MCID: HMP029
MIFTS: 64

Hemophilia a

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Hemophilia a

MalaCards integrated aliases for Hemophilia a:

Name: Hemophilia a 54 12 23 50 24 56 71 13 52 42 69
Factor Viii Deficiency 12 23 50 24 56 71 14 69
Classic Hemophilia 50 24 71
Factor 8 Deficiency 50 71
Congenital Factor Viii Disorder 12
Hemophilia a, Congenital 50
Classical Hemophilia 50
Hemophilia, Classic 50
Subhemophilia 12
Haemophilia a 50
Hem a 50
Hema 71

Characteristics:

Orphanet epidemiological data:

56
hemophilia a
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (France),1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
x-linked recessive

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



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 54 306700
Disease Ontology 12 DOID:12134
ICD10 33 D66
ICD9CM 35 286.0
MeSH 42 D006467
NCIt 47 C27146
SNOMED-CT 64 28293008
Orphanet 56 ORPHA98878
MESH via Orphanet 43 D006467
UMLS via Orphanet 70 C0019069 C3494187
ICD10 via Orphanet 34 D66
UMLS 69 C0019069

Summaries for Hemophilia a

OMIM : 54
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 von willebrand disease, type 1 and von willibrand disease, type 3, and has symptoms including osteoarthritis, abnormal bleeding and persistent bleeding after trauma. 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, brain and liver, and related phenotypes are cardiovascular system and homeostasis/metabolism

Disease Ontology : 12 An X-linked disease that has material basis in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.

NIH Rare Diseases : 50 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.

GeneReviews: NBK1404

Related Diseases for Hemophilia a

Diseases in the Hemophilia family:

Hemophilia B Hemophilia a
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 258)
id Related Disease Score Top Affiliating Genes
1 von willebrand disease, type 1 31.7 F7 VWF
2 von willibrand disease, type 3 30.6 F2 F3 F8 VWF
3 hemolytic-uremic syndrome 28.6 F2 F3 SERPINC1
4 ischemic heart disease 28.5 F2 SERPINC1 VWF
5 factor x deficiency 28.2 F2 F3 F7 F8 F9
6 pericarditis 27.8 F3 F5 SERPINC1 VWF
7 essential thrombocythemia 26.3 F2 F3 F7 F8 F9 SERPINC1
8 myocardial infarction 25.1 F11 F2 F3 F5 F7 F8
9 acquired hemophilia a 12.3
10 severe hemophilia a 12.1
11 mild hemophilia a 12.1
12 moderately severe hemophilia a 12.1
13 multiple sclerosis-ichthyosis-factor viii deficiency syndrome 12.0
14 symptomatic form of hemophilia a in female carriers 11.9
15 hemophilia 11.4
16 hemophilia b 11.2
17 immunodeficiency 32a, mycobacteriosis, autosomal dominant 11.1
18 intermediate anorectal malformation 10.7 F8 F9
19 von willebrand disease, types 2a, 2b, 2m, and 2n 10.6
20 ubqln2-related amyotrophic lateral sclerosis/frontotemporal dementia 10.6 F8 VWF
21 uchl1-related parkinson disease susceptibility 10.6 F8 VWF
22 mild hemophilia b 10.6 F8 VWF
23 floppy infant syndrome 10.6 F8 VWF
24 ube2t-related fanconi anemia 10.6 F8 VWF
25 multiple congenital anomalies mental retardation, growth failure and cleft lip palate 10.5 F3 F8
26 renal adenoma 10.5 F8 VWF
27 acquired hemophilia 10.5
28 social phobia 10.4 F2 F8
29 hyperthyroidism 10.4 F2 F3
30 brain stem glioma 10.4 F2 F3
31 vaginal yolk sac tumor 10.4 F7 F9
32 sporotrichosis 10.4 F2 F3
33 chronic inflammatory demyelinating polyneuritis 10.4 F2 F3
34 brain ependymoma 10.4 F2 VWF
35 rete ovarii adenoma 10.4 F2 F8
36 factor v and factor viii, combined deficiency of 10.4 F5 F8
37 arcus senilis 10.4 F11 F3
38 porphyria 10.3 F2 F7
39 red color blindness 10.3 F2 F3
40 hydrarthrosis 10.3 F7 F9
41 microcephaly 8, primary, autosomal recessive 10.3 F2 F3
42 myxomatous pattern testicular yolk sac tumor 10.3 F5 F8
43 cavernous lymphangioma 10.3 F3 F5
44 rheumatic heart disease 10.3 F2 F3
45 autosomal recessive disease 10.3 F8 F9
46 thumb stiff brachydactyly mental retardation 10.3 F3 F8 VWF
47 psychologic dyspareunia 10.2 F2 VWF
48 variably protease-sensitive prionopathy 10.2 F2 F5
49 autonomic neuropathy 10.2 F2 F8 F9
50 lockwood feingold syndrome 10.2 F2 F5

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:

54

Laboratory- Abnormalities:
platelet count normal
factor viii deficiency
ptt prolonged
pt normal
platelet function normal
more
Skin Nails & Hair- Skin:
ecchymoses common
petechiae and purpura do not occur

Skeletal- Limbs:
hemarthroses
degenerative joint disease


Clinical features from OMIM:

306700

Human phenotypes related to Hemophilia a:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 osteoarthritis 32 HP:0002758
2 abnormal bleeding 32 HP:0001892
3 persistent bleeding after trauma 32 HP:0001934
4 prolonged partial thromboplastin time 32 HP:0003645
5 bruising susceptibility 32 HP:0000978
6 reduced factor viii activity 32 HP:0003125
7 joint hemorrhage 32 HP:0005261

MGI Mouse Phenotypes related to Hemophilia a:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.92 F11 F2 F3 F5 F7 F9
2 homeostasis/metabolism MP:0005376 9.81 F8 F9 SERPINC1 VWF F11 F2
3 hematopoietic system MP:0005397 9.8 F11 F2 F3 F8 F9 SERPINC1
4 immune system MP:0005387 9.5 F11 F2 F3 F8 F9 SERPINC1
5 mortality/aging MP:0010768 9.28 F11 F2 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 197)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved Phase 4,Phase 2,Phase 3
2
Benzocaine Approved 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 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 71273 175805
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 2,Phase 1 50-28-2 5757
17
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1 57-63-6 5991
18
Levonorgestrel Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 797-63-7, 17489-40-6 13109
19
Norgestrel Approved Phase 4 6533-00-2 13109
20
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
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
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 2,Phase 1
50 Contraceptives, Oral Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 524)

id 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 Study Comparing Blood Levels of ReFacto and Advante in Hemophilia A Completed NCT00168051 Phase 4 ReFacto;Advante
4 Prophylaxis Versus on Demand Treatment for Children With Hemophilia A Completed NCT01810666 Phase 4
5 Study Evaluating ReFacto® in Hemophilia A Undergoing Major Surgery Completed NCT00092976 Phase 4 ReFacto
6 Study Evaluating Safety And Efficacy Of Moroctocog Alfa (AF-CC) In Previously Treated Hemophilia A Patients Completed NCT00914459 Phase 4
7 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)
8 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)
9 Pharmacokinetic Study of ADVATE 3000 IU in Previously Treated Patients With Severe Hemophilia A Completed NCT00916032 Phase 4
10 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
11 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
12 PF-05208756, Moroctocog Alfa (AF-CC), Xyntha For Hemophilia A Completed NCT02492984 Phase 4 Intravenous infusions of Xyntha
13 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
14 Dose-Response Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00289536 Phase 4
15 Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens Completed NCT00927667 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 Safety and Efficacy of Benefix in Patients With Hemophilia B in Usual Care Settings in China Completed NCT02336178 Phase 4 Benefix
33 IMMUNINE Pre-Treatment Study Completed NCT01128881 Phase 4
34 Study Evaluating BeneFIX in Patients With Haemophilia B, Previously Treated With Plasma Derived Factor IX Completed NCT00749476 Phase 4
35 Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B Completed NCT00581126 Phase 4 Recombinant Factor IX Coagulation
36 Prospective Registry of European Hemophilia B Patients Receiving BeneFIX® for Usual Use Completed NCT00167973 Phase 4
37 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4 human coagulation Factor IX
38 Study Evaluating Allergic Reactions To Benefix In Hemophilia B Patients Completed NCT00244114 Phase 4 blood draw
39 Study to Describe the Allergic Reactions to Factor IX in Patients With Hemophilia B Completed NCT00195221 Phase 4
40 Platelet Function And Aggregometry In Patients With Aortic Valve Stenosis Completed NCT00156520 Phase 4 aprotonin; epsilon aminocaproic acid
41 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)
42 Safety Study of Alphanate in Previously Treated Patients With Severe Hemophilia A Recruiting NCT00323856 Phase 4 Alphanate SD/HT
43 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
44 Study of rFVIIIFc for ITI in Haemophilia A Patients With Inhibitors Who Have Failed Previous ITI Therapies Recruiting NCT03103542 Phase 4
45 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
46 DDAVP vs. Exercise Recruiting NCT03136003 Phase 4 DDAVP intervention
47 INdividualized ITI Based on Fviii(ATE) Protection by VWF Recruiting NCT03204539 Phase 4 Wilate
48 Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand Patients Recruiting NCT00555555 Phase 4
49 A Clinical Phenotype Based Individualized Prophylaxis in Chinese Hemophilia A Children Recruiting NCT02999308 Phase 4
50 Efficacy and Safety of Fanhdi®, a High-purity Von Willebrand Containing FVIII Concentrate, in Pediatric Patients With Von Willebrand Disease Recruiting NCT02472665 Phase 4 plasma-derived FVIII/VWF concentrate Fanhdi

Search NIH Clinical Center for Hemophilia a

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hemophilia a

Genetic Tests for Hemophilia a

Genetic tests related to Hemophilia a:

id Genetic test Affiliating Genes
1 Hemophilia a 24 F8

Anatomical Context for Hemophilia a

MalaCards organs/tissues related to Hemophilia a:

39
Testes, Brain, Liver, Bone, Breast, Skin, T Cells

Publications for Hemophilia a

Articles related to Hemophilia a:

(show top 50) (show all 798)
id Title Authors Year
1
Mortality caused by intracranial bleeding in non-severe hemophilia A patients. ( 28374963 )
2017
2
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
3
Acquired Hemophilia A After Hepatic Yttrium-90 Radioembolization: A Case Report. ( 28767473 )
2017
4
Revascularization strategies and in-hospital management in acute coronary syndromes complicated by hemophilia A or hemophilia B. ( 28763308 )
2017
5
Perioperative Coagulation Management of a Hemophilia A Patient During Cardiac Surgery. ( 28388863 )
2017
6
Chromogenic Factor VIII Assays for Improved Diagnosis of Hemophilia A. ( 28804835 )
2017
7
Mortality caused by intracranial bleeding in non-severe hemophilia A patients: comment. ( 28600843 )
2017
8
Acquired hemophilia A: Updated review of evidence and treatment guidance. ( 28470674 )
2017
9
Treatment and complications in acquired hemophilia A. Experience from a single center. ( 28919213 )
2017
10
Screening of Intron 1 Inversion of the Factor VIII Gene in 130 Patients with Severe Hemophilia A from a Pakistani Cohort. ( 28294101 )
2017
11
Minimally Invasive Aortic Valve Replacement in a Patient With Severe Hemophilia A. ( 28153454 )
2017
12
Mortality caused by intracranial bleeding in non-severe hemophilia A patients: reply. ( 28618141 )
2017
13
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
14
Biodistribution of Liver-Derived Mesenchymal Stem Cells After Peripheral Injection in a Hemophilia A Patient. ( 28738402 )
2017
15
Acquired hemophilia A manifesting as plasma transfusion-uncontrolled severe bleeding 2 weeks after chorioamnionitis-induced abortion. ( 28150393 )
2017
16
Acquired Hemophilia A in a Patient with Non-Small Cell Lung Carcinoma: A Rare Paraneoplastic Phenomenon. ( 28457068 )
2017
17
Long-term correction of hemophilia A mice following lentiviral mediated delivery of an optimized canine factor VIII gene. ( 28905885 )
2017
18
Acquired hemophilia A following generalized pustular psoriasis of pregnancy. ( 28771773 )
2017
19
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
20
Immune tolerance induced by platelet-targeted factor VIII gene therapy in hemophilia A mice is CD4 T cell mediated. ( 28799202 )
2017
21
Bypassing agent prophylaxis in people with hemophilia A or B with inhibitors. ( 28944952 )
2017
22
Emerging Therapeutic Strategies in the Treatment of Hemophilia A. ( 28750425 )
2017
23
Safety, efficacy and pharmacokinetics of rVIII-SingleChain in children with severe hemophilia A: results of a multicenter clinical trial. ( 28166608 )
2017
24
A Case of Hemophilia A Presenting in a Neonate and a Review of the Literature. ( 28321438 )
2017
25
Successful Management of Acquired Hemophilia A Associated with Bullous Pemphigoid: A Case Report and Review of the Literature. ( 28458935 )
2017
26
Initial Manifestation of Acquired Hemophilia A After a Routine Tooth Extraction. A Case Report and Literature Review. ( 28886353 )
2017
27
Single-tube tetradecaplex panel of highly polymorphic microsatellite markers < 1 Mb from F8 for simplified preimplantation genetic diagnosis of hemophilia A. ( 28345288 )
2017
28
An extra X does not prevent acquired hemophilia - Pregnancy-associated acquired hemophilia A. ( 28262242 )
2017
29
Novel Mutations Resulting in a Moderate to Severe Phenotypic Manifestation of Hemophilia A in a Female. ( 28452855 )
2017
30
Clinical characteristics and outcomes of acquired hemophilia A: experience at a single center in Japan. ( 28299631 )
2017
31
PK-driven prophylaxis versus standard prophylaxis: When a tailored treatment may be a real and achievable cost-saving approach in children with severe hemophilia A. ( 28692842 )
2017
32
Perioperative Considerations in a Patient with Hemophilia A: A Case Report and Review of Literature. ( 28298793 )
2017
33
Acquired hemophilia A: a review of recent data and new therapeutic options. ( 28441921 )
2017
34
Direct and indirect gene diagnosis of hemophilia A pedigrees in the Chinese population. ( 28849064 )
2017
35
Genetic risk stratification to reduce inhibitor development in the early treatment of hemophilia A: a SIPPET analysis. ( 28768627 )
2017
36
Autoimmune bullous disease and Hashimoto's disease complicated by acquired hemophilia A. ( 28381691 )
2017
37
Prediction of Intraoperative Blood Loss during Total Knee Arthroplasty in HCV+ and HCV- Patients with Hemophilia A. ( 28361432 )
2017
38
Frequency and epitope specificity of anti-factor VIII C1 domain antibodies in acquired and congenital hemophilia A. ( 28507083 )
2017
39
Elucidation of Factor VIII Activity Pharmacokinetics: a Pooled Population Analysis in Hemophilia A Patients Treated with Moroctocog Alfa. ( 28437834 )
2017
40
Acquired hemophilia A in a patient treated by Ginkgo-dipyridamolum. ( 28174634 )
2017
41
Iranian Low-dose Escalating Prophylaxis Regimen in Children with Severe Hemophilia A and B. ( 28049359 )
2017
42
Nasal hemophilic pseudotumor in a patient with mild hemophilia A and allergic rhinitis. ( 28211222 )
2017
43
CannavA^ A, Valsecchi C, Garagiola I, et al. Nonneutralizing antibodies against factor VIII and risk of inhibitor development in severe hemophilia A. Blood. 2017;129(10):1245-1250. ( 28705864 )
2017
44
Point-of-care ultrasonography (POCUS) in hemophilia A: a commentary on current status and its potential role for improving prophylaxis management in severe hemophilia A. ( 28491266 )
2017
45
Acquired Hemophilia A in an advanced age patient of hispanic origin: a case report. ( 28870236 )
2017
46
Regulatory B Cells Are Functionally Impaired in Patients Having Hemophilia A With Inhibitors. ( 28393618 )
2017
47
Intensity of factor VIII treatment and the development of inhibitors in nonsevere hemophilia A patients: results of the INSIGHT case-control study. ( 28440011 )
2017
48
Bleeding risk assessment in hemophilia A carriers from Dakar, Senegal. ( 28731872 )
2017
49
Successful total hip replacement with sequential administration of bypassing agents in an adolescent boy with hemophilia A and high inhibitor titers. ( 28079537 )
2017
50
Efficacy of standard prophylaxis versus on-demand treatment with bayer's sucrose-formulated recombinant FVIII (rFVIII-FS) in Chinese children with severe hemophilia A. ( 28727494 )
2017

Variations for Hemophilia a

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

71 (show top 50) (show all 472)
id 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 rs28935205
8 F8 p.Val104Asp VAR_001053 rs28935206
9 F8 p.Lys108Thr VAR_001054 rs28935207
10 F8 p.Met110Val VAR_001055 rs28936083
11 F8 p.Leu117Arg VAR_001056 rs28935208
12 F8 p.Glu129Val VAR_001057
13 F8 p.Gly130Arg VAR_001058 rs137852387
14 F8 p.Glu132Asp VAR_001059 rs28935209
15 F8 p.Tyr133Cys VAR_001060 rs28935210
16 F8 p.Asp135Gly VAR_001061 rs28935211
17 F8 p.Thr137Ile VAR_001062 rs137852391
18 F8 p.Gly164Val VAR_001063 rs28935212
19 F8 p.Pro165Ser VAR_001064 rs28935213
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 rs28935215
32 F8 p.Arg301His VAR_001077 rs28935216
33 F8 p.Arg301Leu VAR_001078 rs137852403
34 F8 p.Ser308Leu VAR_001079 rs28937268
35 F8 p.Phe312Ser VAR_001080 rs137852405
36 F8 p.Thr314Ala VAR_001081 rs28937269
37 F8 p.Thr314Ile VAR_001082
38 F8 p.Leu327Pro VAR_001083 rs28937270
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 269)
id 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
id 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 F11 F2 F3 F5 F7 F8
2
Show member pathways
12.48 F11 F2 F3 F5 F7 F8
3 11.75 F11 F2 F3 F5 F7 F8
4
Show member pathways
11.58 F2 F7 F9
5
Show member pathways
11.48 F11 F2 F3 F5 F7 F8
6 11.11 F2 VWF
7 10.67 F2 F7 F9

GO Terms for Hemophilia a

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.95 F11 F2 F3 F9 SERPINC1 VWF
2 extracellular space GO:0005615 9.76 F11 F2 F3 F5 F7 F8
3 extracellular region GO:0005576 9.61 F11 F2 F3 F5 F7 F8
4 Golgi lumen GO:0005796 9.54 F2 F7 F9
5 platelet alpha granule lumen GO:0031093 9.5 F5 F8 VWF
6 ER to Golgi transport vesicle GO:0030134 9.46 F5 F8
7 platelet alpha granule GO:0031091 9.4 F5 VWF
8 serine-type peptidase complex GO:1905286 9.26 F3 F7
9 endoplasmic reticulum lumen GO:0005788 9.1 F2 F5 F7 F8 F9 SERPINC1
10 plasma membrane GO:0005886 10.03 F11 F2 F3 F5 F7 F8

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.87 F11 F2 F7 F9
2 cellular protein metabolic process GO:0044267 9.72 F2 F5 SERPINC1
3 ER to Golgi vesicle-mediated transport GO:0006888 9.72 F2 F5 F7 F8 F9
4 platelet degranulation GO:0002576 9.71 F5 F8 VWF
5 platelet activation GO:0030168 9.69 F2 F8 VWF
6 regulation of blood coagulation GO:0030193 9.61 F11 F2 SERPINC1
7 blood coagulation GO:0007596 9.61 F11 F2 F3 F5 F7 F8
8 signal peptide processing GO:0006465 9.58 F2 F7 F9
9 acute-phase response GO:0006953 9.56 F2 F8
10 blood coagulation, intrinsic pathway GO:0007597 9.55 F11 F2 F8 F9 VWF
11 peptidyl-glutamic acid carboxylation GO:0017187 9.54 F2 F7 F9
12 positive regulation of blood coagulation GO:0030194 9.52 F2 F7
13 positive regulation of positive chemotaxis GO:0050927 9.49 F3 F7
14 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.48 F3 F7
15 response to vitamin K GO:0032571 9.46 F5 F7
16 blood coagulation, extrinsic pathway GO:0007598 9.43 F3 F7 F9
17 hemostasis GO:0007599 9.28 F11 F2 F3 F5 F7 F8

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

id Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.62 F11 F2 F7 F9
2 heparin binding GO:0008201 9.43 F11 F2 SERPINC1
3 protease binding GO:0002020 9.33 F3 SERPINC1 VWF
4 serine-type peptidase activity GO:0008236 9.26 F11 F2 F7 F9
5 serine-type endopeptidase activity GO:0004252 9.02 F11 F2 F3 F7 F9

Sources for Hemophilia a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....