MCID: HMP029
MIFTS: 69

Hemophilia a

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Hemophilia a

MalaCards integrated aliases for Hemophilia a:

Name: Hemophilia a 53 72 23 49 55 71 13 51 69
Factor Viii Deficiency 23 49 55 71 69
Hemophilia, Classic 53 49
Factor 8 Deficiency 49 71
Classic Hemophilia 49 71
Hema 53 71
Hemophilia a, Congenital 49
Classical Hemophilia 49
Haemophilia a 49
Hem a 49

Characteristics:

Orphanet epidemiological data:

55
hemophilia a
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (France),1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

53
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:

23
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 53 306700
Orphanet 55 ORPHA98878
MESH via Orphanet 42 D006467
UMLS via Orphanet 70 C0019069 C3494187
ICD10 via Orphanet 33 D66
MeSH 41 D006467
UMLS 69 C3494187

Summaries for Hemophilia a

OMIM : 53 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)

MalaCards based summary : Hemophilia a, also known as factor viii deficiency, is related to mild hemophilia a and severe hemophilia a, and has symptoms including arthralgia, joint swelling and thromboembolism. 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 Thrombin and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and brain, and related phenotypes are cardiovascular system and homeostasis/metabolism

NIH Rare Diseases : 49 Hemophilia A is a bleeding disorder in which the blood does not clot normally. People with this disorder have prolonged bleeding or oozing after an injury, surgery, or tooth extraction. In severe cases, heavy bleeding occurs after minor injury or even when there is no injury (spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. In milder forms there is no spontaneous bleeding, and the disorder may not become apparent until after a surgery or serious injury. Hemophilia A is inherited in an X-linked recessive manner and is caused by changes (mutations) in the F8 gene. The main treatment is called replacement therapy, during which clotting factor VIII is dripped or injected into a vein. Last updated: 3/18/2015

UniProtKB/Swiss-Prot : 71 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 : 72 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
Severe Hemophilia a Severe Hemophilia B

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

(show top 50) (show all 216)
# Related Disease Score Top Affiliating Genes
1 mild hemophilia a 33.1 F10 F8 VWF
2 severe hemophilia a 32.8 F3 F5 F8
3 acquired hemophilia a 32.7 F3 F5 F8 F9
4 factor viii deficiency 32.4 F5 F8 VWF
5 hemophilia 31.6 F3 F7 F8 F9 VWF
6 von willebrand disease, type 3 31.5 F8 VWF
7 von willebrand disease, type 1 31.0 F3 F8 VWF
8 von willebrand disease, type 2 30.8 F7 F8 VWF
9 hemophilia b 30.7 F10 F3 F7 F8 F9
10 cardiac tamponade 29.9 F8 F9
11 severe hemophilia b 29.7 F8 F9
12 acquired hemophilia 29.4 F10 F3 F5 F8 F9
13 arthropathy 29.2 F8 F9
14 portal vein thrombosis 28.8 F5 F7
15 von willebrand's disease 28.8 F3 F5 F8 F9 VWF
16 factor xii deficiency 28.7 F3 F5 F9
17 factor vii deficiency 28.6 F10 F3 F7 F8 F9
18 hemarthrosis 28.3 F10 F7 F8 F9 VWF
19 pulmonary embolism 28.2 F10 F3 F5 F9
20 thrombosis 28.0 F10 F3 F5 F9 VWF
21 stroke, ischemic 27.9 F3 F5 F7 VWF
22 thrombophilia due to thrombin defect 27.8 F10 F3 F5 F8 VWF
23 myocardial infarction 27.1 F10 F3 F5 F7 F8 VWF
24 factor x deficiency 26.9 F10 F3 F5 F7 F9 VWF
25 thrombophilia 26.7 F10 F3 F5 F7 F8 F9
26 hemorrhagic disease 26.5 F10 F3 F5 F7 F8 F9
27 moderately severe hemophilia a 12.2
28 hemophilia a with vascular abnormality 12.1
29 symptomatic form of hemophilia a in female carriers 12.0
30 fournier gangrene 10.3 F3 F8
31 alcohol-related birth defect 10.3 F3 F8
32 fainting 10.3 F8 VWF
33 multicentric castleman disease 10.2 F3 F8
34 cerebral arteritis 10.2 F8 VWF
35 heparin-induced thrombocytopenia 10.2 F10 F3
36 lymphangiosarcoma 10.2 F8 VWF
37 leech infestation 10.2 F10 F3
38 qualitative platelet defect 10.2 F3 VWF
39 angina pectoris 10.2 F3 VWF
40 carotid artery thrombosis 10.2 F10 F3
41 x-linked disease 10.2 F8 F9
42 korean hemorrhagic fever 10.1 F3 VWF
43 coronary thrombosis 10.1 F3 VWF
44 anterior cranial fossa meningioma 10.1 F3 F7
45 malignant skin fibrous histiocytoma 10.1 F7 F9
46 malignant dermis tumor 10.0 F7 F9
47 thrombotic thrombocytopenic purpura 10.0 F3 VWF
48 factor v and factor viii, combined deficiency of, 2 10.0 F5 F8
49 factor xi deficiency 10.0 F3 F8 F9
50 retinal artery occlusion 10.0 F5 F8

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



Diseases related to Hemophilia a

Symptoms & Phenotypes for Hemophilia a

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Hemophilia a:

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
2 joint swelling 55 31 hallmark (90%) Very frequent (99-80%) HP:0001386
3 thromboembolism 55 31 frequent (33%) Frequent (79-30%) HP:0001907
4 spontaneous hematomas 55 31 frequent (33%) Frequent (79-30%) HP:0007420
5 gastrointestinal hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002239
6 abnormality of the elbow 55 31 occasional (7.5%) Occasional (29-5%) HP:0009811
7 joint hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0005261
8 splenic rupture 55 31 very rare (1%) Very rare (<4-1%) HP:0012223
9 intramuscular hematoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0012233
10 reduced factor viii activity 55 31 hallmark (90%) Very frequent (99-80%) HP:0003125
11 bleeding with minor or no trauma 55 31 hallmark (90%) Very frequent (99-80%) HP:0011889
12 oral cavity bleeding 55 31 frequent (33%) Frequent (79-30%) HP:0030140
13 intraventricular hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0030746
14 osteoarthritis 31 HP:0002758
15 bruising susceptibility 31 HP:0000978
16 intracranial hemorrhage 55 Very rare (<4-1%)
17 prolonged partial thromboplastin time 31 HP:0003645
18 persistent bleeding after trauma 31 HP:0001934

MGI Mouse Phenotypes related to Hemophilia a:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 F10 F3 F5 F7 F9 VWF
2 homeostasis/metabolism MP:0005376 9.5 F10 F3 F5 F7 F8 F9
3 mortality/aging MP:0010768 9.17 F10 F3 F5 F7 F8 F9

Drugs & Therapeutics for Hemophilia a

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

(show top 50) (show all 206)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational Phase 4,Phase 2,Phase 3
2
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
3
Tranexamic Acid Approved Phase 4 1197-18-8 5526
4
Didanosine Approved Phase 4 69655-05-6 50599
5
Indinavir Approved Phase 4 150378-17-9 5362440
6
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
7
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
8
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
9
Zidovudine Approved Phase 4,Phase 3,Phase 1 30516-87-1 35370
10
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
11
Ribavirin Approved Phase 4,Phase 1 36791-04-5 37542
12
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
13
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
14
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
15
Drospirenone Approved Phase 4,Phase 1,Phase 2 67392-87-4 68873
16
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 50-28-2 5757
17
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 1,Phase 2 57-63-6 5991
18
Levonorgestrel Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 797-63-7, 17489-40-6 13109
19
Norgestrel Approved Phase 4 6533-00-2 13109
20
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
21
Menthol Approved Phase 4,Early Phase 1 2216-51-5 16666
22
Aminocaproic Acid Approved, Investigational Phase 4 60-32-2 564
23 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 1
24 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
25 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
26 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1
27 Anti-HIV Agents Phase 4,Phase 3,Phase 1
28 Anti-Infective Agents Phase 4,Phase 3,Phase 1
29 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
30 Anti-Retroviral Agents Phase 4,Phase 3,Phase 1
31 Antiviral Agents Phase 4,Phase 3,Phase 1
32 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1,Early Phase 1
33 Antibodies Phase 4,Phase 3,Phase 2,Phase 1
34 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1
35 Antifibrinolytic Agents Phase 4
36 HIV Protease Inhibitors Phase 4,Phase 1
37 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 1
38
protease inhibitors Phase 4,Phase 1
39 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 1
40 Interferon-alpha Phase 4
41 interferons Phase 4
42 Adjuvants, Immunologic Phase 4
43 Hylan Phase 4
44 Protective Agents Phase 4,Phase 3
45 triamcinolone acetonide Phase 4
46 Triamcinolone diacetate Phase 4
47 Triamcinolone hexacetonide Phase 4
48 Viscosupplements Phase 4
49 Contraceptive Agents Phase 4,Phase 3,Phase 1,Phase 2
50 Contraceptives, Oral Phase 4,Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 551)

# 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 Efficacy and Cost Effectiveness of Pharmacokinetic Dosing in Haemophilia A Completed NCT02697370 Phase 4 Pharmacokinetic based dosage change
3 Prophylaxis Versus on Demand Treatment for Children With Hemophilia A Completed NCT01810666 Phase 4
4 Study Evaluating Safety And Efficacy Of Moroctocog Alfa (AF-CC) In Previously Treated Hemophilia A Patients Completed NCT00914459 Phase 4
5 Pharmacokinetic Study of ADVATE 3000 IU in Previously Treated Patients With Severe Hemophilia A Completed NCT00916032 Phase 4
6 PF-05208756, Moroctocog Alfa (AF-CC), Xyntha For Hemophilia A Completed NCT02492984 Phase 4 Intravenous infusions of Xyntha
7 Pharmacokinetic Comparison of Advate rAHF-PFM With Recombinate rAHF in Patients With Severe Hemophilia A Completed NCT00666406 Phase 4 Antihemophilic Factor (Recombinant) - Plasma/Albumin Free Method (rAHF-PFM);Recombinant Factor VIII (rAHF)
8 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
9 Study Comparing Blood Levels of ReFacto and Advante in Hemophilia A Completed NCT00168051 Phase 4 ReFacto;Advante
10 Phase 3/4 Study of a Recombinant Protein-Free Factor VIII (rAHF-PFM): Comparison of Continuous Infusion Versus Intermittent Bolus Infusion in Hemophilia A Subjects Undergoing Major Orthopedic Surgery Completed NCT00357656 Phase 4 Recombinant Protein-Free Factor VIII (rAHF-PFM);Recombinant Protein-Free Factor VIII (rAHF-PFM)
11 Study Evaluating ReFacto® in Hemophilia A Undergoing Major Surgery Completed NCT00092976 Phase 4 ReFacto
12 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
13 Prophylaxis Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00243386 Phase 4 Antihemophilic factor, recombinant, manufactured protein-free;Antihemophilic factor, recombinant, manufactured protein-free
14 Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens Completed NCT00927667 Phase 4
15 Dose-Response Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00289536 Phase 4
16 Russian Kogenate Pediatric Study 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)
17 Canadian Hemophilia Prophylaxis Study Completed NCT01085344 Phase 4
18 Study of Safety And Efficacy Of ReFacto AF In Previously Untreated Hemophilia A Patients In The Usual Care Setting Completed NCT00950170 Phase 4
19 Survey of Inhibitors in Plasma-Product Exposed Toddlers Completed NCT01064284 Phase 4 PLASMA DERIVED Factor VIII;Recombinant FVIII
20 A Comparison Study of Bypassing Agent Therapy With and Without Tranexamic Acid in Haemophilia A Patients With Inhibitor Completed NCT01800435 Phase 4 aPCC, aPCC + TXA;rFVIIa, rFVIIa + TXA
21 China ADVATE PTP Study Completed NCT02170402 Phase 4
22 BAY14-2222 Prophylaxis and Joint Function Improvement (Adults) Completed NCT00586521 Phase 4 Kogenate (BAY14-2222)
23 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex in Surgical Subjects With Von Willebrand Disease (vWD) Completed NCT00168090 Phase 4 Blood coagulation Factor VIII and vWF, human
24 Effect of Indinavir Plus Two Other Anti-HIV Drugs on Blood Clotting in HIV-Positive Males With Hemophilia Completed NCT00002386 Phase 4 Indinavir sulfate;Lamivudine;Stavudine;Zidovudine;Zalcitabine;Didanosine
25 Safety and Efficacy of Activated Recombinant Human Factor VII in Haemophilia Patients With Inhibitors During and After Major Surgery Completed NCT01561391 Phase 4 activated recombinant human factor VII;activated recombinant human factor VII;factor VIII
26 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
27 A Study of PEGASYS (Peginterferon Alfa-2a (40KD)) Plus Ribavirin in Hemophiliac Patients With Chronic Hepatitis C. Completed NCT00475072 Phase 4 peginterferon alfa-2a [Pegasys];ribavirin
28 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
29 High Dose of Activated Recombinant Human Factor VII for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors Completed NCT00571584 Phase 4 activated recombinant human factor VII
30 Trial of NovoSeven® in Haemophilia - Joint Bleeds Completed NCT00108797 Phase 4 eptacog alfa (activated);Feiba VH
31 Investigate Impact of Yasmin vs Microgynon on Hemostasis Parameters in Healthy Women Completed NCT00651846 Phase 4 Yasmin (DRSP 3mg/EE 0.03 mg);Microgynon (LNG 0.15 mg/EE 0.03 mg)
32 Study of Voncento® in Subjects With Von Willebrand Disease Completed NCT02552576 Phase 4
33 Safety and Efficacy of Benefix in Patients With Hemophilia B in Usual Care Settings in China Completed NCT02336178 Phase 4 Benefix
34 IMMUNINE Pre-Treatment Study Completed NCT01128881 Phase 4
35 Study Evaluating BeneFIX in Patients With Haemophilia B, Previously Treated With Plasma Derived Factor IX Completed NCT00749476 Phase 4
36 Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B Completed NCT00581126 Phase 4 Recombinant Factor IX Coagulation
37 Prospective Registry of European Hemophilia B Patients Receiving BeneFIX® for Usual Use Completed NCT00167973 Phase 4
38 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4 human coagulation Factor IX
39 Study Evaluating Allergic Reactions To Benefix In Hemophilia B Patients Completed NCT00244114 Phase 4 blood draw
40 Study to Describe the Allergic Reactions to Factor IX in Patients With Hemophilia B Completed NCT00195221 Phase 4
41 Platelet Function And Aggregometry In Patients With Aortic Valve Stenosis Completed NCT00156520 Phase 4 aprotonin; epsilon aminocaproic acid
42 Pegasys® Plus Ribavirin in Hemophilic Patients With Hepatitis C Virus Infection Completed NCT00707772 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin);PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
43 Safety Study of Alphanate in Previously Treated Patients With Severe Hemophilia A Recruiting NCT00323856 Phase 4 Alphanate SD/HT
44 Safety/Efficacy Study to Assess Whether FVIII/VWF Concentrate Can Induce Immune Tolerance in Haemophilia A Patients Recruiting NCT02479087 Phase 4 Plasma-derived FVIII/VWF concentrate
45 Study of rFVIIIFc for ITI in Haemophilia A Patients With Inhibitors Who Have Failed Previous ITI Therapies Recruiting NCT03103542 Phase 4
46 Study of Emicizumab Prophylaxis in Participants With Hemophilia A and Inhibitors Undergoing Minor Surgical Procedures Recruiting NCT03361137 Phase 4 Emicizumab
47 Exercise Versus DDAVP in Patients With Mild Hemophilia A Recruiting NCT03379974 Phase 4 DDAVP Inhalant Product
48 DDAVP vs. Exercise in Patients With Mild Hemophilia A Recruiting NCT03136003 Phase 4 DDAVP
49 A Study to Evaluate Efficacy of rFVIIIFc for Immune Tolerance Induction (ITI) in Severe Hemophilia A Participants With Inhibitors Undergoing the First ITI Treatment (verITI-8 Study) Recruiting NCT03093480 Phase 4
50 INdividualized ITI Based on Fviii(ATE) Protection by VWF Recruiting NCT03204539 Phase 4 Wilate

Search NIH Clinical Center for Hemophilia a

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Hemophilia a

Anatomical Context for Hemophilia a

MalaCards organs/tissues related to Hemophilia a:

38
Testes, Liver, Brain, Bone, Skin, Breast, T Cells

Publications for Hemophilia a

Articles related to Hemophilia a:

(show top 50) (show all 827)
# Title Authors Year
1
Modified Primary Prophylaxis in Previously Untreated Patients With Severe Hemophilia A in Iran. ( 29356759 )
2018
2
Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the<i>F8</i>gene. ( 29386375 )
2018
3
Analyses of the FranceCoag cohort support differences in immunogenicity among one plasma-derived and two recombinant factor VIII brands in boys with severe hemophilia A. ( 29025913 )
2018
4
Replacement therapy for coronary artery bypass surgery in patients with hemophilia A and B. ( 29439283 )
2018
5
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization. ( 29357978 )
2018
6
Inhibitors in Nonsevere Hemophilia A: What Is Known and Searching for the Unknown. ( 29439277 )
2018
7
Desmopressin in moderate hemophilia A patients: a treatment worth considering. ( 29305412 )
2018
8
Continuous infusions of B domain-truncated recombinant factor VIII, turoctocog alfa, for orthopedic surgery in severe hemophilia A: first case report. ( 29383626 )
2018
9
Risk of major comorbidities among workers with hemophilia: A 14-year population-based study. ( 29419677 )
2018
10
Oxidation of factor VIII increases its immunogenicity in mice with severe hemophilia A. ( 29395036 )
2018
11
Optimization of prophylaxis for hemophilia A. ( 29447219 )
2018
12
Successful endoscopic sphincterotomy for choledocholithiasis in a patient with severe hemophilia A and inhibitors. ( 29396835 )
2018
13
Novel therapies and current clinical progress in hemophilia A. ( 29387330 )
2018
14
Successful management of concurrent acquired hemophilia A and a lupus anticoagulant in a pediatric hematopoietic stem cell transplant patient. ( 29330401 )
2018
15
Status and trend analysis of prophylactic usage of recombinant Factor VIII in chinese pediatric patients with hemophilia A: ReCare- A Retrospective, Phase IV, Non-Interventional Study. ( 28532239 )
2017
16
Bypassing agent prophylaxis in people with hemophilia A or B with inhibitors. ( 28944952 )
2017
17
Acquired Hemophilia A in an advanced age patient of hispanic origin: a case report. ( 28870236 )
2017
18
Acquired hemophilia A: a review of recent data and new therapeutic options. ( 28441921 )
2017
19
Frequency and epitope specificity of anti-factor VIII C1 domain antibodies in acquired and congenital hemophilia A. ( 28507083 )
2017
20
Acquired hemophilia A resolution in a hepatitis C virus/human immunodeficiency virus-coinfected patient with cure of hepatitis C by direct-acting antiviral agents. ( 28960371 )
2017
21
Screening of Intron 1 Inversion of the Factor VIII Gene in 130 Patients with Severe Hemophilia A from a Pakistani Cohort. ( 28294101 )
2017
22
Long-term correction of hemophilia A mice following lentiviral mediated delivery of an optimized canine factor VIII gene. ( 28905885 )
2017
23
Emerging Therapeutic Strategies in the Treatment of Hemophilia A. ( 28750425 )
2017
24
Hemorrhagic pericardial effusion as the debut of acquired hemophilia in a chronic lymphocytic leukemia patient: A case report, and a review of acquired hemophilia A-related hematological malignancies. ( 29381944 )
2017
25
Early cellular interactions and immune transcriptome profiles in human factor VIII-exposed hemophilia A mice. ( 29285874 )
2017
26
Discarding Occam's Razor: Atypical Bruising in Severe Hemophilia A. ( 28952372 )
2017
27
Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A. ( 28056528 )
2017
28
Cost-utility analysis of life-long prophylaxis with recombinant factor VIIIFc vs recombinant factor VIII for the management of severe hemophilia A in Sweden. ( 29139314 )
2017
29
Iranian Low-dose Escalating Prophylaxis Regimen in Children with Severe Hemophilia A and B. ( 28049359 )
2017
30
Disappearance of acquired hemophilia A after complete remission in a Multiple Myeloma patient. ( 28077343 )
2017
31
Elucidation of Factor VIII Activity Pharmacokinetics: a Pooled Population Analysis in Hemophilia A Patients Treated with Moroctocog Alfa. ( 28437834 )
2017
32
Successful total hip replacement with sequential administration of bypassing agents in an adolescent boy with hemophilia A and high inhibitor titers. ( 28079537 )
2017
33
Long-term efficacy and safety of prophylaxis with recombinant factor VIII in Chinese pediatric patients with hemophilia A: a multi-center, retrospective, non-interventional, phase IV (ReCARE) study. ( 28326849 )
2017
34
Assessment of healthcare measures, healthcare resource use, and cost of care among severe hemophilia A patients in Mumbai region of India. ( 29067924 )
2017
35
Immune tolerance induced by platelet-targeted factor VIII gene therapy in hemophilia A mice is CD4 T cell mediated. ( 28799202 )
2017
36
First report of real-time monitoring of coagulation function potential and IgG subtype of anti-FVIII autoantibodies in a child with acquired hemophilia A associated with streptococcal infection and amoxicillin. ( 28597369 )
2017
37
Acquired hemophilia A manifesting as plasma transfusion-uncontrolled severe bleeding 2 weeks after chorioamnionitis-induced abortion. ( 28150393 )
2017
38
A Case of Hemophilia A Presenting in a Neonate and a Review of the Literature. ( 28321438 )
2017
39
Successful management of recurrent bleeding with tocilizumab in an acquired hemophilia A patient with rheumatoid arthritis. ( 28781267 )
2017
40
A case report of acute inferior myocardial infarction in a patient with severe hemophilia A after recombinant factor VIII infusion. ( 29384900 )
2017
41
Acquired Hemophilia A in a Patient with Non-Small Cell Lung Carcinoma: A Rare Paraneoplastic Phenomenon. ( 28457068 )
2017
42
Novel Mutations Resulting in a Moderate to Severe Phenotypic Manifestation of Hemophilia A in a Female. ( 28452855 )
2017
43
Acquired hemophilia A: Updated review of evidence and treatment guidance. ( 28470674 )
2017
44
Safety, efficacy and pharmacokinetics of rVIII-SingleChain in children with severe hemophilia A: results of a multicenter clinical trial. ( 28166608 )
2017
45
Open repair of intraoperative popliteal artery injury during total knee arthroplasty in a patient with severe hemophilia A: A case report and literature review. ( 29145340 )
2017
46
IgG subclasses of FVIII inhibitors in an argentine cohort of severe hemophilia A patients: Analysis by flow cytometry. ( 28612430 )
2017
47
Genetic risk stratification to reduce inhibitor development in the early treatment of hemophilia A: a SIPPET analysis. ( 28768627 )
2017
48
Characterization of AAV-mediated human factor VIII gene therapy in hemophilia A mice. ( 28056565 )
2017
49
Acquired hemophilia A in a patient treated by Ginkgo-dipyridamolum. ( 28174634 )
2017
50
A retrospective study of cytokine profiles changes in mice with FVIII inhibitor development after AAV mediated gene therapy in hemophilia A mouse model. ( 28922951 )
2017

Variations for Hemophilia a

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

71 (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

ClinVar genetic disease variations for Hemophilia a:

6 (show top 50) (show all 271)
# Gene Variation Type Significance SNP ID Assembly Location
1 F8 NM_000132.3(F8): c.6976C> T (p.Arg2326Ter) single nucleotide variant Pathogenic rs137852354 GRCh37 Chromosome X, 154065952: 154065952
2 F8 NM_000132.3(F8): c.6682C> T (p.Arg2228Ter) single nucleotide variant Pathogenic rs137852355 GRCh37 Chromosome X, 154090034: 154090034
3 F8 F8, EX26DEL deletion Pathogenic
4 F8 NM_000132.3(F8): c.6403C> T (p.Arg2135Ter) single nucleotide variant Pathogenic rs137852356 GRCh37 Chromosome X, 154124378: 154124378
5 F8 F8, EX6DEL deletion Pathogenic
6 F8 F8, EX14DEL deletion Pathogenic
7 F8 F8, EX24-25DEL deletion Pathogenic
8 F8 F8, EX23-25DEL deletion Pathogenic
9 F8 F8, EX22DEL deletion Pathogenic
10 F8 F8, EX26DEL deletion Pathogenic
11 F8 F8, EX1DEL deletion Pathogenic
12 F8 NM_000132.3(F8): c.6496C> T (p.Arg2166Ter) single nucleotide variant Pathogenic rs137852357 GRCh37 Chromosome X, 154091436: 154091436
13 F8 NM_000132.3(F8): c.601+1632G> A single nucleotide variant Pathogenic rs387906429 GRCh37 Chromosome X, 154219579: 154219579
14 F8 NM_000132.3(F8): c.6683G> A (p.Arg2228Gln) single nucleotide variant Pathogenic rs137852358 GRCh37 Chromosome X, 154090033: 154090033
15 F8 NM_000132.3(F8): c.872A> G (p.Glu291Gly) single nucleotide variant Pathogenic rs137852359 GRCh37 Chromosome X, 154197743: 154197743
16 F8 F8, EX2-3DEL deletion Pathogenic
17 F8 F8, EX3-13DEL deletion Pathogenic
18 F8 F8, EX4-25DEL deletion Pathogenic
19 F8 F8, EX7-14DEL deletion Pathogenic
20 F8 F8, EX26DEL deletion Pathogenic
21 F8 F8, LINE INS, EX14 insertion Pathogenic
22 F8 F8, EX15DEL deletion Pathogenic
23 F8 F8, 2-BP DEL, EX8 deletion Pathogenic
24 F8 NM_000132.3(F8): c.6977G> T (p.Arg2326Leu) single nucleotide variant Pathogenic rs137852360 GRCh37 Chromosome X, 154065951: 154065951
25 F8 NM_000132.3(F8): c.5879G> A (p.Arg1960Gln) single nucleotide variant Pathogenic rs28937294 GRCh37 Chromosome X, 154132300: 154132300
26 F8 NM_000132.3(F8): c.1172G> A (p.Arg391His) single nucleotide variant Pathogenic rs28935499 GRCh37 Chromosome X, 154194800: 154194800
27 F8 NM_000132.3(F8): c.5113C> T (p.Gln1705Ter) single nucleotide variant Pathogenic rs137852361 GRCh37 Chromosome X, 154156952: 154156952
28 F8 F8, EX14DEL deletion Pathogenic
29 F8 NM_000132.3(F8): c.5122C> T (p.Arg1708Cys) single nucleotide variant Pathogenic rs111033613 GRCh37 Chromosome X, 154156943: 154156943
30 F8 NM_000132.3(F8): c.5096A> T (p.Tyr1699Phe) single nucleotide variant Pathogenic rs28935203 GRCh37 Chromosome X, 154156969: 154156969
31 F8 NM_000132.3(F8): c.5183A> G (p.Tyr1728Cys) single nucleotide variant Pathogenic rs137852362 GRCh37 Chromosome X, 154156882: 154156882
32 F8 F8, EX11-18DEL deletion Pathogenic
33 F8 NM_000132.3(F8): c.5878C> T (p.Arg1960Ter) single nucleotide variant Pathogenic rs137852363 GRCh37 Chromosome X, 154132301: 154132301
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 GRCh37 Chromosome X, 154194801: 154194801
40 F8 NM_000132.3(F8): c.6977G> A (p.Arg2326Gln) single nucleotide variant Pathogenic rs137852360 GRCh37 Chromosome X, 154065951: 154065951
41 F8 NM_000132.3(F8): c.6554T> C (p.Leu2185Ser) single nucleotide variant Pathogenic rs137852365 GRCh37 Chromosome X, 154091378: 154091378
42 F8 NM_000132.3(F8): c.6404G> C (p.Arg2135Pro) single nucleotide variant Pathogenic rs137852366 GRCh37 Chromosome X, 154124377: 154124377
43 F8 NM_000132.3(F8): c.566C> T (p.Ser189Leu) single nucleotide variant Pathogenic rs137852367 GRCh37 Chromosome X, 154221246: 154221246
44 F8 F8, EX15-18DEL deletion Pathogenic
45 F8 NM_000132.3(F8): c.2114-?_5219+?del (p.?) deletion Pathogenic GRCh37 Chromosome X, 154134848: 154175973
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

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
12.88 F10 F3 F5 F7 F8 F9
2
Show member pathways
12.35 F10 F3 F5 F7 F8 F9
3
Show member pathways
11.7 F10 F3 F5 F7 F8 F9
4
Show member pathways
11.58 F10 F7 F9
5 11.35 F3 VWF
6 11.31 F10 F3 F5 F7 F8 F9
7 10.67 F10 F7 F9

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 F3 F5 F7 F8 F9
2 Golgi lumen GO:0005796 9.54 F10 F7 F9
3 platelet alpha granule lumen GO:0031093 9.5 F5 F8 VWF
4 extracellular region GO:0005576 9.5 F10 F3 F5 F7 F8 F9
5 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.48 F5 F8
6 COPII-coated ER to Golgi transport vesicle GO:0030134 9.43 F5 F8
7 platelet alpha granule GO:0031091 9.4 F5 VWF
8 intrinsic component of external side of plasma membrane GO:0031233 9.26 F10 F3
9 serine-type peptidase complex GO:1905286 9.16 F3 F7
10 endoplasmic reticulum lumen GO:0005788 9.02 F10 F5 F7 F8 F9

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.72 F10 F5 F7 F8 F9
2 positive regulation of cell migration GO:0030335 9.69 F10 F3 F7
3 positive regulation of protein kinase B signaling GO:0051897 9.67 F10 F3 F7
4 platelet degranulation GO:0002576 9.63 F5 F8 VWF
5 signal peptide processing GO:0006465 9.58 F10 F7 F9
6 blood coagulation, intrinsic pathway GO:0007597 9.56 F10 F8 F9 VWF
7 COPII vesicle coating GO:0048208 9.54 F5 F8
8 peptidyl-glutamic acid carboxylation GO:0017187 9.54 F10 F7 F9
9 protein processing GO:0016485 9.52 F3 F7
10 blood coagulation GO:0007596 9.5 F10 F3 F5 F7 F8 F9
11 positive regulation of positive chemotaxis GO:0050927 9.48 F3 F7
12 blood coagulation, extrinsic pathway GO:0007598 9.46 F10 F3 F7 F9
13 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.43 F3 F7
14 hemostasis GO:0007599 9.17 F10 F3 F5 F7 F8 F9

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

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 9.26 F7 F9
2 copper ion binding GO:0005507 9.16 F5 F8
3 serine-type peptidase activity GO:0008236 9.13 F10 F7 F9
4 serine-type endopeptidase activity GO:0004252 8.92 F10 F3 F7 F9

Sources for Hemophilia a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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