HEMA
MCID: HMP029
MIFTS: 70

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 58 77 25 54 60 76 13 56 41 74
Factor Viii Deficiency 25 54 60 76 74
Hemophilia, Classic 58 54
Factor 8 Deficiency 54 76
Classic Hemophilia 54 76
Hema 58 76
Symptomatic Form of Hemophilia a in Female Carriers 60
Moderately Severe Factor Viii Deficiency 60
Moderately Severe Hemophilia a 60
Severe Factor Viii Deficiency 60
Mild Factor Viii Deficiency 60
Hemophilia a, Congenital 54
Classical Hemophilia 54
Severe Hemophilia a 60
Hemophilia a, Mild 6
Mild Hemophilia a 60
Haemophilia a 54
Factor Viii 6
Hem a 54

Characteristics:

Orphanet epidemiological data:

60
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:

58
Miscellaneous:
persistent bleeding after trauma
partial factor viii deficiency in heterozygous carriers

Inheritance:
x-linked recessive


HPO:

33
hemophilia a:
Inheritance x-linked recessive inheritance


GeneReviews:

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

Classifications:



External Ids:

OMIM 58 306700
MeSH 45 D006467
MESH via Orphanet 46 D006467
ICD10 via Orphanet 35 D66
UMLS via Orphanet 75 C0019069 C0272322 C0272324 more

Summaries for Hemophilia a

NIH Rare Diseases : 54 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 v and factor viii, combined deficiency of, 2 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 Estradiol and Ethinyl Estradiol have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and bone, and related phenotypes are joint swelling and arthralgia

OMIM : 58 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 : 76 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 : 77 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 509)
# Related Disease Score Top Affiliating Genes
1 factor v and factor viii, combined deficiency of, 2 34.4 F5 F8
2 acquired hemophilia a 33.0 F11 F3 F5 F8 F9
3 factor viii deficiency 32.9 F11 F5 F8 VWF
4 hemophilia 32.5 F3 F7 F8 F9 VWF
5 von willebrand disease, type 2 31.5 F3 F7 F8 VWF
6 von willebrand disease, type 3 31.5 F11 F3 F8 VWF
7 von willebrand disease, type 1 31.4 F3 F8 VWF
8 hemophilia b 30.7 F10 F11 F3 F7 F8 F9
9 post-thrombotic syndrome 30.1 F5 F8
10 brachydactyly, type d 30.1 F8 VWF
11 purpura 30.0 F3 VWF
12 cardiac tamponade 30.0 F8 F9
13 fainting 29.9 F8 VWF
14 afibrinogenemia, congenital 29.8 F3 VWF
15 bernard-soulier syndrome 29.7 F8 VWF
16 lymphangiosarcoma 29.7 F8 VWF
17 arthropathy 29.7 F8 F9
18 thrombasthenia 29.7 F3 F5
19 thrombophlebitis 29.7 F5 F8
20 carotid artery occlusion 29.7 F5 F8
21 acquired von willebrand syndrome 29.6 F11 F8 F9 VWF
22 factor xi deficiency 29.6 F11 F3 F9
23 varicose veins 29.6 F5 VWF
24 disseminated intravascular coagulation 29.5 F3 F5 F7 F9
25 protein c deficiency 29.5 F5 F9
26 cerebrovascular disease 29.5 F5 F7 VWF
27 acquired hemophilia 29.5 F10 F11 F3 F5 F8 F9
28 thrombotic thrombocytopenic purpura 29.5 F3 VWF
29 factor xii deficiency 29.5 F3 F5 F9
30 pre-eclampsia 29.4 F3 F5 VWF
31 placenta disease 29.4 F3 F5
32 intracranial hypertension 29.4 F3 F5
33 hemolytic-uremic syndrome 29.4 F3 VWF
34 arteries, anomalies of 29.3 F3 VWF
35 portal vein thrombosis 29.3 F5 F7
36 von willebrand's disease 29.3 F11 F3 F5 F8 F9 VWF
37 hellp syndrome 29.3 F3 F5 VWF
38 antithrombin iii deficiency 29.2 F10 F5
39 budd-chiari syndrome 29.2 F3 F5 F7
40 vascular disease 29.2 F3 F5 VWF
41 intracranial thrombosis 29.0 F3 F5 F8 VWF
42 heart disease 28.9 F3 F7 F8 VWF
43 factor vii deficiency 28.9 F10 F3 F7 F8 F9
44 hemarthrosis 28.8 F10 F7 F8 F9 VWF
45 thrombophilia due to thrombin defect 28.8 F10 F3 F5 F8 VWF
46 stroke, ischemic 28.7 F3 F5 F7 VWF
47 antiphospholipid syndrome 28.6 F10 F3 F5 VWF
48 thrombophilia 28.3 F11 F3 F5 F8 F9 VWF
49 thrombosis 28.3 F10 F3 F5 F7 F8 F9
50 thrombophilia due to activated protein c resistance 28.2 F10 F3 F5 F8 F9 VWF

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:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint swelling 60 33 hallmark (90%) Very frequent (99-80%) HP:0001386
2 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
3 bleeding with minor or no trauma 60 33 hallmark (90%) Very frequent (99-80%) HP:0011889
4 reduced factor viii activity 60 33 hallmark (90%) Very frequent (99-80%) HP:0003125
5 thromboembolism 60 33 frequent (33%) Frequent (79-30%) HP:0001907
6 spontaneous hematomas 60 33 frequent (33%) Frequent (79-30%) HP:0007420
7 oral cavity bleeding 60 33 frequent (33%) Frequent (79-30%) HP:0030140
8 gastrointestinal hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002239
9 abnormality of the elbow 60 33 occasional (7.5%) Occasional (29-5%) HP:0009811
10 joint hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0005261
11 intramuscular hematoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0012233
12 intraventricular hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0030746
13 splenic rupture 60 33 very rare (1%) Very rare (<4-1%) HP:0012223
14 osteoarthritis 33 HP:0002758
15 bruising susceptibility 33 HP:0000978
16 intracranial hemorrhage 60 Very rare (<4-1%)
17 prolonged partial thromboplastin time 33 HP:0003645
18 persistent bleeding after trauma 33 HP:0001934

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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 278)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-28-2 5757
2
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 57-63-6 5991
3
Drospirenone Approved Phase 4,Phase 1,Phase 2 67392-87-4 68873
4
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 28014-46-2
5
Levonorgestrel Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 797-63-7, 17489-40-6 13109
6
Copper Approved, Investigational Phase 4 7440-50-8 27099
7
Thrombin Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable
8
Anti-inhibitor coagulant complex Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9
rituximab Approved Phase 4,Phase 3,Phase 2 174722-31-7 10201696
10
tannic acid Approved Phase 4,Phase 3,Phase 1,Not Applicable 1401-55-4
11
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 1994-09-7, 94-09-7 2337
12
Tranexamic Acid Approved Phase 4,Not Applicable 1197-18-8 5526
13
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
14
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
15
Zidovudine Approved Phase 4,Phase 3,Phase 1,Not Applicable 30516-87-1 35370
16
Indinavir Approved Phase 4 150378-17-9 5362440
17
Didanosine Approved Phase 4 69655-05-6 50599
18
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
19
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
20
Ribavirin Approved Phase 4,Phase 1 36791-04-5 37542
21
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
22
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
23
Hyaluronic acid Approved, Vet_approved Phase 4,Not Applicable 9004-61-9 53477741
24
Norgestrel Approved Phase 4 6533-00-2 13109
25
Aminocaproic Acid Approved, Investigational Phase 4 60-32-2 564
26
Dalteparin Approved Phase 4,Phase 1 9005-49-6
27
Heparin Approved, Investigational Phase 4,Phase 1 9005-49-6 46507594 772
28
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3 53-03-2 5865
29 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
30 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
31 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
32 diuretics Phase 4,Phase 1,Phase 2
33 Mineralocorticoids Phase 4,Phase 1,Phase 2
34 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Micronutrients Phase 4,Not Applicable
36 Natriuretic Agents Phase 4,Phase 2,Phase 1
37 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Contraceptives, Oral, Combined Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
39 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Trace Elements Phase 4,Not Applicable
41 Mineralocorticoid Receptor Antagonists Phase 4,Phase 1,Phase 2
42 Contraceptives, Oral Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Drospirenone and ethinyl estradiol combination Phase 4
45 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46 Diuretics, Potassium Sparing Phase 4,Phase 1,Phase 2
47 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Nutrients Phase 4,Not Applicable
49 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
50 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 628)
# 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 A Clinical Phenotype Based Individualized Prophylaxis in Chinese Hemophilia A Children Unknown status NCT02999308 Phase 4
3 Comparison of Levonorgestrel Intrauterine System, Copper T Intrauterine Device and Oral Contraceptives on Life Quality Unknown status NCT01805817 Phase 4 YASMIN® (Drospirenone/Ethinyl Estradiol)
4 Efficacy and Cost Effectiveness of Pharmacokinetic Dosing in Haemophilia A Completed NCT02697370 Phase 4 Pharmacokinetic based dosage change
5 Prophylaxis Versus on Demand Treatment for Children With Hemophilia A Completed NCT01810666 Phase 4
6 Study Evaluating Safety And Efficacy Of Moroctocog Alfa (AF-CC) In Previously Treated Hemophilia A Patients Completed NCT00914459 Phase 4
7 Pharmacokinetic Study of ADVATE 3000 IU in Previously Treated Patients With Severe Hemophilia A Completed NCT00916032 Phase 4
8 PF-05208756, Moroctocog Alfa (AF-CC), Xyntha For Hemophilia A Completed NCT02492984 Phase 4 Intravenous infusions of Xyntha
9 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)
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 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
12 Study Evaluating ReFacto® in Hemophilia A Undergoing Major Surgery Completed NCT00092976 Phase 4 ReFacto
13 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
14 Dose-Response Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00289536 Phase 4
15 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
16 Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens Completed NCT00927667 Phase 4
17 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)
18 Canadian Hemophilia Prophylaxis Study Completed NCT01085344 Phase 4
19 Study of Safety And Efficacy Of ReFacto AF In Previously Untreated Hemophilia A Patients In The Usual Care Setting Completed NCT00950170 Phase 4
20 Survey of Inhibitors in Plasma-Product Exposed Toddlers Completed NCT01064284 Phase 4 PLASMA DERIVED Factor VIII;Recombinant FVIII
21 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
22 Research Study to Look at Side Effects During Regular Injection With Factor VIII Medicine Named Turoctocog Alfa for a 8 Weeks Period Completed NCT03449342 Phase 4 turoctocog alfa
23 China ADVATE PTP Study Completed NCT02170402 Phase 4
24 BAY14-2222 Prophylaxis and Joint Function Improvement (Adults) Completed NCT00586521 Phase 4 Kogenate (BAY14-2222)
25 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
26 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
27 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
28 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
29 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
30 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
31 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
32 Trial of NovoSeven® in Haemophilia - Joint Bleeds Completed NCT00108797 Phase 4 eptacog alfa (activated);Feiba VH
33 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)
34 Study of Voncento® in Subjects With Von Willebrand Disease Completed NCT02552576 Phase 4
35 Platelet Function And Aggregometry In Patients With Aortic Valve Stenosis Completed NCT00156520 Phase 4 aprotonin; epsilon aminocaproic acid
36 Safety and Efficacy of Benefix in Patients With Hemophilia B in Usual Care Settings in China Completed NCT02336178 Phase 4 Benefix
37 IMMUNINE Pre-Treatment Study Completed NCT01128881 Phase 4
38 Study Evaluating BeneFIX in Patients With Haemophilia B, Previously Treated With Plasma Derived Factor IX Completed NCT00749476 Phase 4
39 Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B Completed NCT00581126 Phase 4 Recombinant Factor IX Coagulation
40 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4 human coagulation Factor IX
41 A Comparison of Dermal Autograft to AlloDerm in Breast Reconstruction Completed NCT01561287 Phase 4
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 Coagulation Profile in Patients Undergoing Video Assisted Thorascopic Surgery (VATS) for Lung Cancer Completed NCT01741506 Phase 4 Dalteparin (Fragmin®)
44 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
45 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
46 Study of Emicizumab Prophylaxis in Participants With Hemophilia A With or Without 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 Optimizing the Use of Prophylaxis in Patients With Severe Haemophilia A Using PK Measurement (myPKFiT) Recruiting NCT03915080 Phase 4 Advate
50 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

Search NIH Clinical Center for Hemophilia a

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Hemophilia a

Anatomical Context for Hemophilia a

MalaCards organs/tissues related to Hemophilia a:

42
Liver, Testes, Bone, T Cells, Lung, Brain, Breast

Publications for Hemophilia a

Articles related to Hemophilia a:

(show top 50) (show all 2170)
# Title Authors Year
1
Acquired hemophilia A presenting as progressive intra-abdominal hemorrhage, muscle hemorrhage and hemothorax postpartum: A case report and literature review. ( 30651844 )
2019
2
Pregnancy-related acquired hemophilia A initially manifesting as pleural hemorrhage: A case report. ( 30653138 )
2019
3
Clinicopathological features of TAFRO syndrome complicated by acquired hemophilia A and development of cardiopulmonary arrest that were successfully treated with VA-ECMO and tocilizumab. ( 30680669 )
2019
4
Acquired Hemophilia A: A Case Report. ( 30727803 )
2019
5
Compartment syndrome of the forearm with life-threatening bleeding after fasciotomy as the presenting sign of postpartum acquired hemophilia A: a case report. ( 30864964 )
2019
6
Acquired hemophilia A associated with bullous pemphigoid and multiple myeloma: a case report. ( 30882350 )
2019
7
Acquired Hemophilia A Associated with Dipeptidyl Peptidase-4 Inhibitors for the Treatment of Type 2 Diabetes Mellitus: A Single-Center Case Series in Japan. ( 30927215 )
2019
8
Involvement of antifactor VIII autoantibodies specificity in the outcome of inhibitor eradication therapies in acquired hemophilia a patients. ( 30958453 )
2019
9
Pharyngeal obstruction due to hemorrhagic bullae in a patient with anti-BP180-type mucous membrane pemphigoid associated with acquired hemophilia A. ( 31062391 )
2019
10
A Successful Coronary Artery Bypass Operation with Intermittent Factor VIII Administration in a Hemophilia A Patient Who Was Admitted Due to Acute Myocardial Infarction: A Rare and Difficult Case ( 30468434 )
2019
11
Management of combined factor V and factor VIII deficiency in pregnancy. ( 29667457 )
2019
12
Deep Intronic Variant c.5999-277G>A of F8 Gene May Be a Hot-Spot Mutation for Mild Hemophilia A Patients Without Mutation in Exonic DNA. ( 31063249 )
2019
13
Outpatient minor oral surgery in patients with hemophilia: A case series of 23 patients. ( 31110621 )
2019
14
Assay challenges (and opportunities) with non-factor VIII therapies for Hemophilia A. ( 30513018 )
2019
15
Inhibitor development, safety and efficacy of Advate® among previously treated patients with hemophilia A in a postmarketing surveillance in Japan. ( 30604312 )
2019
16
The impact of GPIbα on platelet-targeted FVIII gene therapy in hemophilia A mice with pre-existing anti-FVIII immunity. ( 30609275 )
2019
17
Emicizumab (ACE910): Clinical background and laboratory assessment of hemophilia A. ( 30612605 )
2019
18
Novel therapies for hemophilia A - the role of the von Willebrand factor chaperone. ( 30652400 )
2019
19
Potential long-term treatment of hemophilia A by neonatal co-transplantation of cord blood-derived endothelial colony-forming cells and placental mesenchymal stromal cells. ( 30670078 )
2019
20
Reduced bone formation in males and increased bone resorption in females drive bone loss in hemophilia A mice. ( 30700417 )
2019
21
Gene-based FVIIa prophylaxis modulates the spontaneous bleeding phenotype of hemophilia A rats. ( 30705032 )
2019
22
Role of the factor VIII-binding capacity of endogenous von Willebrand factor on the development of factor VIII inhibitors in patients with severe hemophilia A. ( 30705098 )
2019
23
Relationship Between Single-Nucleotide Polymorphisms of Tumor Necrosis Factor Alpha, Interleukin-10, Factor II and Factor V with Risk of Inhibitor Development in Patients with Severe Hemophilia A. ( 30727925 )
2019
24
Analysis of long non-coding RNA expression in hemophilia A patients. ( 30758269 )
2019
25
Patient satisfaction and acceptability of an on-demand and on-prophylaxis device for factor VIII delivery in patients with hemophilia A. ( 30774319 )
2019
26
Strategies for individualized dosing of clotting factor concentrates and desmopressin in hemophilia A and B. ( 30817699 )
2019
27
Ultrasonography of Knee Joint in Hemophilia A: What the Eyes Cannot See. ( 30828163 )
2019
28
Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening. ( 30838796 )
2019
29
Reprogrammed CD4+ T Cells That Express FoxP3+ Control Inhibitory Antibody Formation in Hemophilia A Mice. ( 30842776 )
2019
30
External Jugular Vein Aneurysm in a Child With Hemophilia A. ( 30865127 )
2019
31
Atraumatic Spinal Epidural Hematoma as Initial Presentation of Hemophilia A in an Infant. ( 30870339 )
2019
32
Variation of rs3754689 at lactase gene and inhibitors in admixed Brazilian patients with hemophilia A. ( 30872367 )
2019
33
Strategies for Individualized Dosing of Clotting Factor Concentrates and Desmopressin in Hemophilia A and B. ( 30883513 )
2019
34
Successful treatment of refractory pancreatic hemorrhage and pseudoaneurysm related to chronic pancreatitis in a patient with severe-type hemophilia A: A case report. ( 30887682 )
2019
35
Healthcare costs among patients with hemophilia A treated with factor replacement or bypassing agents. ( 30888200 )
2019
36
Inflammatory and immune response genes: A genetic analysis of inhibitor development in Iranian hemophilia A patients. ( 30888230 )
2019
37
Impact of capacity-limited binding on recombinant factor VIII and von Willebrand factor pharmacokinetics in hemophilia A rats. ( 30924607 )
2019
38
Exploring the responsiveness of goal attainment scaling in relation to number of goals set in a sample of hemophilia-A patients. ( 30931491 )
2019
39
An update on the 'danger theory' in inhibitor development in hemophilia A. ( 30951401 )
2019
40
Restoration of FVIII expression by targeted gene insertion in the FVIII locus in hemophilia A patient-derived iPSCs. ( 30996250 )
2019
41
Adenovirus-associated antibodies in UK cohort of hemophilia patients: A seroprevalence study of the presence of adenovirus-associated virus vector-serotypes AAV5 and AAV8 neutralizing activity and antibodies in patients with hemophilia A. ( 31011710 )
2019
42
Severe haemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing. ( 31021037 )
2019
43
Infused factor VIII-expressing platelets or megakaryocytes as a novel therapeutic strategy for hemophilia A. ( 31036722 )
2019
44
Comparative pharmacokinetics of two extended half-life FVIII concentrates (Eloctate and Adynovate) in adolescents with hemophilia A: is there a difference? ( 31038793 )
2019
45
Health-related quality-of-life and treatment satisfaction of individuals with hemophilia A treated with turoctocog alfa pegol (N8-GP): a new recombinant extended half-life FVIII. ( 31040652 )
2019
46
Inhibitor development, safety, and efficacy of Advate® in previously untreated patients with hemophilia A in a postmarketing surveillance in Japan. ( 30043332 )
2019
47
Factor VIII cross-matches to the human proteome reduce the predicted inhibitor risk in missense mutation hemophilia A. ( 30266735 )
2019
48
Spinal Epidural Bleed in Hemophilia: A Rare Site of Bleeding With Complete Resolution With Nonsurgical Management. ( 30339651 )
2019
49
MPP1/p55 gene deletion in a hemophilia A patient with ectrodactyly and severe developmental defects. ( 30358901 )
2019
50
The evolving understanding of factor VIII binding sites and implications for the treatment of hemophilia A. ( 29866493 )
2019

Variations for Hemophilia a

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

76 (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 486)
# Gene Variation Type Significance SNP ID Assembly Location
1 F8 F8, EX26DEL deletion Pathogenic
2 F8 F8, EX1DEL deletion Pathogenic
3 F8 F8, EX22DEL deletion Pathogenic
4 F8 NM_000132.3(F8): c.6976C> T (p.Arg2326Ter) single nucleotide variant Pathogenic rs137852354 GRCh37 Chromosome X, 154065952: 154065952
5 F8 NM_000132.3(F8): c.6976C> T (p.Arg2326Ter) single nucleotide variant Pathogenic rs137852354 GRCh38 Chromosome X, 154837677: 154837677
6 F8 NM_000132.3(F8): c.6682C> T (p.Arg2228Ter) single nucleotide variant Pathogenic rs137852355 GRCh37 Chromosome X, 154090034: 154090034
7 F8 NM_000132.3(F8): c.6682C> T (p.Arg2228Ter) single nucleotide variant Pathogenic rs137852355 GRCh38 Chromosome X, 154861759: 154861759
8 F8 F8, EX26DEL deletion Pathogenic
9 F8 NM_000132.3(F8): c.6403C> T (p.Arg2135Ter) single nucleotide variant Pathogenic rs137852356 GRCh37 Chromosome X, 154124378: 154124378
10 F8 NM_000132.3(F8): c.6403C> T (p.Arg2135Ter) single nucleotide variant Pathogenic rs137852356 GRCh38 Chromosome X, 154896103: 154896103
11 F8 F8, EX6DEL deletion Pathogenic
12 F8 F8, EX14DEL deletion Pathogenic
13 F8 F8, EX24-25DEL deletion Pathogenic
14 F8 F8, EX23-25DEL deletion Pathogenic
15 F8 NM_000132.3(F8): c.6496C> T (p.Arg2166Ter) single nucleotide variant Pathogenic rs137852357 GRCh37 Chromosome X, 154091436: 154091436
16 F8 NM_000132.3(F8): c.6496C> T (p.Arg2166Ter) single nucleotide variant Pathogenic rs137852357 GRCh38 Chromosome X, 154863161: 154863161
17 F8 NM_000132.3(F8): c.601+1632G> A single nucleotide variant Pathogenic rs387906429 GRCh37 Chromosome X, 154219579: 154219579
18 F8 NM_000132.3(F8): c.601+1632G> A single nucleotide variant Pathogenic rs387906429 GRCh38 Chromosome X, 154991304: 154991304
19 F8 NM_000132.3(F8): c.6683G> A (p.Arg2228Gln) single nucleotide variant Pathogenic rs137852358 GRCh37 Chromosome X, 154090033: 154090033
20 F8 NM_000132.3(F8): c.6683G> A (p.Arg2228Gln) single nucleotide variant Pathogenic rs137852358 GRCh38 Chromosome X, 154861758: 154861758
21 F8 NM_000132.3(F8): c.872A> G (p.Glu291Gly) single nucleotide variant Pathogenic rs137852359 GRCh37 Chromosome X, 154197743: 154197743
22 F8 NM_000132.3(F8): c.872A> G (p.Glu291Gly) single nucleotide variant Pathogenic rs137852359 GRCh38 Chromosome X, 154969468: 154969468
23 F8 F8, EX2-3DEL deletion Pathogenic
24 F8 F8, EX3-13DEL deletion Pathogenic
25 F8 F8, EX4-25DEL deletion Pathogenic
26 F8 F8, EX7-14DEL deletion Pathogenic
27 F8 F8, EX26DEL deletion Pathogenic
28 F8 F8, LINE INS, EX14 insertion Pathogenic
29 F8 F8, EX15DEL deletion Pathogenic
30 F8 F8, 2-BP DEL, EX8 deletion Pathogenic
31 F8 NM_000132.3(F8): c.6977G> T (p.Arg2326Leu) single nucleotide variant Pathogenic rs137852360 GRCh37 Chromosome X, 154065951: 154065951
32 F8 NM_000132.3(F8): c.6977G> T (p.Arg2326Leu) single nucleotide variant Pathogenic rs137852360 GRCh38 Chromosome X, 154837676: 154837676
33 F8 NM_000132.3(F8): c.5879G> A (p.Arg1960Gln) single nucleotide variant Pathogenic rs28937294 GRCh37 Chromosome X, 154132300: 154132300
34 F8 NM_000132.3(F8): c.5879G> A (p.Arg1960Gln) single nucleotide variant Pathogenic rs28937294 GRCh38 Chromosome X, 154904025: 154904025
35 F8 NM_000132.3(F8): c.1172G> A (p.Arg391His) single nucleotide variant Pathogenic rs28935499 GRCh37 Chromosome X, 154194800: 154194800
36 F8 NM_000132.3(F8): c.1172G> A (p.Arg391His) single nucleotide variant Pathogenic rs28935499 GRCh38 Chromosome X, 154966525: 154966525
37 F8 NM_000132.3(F8): c.5113C> T (p.Gln1705Ter) single nucleotide variant Pathogenic rs137852361 GRCh37 Chromosome X, 154156952: 154156952
38 F8 NM_000132.3(F8): c.5113C> T (p.Gln1705Ter) single nucleotide variant Pathogenic rs137852361 GRCh38 Chromosome X, 154928677: 154928677
39 F8 F8, EX14DEL deletion Pathogenic
40 F8 NM_000132.3(F8): c.5122C> T (p.Arg1708Cys) single nucleotide variant Pathogenic rs111033613 GRCh37 Chromosome X, 154156943: 154156943
41 F8 NM_000132.3(F8): c.5122C> T (p.Arg1708Cys) single nucleotide variant Pathogenic rs111033613 GRCh38 Chromosome X, 154928668: 154928668
42 F8 NM_000132.3(F8): c.5096A> T (p.Tyr1699Phe) single nucleotide variant Pathogenic rs28935203 GRCh37 Chromosome X, 154156969: 154156969
43 F8 NM_000132.3(F8): c.5096A> T (p.Tyr1699Phe) single nucleotide variant Pathogenic rs28935203 GRCh38 Chromosome X, 154928694: 154928694
44 F8 NM_000132.3(F8): c.5183A> G (p.Tyr1728Cys) single nucleotide variant Pathogenic rs137852362 GRCh37 Chromosome X, 154156882: 154156882
45 F8 NM_000132.3(F8): c.5183A> G (p.Tyr1728Cys) single nucleotide variant Pathogenic rs137852362 GRCh38 Chromosome X, 154928607: 154928607
46 F8 F8, EX11-18DEL deletion Pathogenic
47 F8 NM_000132.3(F8): c.5878C> T (p.Arg1960Ter) single nucleotide variant Pathogenic rs137852363 GRCh37 Chromosome X, 154132301: 154132301
48 F8 NM_000132.3(F8): c.5878C> T (p.Arg1960Ter) single nucleotide variant Pathogenic rs137852363 GRCh38 Chromosome X, 154904026: 154904026
49 F8 F8, EX3DEL deletion Pathogenic
50 F8 F8, EX1-5DEL 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
12.94 F10 F11 F3 F5 F7 F8
2
Show member pathways
12.42 F10 F11 F3 F5 F7 F8
3 11.7 F10 F11 F3 F5 F7 F8
4
Show member pathways
11.58 F10 F7 F9
5
Show member pathways
11.43 F10 F11 F3 F5 F7 F8
6 10.67 F10 F7 F9

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

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 F10 F11 F7 F9
2 ER to Golgi vesicle-mediated transport GO:0006888 9.72 F10 F5 F7 F8 F9
3 positive regulation of cell migration GO:0030335 9.65 F10 F3 F7
4 positive regulation of protein kinase B signaling GO:0051897 9.63 F10 F3 F7
5 platelet degranulation GO:0002576 9.61 F5 F8 VWF
6 blood coagulation GO:0007596 9.56 F10 F11 F3 F5 F7 F8
7 COPII vesicle coating GO:0048208 9.52 F5 F8
8 protein processing GO:0016485 9.51 F3 F7
9 blood coagulation, intrinsic pathway GO:0007597 9.46 F11 F8 F9 VWF
10 blood coagulation, extrinsic pathway GO:0007598 9.43 F10 F3 F7
11 positive regulation of positive chemotaxis GO:0050927 9.4 F3 F7
12 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.37 F3 F7
13 hemostasis GO:0007599 9.23 F10 F11 F3 F5 F7 F8

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 F10 F11 F7 F9
2 copper ion binding GO:0005507 9.26 F5 F8
3 serine-type peptidase activity GO:0008236 9.26 F10 F11 F7 F9
4 serine-type endopeptidase activity GO:0004252 9.02 F10 F11 F3 F7 F9

Sources for Hemophilia a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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