 NM_000132.3(F8): c.1171C> T (p.Arg391Cys) single nucleotide variant Pathogenic rs137852364 X:154194801-154194801 X:154966526-154966526
40 F8 NM_000132.3(F8): c.6977G> A (p.Arg2326Gln) single nucleotide variant Pathogenic rs137852360 X:154065951-154065951 X:154837676-154837676
41 F8 NM_000132.3(F8): c.6554T> C (p.Leu2185Ser) single nucleotide variant Pathogenic rs137852365 X:154091378-154091378 X:154863103-154863103
42 F8 NM_000132.3(F8): c.6404G> C (p.Arg2135Pro) single nucleotide variant Pathogenic rs137852366 X:154124377-154124377 X:154896102-154896102
43 F8 NM_000132.3(F8): c.566C> T (p.Ser189Leu) single nucleotide variant Pathogenic rs137852367 X:154221246-154221246 X:154992971-154992971
44 F8 F8, EX15-18DEL deletion Pathogenic
45 F8 NM_000132.3(F8): c.2114-?_5219+?del (p.?) deletion Pathogenic X:154134848-154175973 X:154906573-154947698
46 F8 F8, EX23-25DEL deletion Pathogenic
47 F8 F8, EX14DEL deletion Pathogenic
48 F8 F8, EX7-9DEL deletion Pathogenic
49 F8 F8, EX5DEL deletion Pathogenic
50 F8 F8, EX5DEL deletion Pathogenic

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

74 (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 Chromosom 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

Pathways related to Hemophilia a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 VWF F9 F8 F7 F5 F3
2
Show member pathways
12.43 F9 F8 F7 F5 F3 F11
3
Show member pathways
11.76 VWF F9 F8 F7 F5 F3
4
Show member pathways
11.58 F9 F7 F10
5 11.37 VWF F9 F8 F7 F5 F3
6 10.67 F9 F7 F10

GO Terms for Hemophilia a

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 F9 F8 F7 F5 F3 F11
2 Golgi lumen GO:0005796 9.58 F9 F7 F10
3 platelet alpha granule lumen GO:0031093 9.54 VWF F8 F5
4 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.49 F8 F5
5 COPII-coated ER to Golgi transport vesicle GO:0030134 9.48 F8 F5
6 platelet alpha granule GO:0031091 9.43 VWF F5
7 endoplasmic reticulum lumen GO:0005788 9.35 F9 F8 F7 F5 F10
8 intrinsic component of external side of plasma membrane GO:0031233 9.32 F3 F10
9 serine-type peptidase complex GO:1905286 9.26 F7 F3
10 extracellular region GO:0005576 9.23 VWF F9 F8 F7 F5 F3
11 plasma membrane GO:0005886 10 F9 F8 F7 F5 F3 F11

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.8 F9 F7 F11 F10
2 ER to Golgi vesicle-mediated transport GO:0006888 9.72 F9 F8 F7 F5 F10
3 positive regulation of cell migration GO:0030335 9.65 F7 F3 F10
4 positive regulation of protein kinase B signaling GO:0051897 9.63 F7 F3 F10
5 platelet degranulation GO:0002576 9.61 VWF F8 F5
6 hemostasis GO:0007599 9.56 VWF F9 F8 F7 F5 F3
7 COPII vesicle coating GO:0048208 9.52 F8 F5
8 protein processing GO:0016485 9.51 F7 F3
9 blood coagulation, intrinsic pathway GO:0007597 9.46 VWF F9 F8 F11
10 blood coagulation, extrinsic pathway GO:0007598 9.43 F7 F3 F10
11 positive regulation of positive chemotaxis GO:0050927 9.4 F7 F3
12 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.37 F7 F3
13 blood coagulation GO:0007596 9.23 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 peptidase activity GO:0008233 9.46 F9 F7 F11 F10
2 copper ion binding GO:0005507 9.26 F8 F5
3 serine-type peptidase activity GO:0008236 9.26 F9 F7 F11 F10
4 serine-type endopeptidase activity GO:0004252 9.02 F9 F7 F3 F11 F10

Sources for Hemophilia a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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