MCID: HMP007
MIFTS: 52

Hemophilia

Categories: Blood diseases, Genetic diseases, Immune diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Hemophilia

MalaCards integrated aliases for Hemophilia:

Name: Hemophilia 19 42 58 75 28 41 2 63 63 75
Haemophilia 42 75
Hemophilia, Hereditary 42
Hemophilia, Familial 42
Hemophilia, Nos 71
Hemophilia a 71

Characteristics:


Inheritance:

X-linked recessive 58

Prevelance:

1-9/100000 (China) 58

Age Of Onset:

Antenatal,Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

UMLS via Orphanet 72 C0684275
Orphanet 58 ORPHA448
UMLS 71 C0019069 C0684275

Summaries for Hemophilia

MedlinePlus: 41 What is hemophilia? Hemophilia is a rare bleeding disorder in which the blood does not clot properly. This can lead to problems with bleeding too much after an injury or surgery. You can also have sudden bleeding inside your body, such as in your joints, muscles, and organs. Your blood contains many proteins called clotting factors that can help form clots to stop bleeding. People with hemophilia have low levels of one of these factors, usually either factor VIII (8) or factor IX (9). How severe the hemophilia is depends on the amount of factor in the blood. The lower the amount of the factor, the more likely it is that bleeding could happen and might lead to serious health problems. What are the types of hemophilia? There are several different types of hemophilia. The most common are: Hemophilia A (classic hemophilia), which is caused by a lack or decrease of clotting factor VIII (8) Hemophilia B (Christmas disease), which is caused by a lack or decrease of clotting factor IX (9) What causes hemophilia? Most types of hemophilia are inherited. They are caused by change in one of the genes (also called a mutation) that provides instructions for making the clotting factor proteins. The change may mean that the clotting proteins don't work properly or that they are missing altogether. These genes are on the X chromosome. You may have one or two X chromosomes: People who are born male have one X chromosome (from the mother) and one Y chromosome (from the father). They can get hemophilia if their one X chromosome has the gene change. People who are born female have two X chromosomes, one from the father and one from the mother. They usually only get hemophilia if: Both X chromosomes have the gene change OR One X chromosome has the gene change and the other X chromosome is missing or inactive. People who are born female who have the gene change on one X chromosome are a "carrier" of hemophilia. Sometimes they may have some symptoms of hemophilia. They can pass the gene change on to their children. Hemophilia that is not inherited is called acquired hemophilia. It is rare. It happens when your body makes specialized proteins called autoantibodies that attack and disable a clotting factor. This can happen because of pregnancy, immune system disorders, cancer, or allergic reactions to certain medicines. Sometimes the cause is unknown. Who is at risk for hemophilia? Hemophilia is much more common in people who were born male since they can get it with a change to the gene on one X chromosome. People who have a family history of hemophilia are also at higher risk. What are the symptoms of hemophilia? The signs and symptoms of hemophilia are: Bleeding into the joints. This can cause swelling and pain or tightness in the joints. It often affects the knees, elbows, and ankles. Bleeding into the skin (which is bruising). Bleeding into the muscle and soft tissue, which can cause a build-up of blood in the area (called a hematoma). Bleeding of the mouth and gums, including bleeding that is hard to stop after you lose a tooth. Bleeding after circumcision. Bleeding after having shots, such as vaccinations. Bleeding in the head of an infant after a difficult delivery. Blood in the urine or stool. Frequent and hard-to-stop nosebleeds. In some cases, severe hemophilia may cause bleeding in the brain. This may cause brain damage and can be life-threatening. How is hemophilia diagnosed? To find out if you have hemophilia, your health care provider will: Ask about your medical history, including your symptoms and other health conditions you may have. Ask about your family history, to find out if you have relatives who have or had hemophilia. Do a physical exam to look for signs of hemophilia, such as bruising. Do certain blood tests to show if your blood is clotting properly. If it does not, then you will have clotting factor tests to diagnose the cause of the bleeding disorder. These blood tests would show the type of hemophilia and the severity. There is genetic testing for the factor VIII (8) and factor IX (9) genes. This testing may be used in people who have a family history of hemophilia to: Identify people who are carriers before they make decisions about pregnancy Test a fetus for hemophilia during pregnancy Test a newborn for hemophilia What are the treatments for hemophilia? The best way to treat hemophilia is to replace the missing clotting factor so that your blood can clot properly. This is usually done by injecting replacement clotting factor into a vein. The replacement clotting factor may be made from donated human blood. Or it may be made in a lab; this kind is called a recombinant clotting factor. Replacement clotting factor can help treat a bleeding episode. In more severe cases of hemophilia, you might get the factor on a regular basis to prevent bleeding. You can learn how to inject the factor so that you can do it yourself at home. There are other medicines to treat hemophilia. They may work by releasing factor VIII (8) from where it is stored in the body tissues, replacing the function of factor VIII (8), or preventing clots from breaking down. If bleeding has damaged your joints, physical therapy may help them function better. Good quality medical care from healthcare professionals who know a lot about the disorder can help prevent some serious problems. Often the best choice for care is to visit a hemophilia treatment center (HTC). Centers for Disease Control and Prevention

MalaCards based summary: Hemophilia, also known as haemophilia, is related to hemophilia b and factor viii deficiency, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Hemophilia is F8 (Coagulation Factor VIII), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Rituximab and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and whole blood.

MedlinePlus Genetics: 42 Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even when there is no obvious injury (sometimes called spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.The major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). Although the two types have very similar signs and symptoms, they are caused by variants (also known as mutations) in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty.

GARD: 19 Hemophilia is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. The major types of this disorder are Hemophilia A and Hemophilia B. Although the two types have very similar signs and symptoms, they are caused by genetic changes in different genes. People with an unusual form of Hemophilia B, known as Hemophilia B Leyden, experience episodes of excessive bleeding in childhood, but have few bleeding problems after puberty. Another form of the disorder, acquired Hemophilia, is not caused by inherited genetic changes.

PubMed Health : 63 Hemophilia: Hemophilia (heem-o-FILL-ee-ah) is a rare bleeding disorder in which the blood doesn't clot normally. If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed inside your body (internally), especially in your knees, ankles, and elbows. This bleeding can damage your organs and tissues and may be life threatening.

CDC: 2 Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly. People with hemophilia can live full lives and enjoy most of the activities that other people do. If you have hemophilia, or know someone who does, it's important to learn how to stay as healthy as possible.

Orphanet: 58 A rare hematological disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.

Wikipedia: 75 Haemophilia, or hemophilia (from Ancient Greek αἷμα (haîma) 'blood', and φιλία (philía) 'love of'), is a... more...

Related Diseases for Hemophilia

Diseases in the Hemophilia family:

Hemophilia a Hemophilia B
Acquired Hemophilia Acquired Hemophilia a
Acquired Hemophilia B

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

(show top 50) (show all 1060)
# Related Disease Score Top Affiliating Genes
1 hemophilia b 32.3 VWF F9 F8 F2 F10
2 factor viii deficiency 32.1 VWF F9 F8 F2 F10
3 von willebrand's disease 32.0 VWF F9 F8 F2
4 von willebrand disease, type 2 31.7 VWF F8
5 von willebrand disease, type 1 31.7 VWF F8
6 von willebrand disease, type 3 31.7 VWF F8
7 factor xi deficiency 31.4 VWF F9 F8 F2 F10
8 hemarthrosis 31.1 VWF F9 F8 F2 F10
9 hemophilia a 30.7 VWF LOC106146152 LOC106146151 LOC106146150 LOC106146143 F9
10 purpura 30.6 VWF F2
11 compartment syndrome 30.6 F9 F8 F2
12 qualitative platelet defect 30.6 VWF F2
13 vitamin k deficiency bleeding 30.5 F9 F8 F2
14 thrombocytopenic purpura, autoimmune 30.5 F8 F2
15 hemorrhagic disease 30.2 VWF F9 F8 F2 F10
16 peptic ulcer disease 30.1 VWF F2
17 factor vii deficiency 30.1 F9 F8 F2 F10
18 factor xii deficiency 30.1 VWF F9 F2
19 aortic valve insufficiency 30.0 VWF F2
20 active peptic ulcer disease 30.0 VWF F2
21 thrombotic thrombocytopenic purpura 30.0 VWF F8
22 prothrombin deficiency, congenital 30.0 F2 F10
23 thrombosis 29.9 VWF F9 F8 F2 F10
24 intracranial hypertension 29.9 F9 F2
25 thrombocytopenia 29.9 VWF F9 F8 F2 F10
26 thrombophilia due to thrombin defect 29.9 VWF F9 F8 F2 F10
27 carotid artery thrombosis 29.9 VWF F10
28 disseminated intravascular coagulation 29.9 VWF F9 F2 F10
29 blood platelet disease 29.8 VWF F8 F2 F10
30 cardiac tamponade 29.8 F9 F8 F2
31 arteriovenous malformation 29.8 VWF F2
32 acquired von willebrand syndrome 29.8 VWF F8 F2
33 thrombophlebitis 29.8 VWF F8 F2
34 acute myocardial infarction 29.8 VWF F2 F10
35 transient cerebral ischemia 29.8 VWF F2
36 stroke, ischemic 29.7 VWF F9 F2 F10
37 chronic venous insufficiency 29.7 VWF F2
38 venous insufficiency 29.7 VWF F2
39 portal vein thrombosis 29.7 VWF F8 F2
40 atrial fibrillation 29.7 VWF F9 F2 F10
41 glanzmann thrombasthenia 1 29.6 VWF F9 F8 F10
42 thrombophilia 29.6 VWF F9 F8 F2 F10
43 pulmonary embolism 29.6 VWF F9 F8 F2 F10
44 infective endocarditis 29.6 VWF F2
45 hypothyroidism 29.6 VWF F8 F2
46 prothrombin deficiency 29.5 F9 F8 F2 F10
47 myocardial infarction 29.5 VWF F9 F8 F2 F10
48 factor v deficiency 29.5 VWF F9 F8 F2 F10
49 antiphospholipid syndrome 29.5 VWF F2 F10
50 angiodysplasia 29.4 VWF F8 F2

Graphical network of the top 20 diseases related to Hemophilia:



Diseases related to Hemophilia

Symptoms & Phenotypes for Hemophilia

UMLS symptoms related to Hemophilia:


angina pectoris; chest pain; edema

Drugs & Therapeutics for Hemophilia

PubMed Health treatment related to Hemophilia: 63

The main treatment for hemophilia is called replacement therapy . Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein . These infusions help replace the clotting factor that's missing or low. Clotting factor concentrates can be made from human blood . The blood is treated to prevent the spread of diseases, such as hepatitis . With the current methods of screening and treating donated blood, the risk of getting an infectious disease from human clotting factors is very small. To further reduce the risk, you or your child can take clotting factor concentrates that aren't made from human blood . These are called recombinant clotting factors . Clotting factors are easy to store, mix, and use at home—it only takes about 15 minutes to receive the factor. You may have replacement therapy on a regular basis to prevent bleeding . This is called preventive or prophylactic (PRO-fih-lac-tik) therapy. Or, you may only need replacement therapy to stop bleeding when it occurs. This use of the treatment , on an as-needed basis, is called demand therapy. Demand therapy is less intensive and expensive than preventive therapy. However, there's a risk that bleeding will cause damage before you receive the demand therapy.

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

(show top 50) (show all 275)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rituximab Approved Phase 4 174722-31-7
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3
Anti-inhibitor coagulant complex Approved, Investigational Phase 4
4
Thrombin Approved, Investigational Phase 4
5
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
6
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
7
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
8
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
9
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
10
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4
11
Ribavirin Approved Phase 4 36791-04-5 37542
12
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
13
Zidovudine Approved Phase 4 30516-87-1 35370
14
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
15
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
16
Indinavir Approved Phase 4 150378-17-9 5362440
17
Didanosine Approved Phase 4 69655-05-6 50599
18
Tranexamic acid Approved Phase 4 1197-18-8 5526
19
Mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7 4240 441336
20
Arginine Approved, Investigational, Nutraceutical Phase 4 74-79-3 6322
21 Antirheumatic Agents Phase 4
22 Antineoplastic Agents, Immunological Phase 4
23 Antineoplastic Agents, Hormonal Phase 4
24 Hemostatics Phase 4
25
Triamcinolone hexacetonide Phase 4
26
Triamcinolone diacetate Phase 4
27
Triamcinolone Acetonide Phase 4 6436
28 Hylan Phase 4
29 Arginine Vasopressin Phase 4
30 Vasopressins Phase 4
31 Deamino Arginine Vasopressin Phase 4
32 Antiviral Agents Phase 4
33 Anti-Infective Agents Phase 4
34 Antimetabolites Phase 4
35 Reverse Transcriptase Inhibitors Phase 4
36 interferons Phase 4
37 Antifibrinolytic Agents Phase 4
38 Interferon-alpha Phase 4
39 Immunologic Factors Phase 4
40 Immunoglobulins, Intravenous Phase 4
41 Immunoglobulin Fc Fragments Phase 4
42 BAX 855 Phase 4
43
Phylloquinone Approved, Investigational Phase 3 84-80-0 5284607
44
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
45
Menadione Approved, Nutraceutical Phase 3 58-27-5 4055
46
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 68-26-8 5280382 445354
47 Menaquinone Investigational Phase 3 1182-68-9
48 Immunosuppressive Agents Phase 3
49 Alkylating Agents Phase 3
50 Antineoplastic Agents, Alkylating Phase 3

Interventional clinical trials:

(show top 50) (show all 763)
# Name Status NCT ID Phase Drugs
1 The Effectiveness of Recombinant Fusion Protein Linking Coagulation Factor IX With Recombinant Albumin (rIX-FP) in Severe Hemophilia B Patients Switching From Previous Factor IX Treatment Unknown status NCT04108260 Phase 4 Albutrepenonacog Alfa 1 UNT [IDELVION]
2 DDAVP vs Exercise in Patients With Mild Hemophilia A - Which is Better and do They Work Synergistically in Improving Hemostasis? Unknown status NCT03136003 Phase 4 DDAVP
3 Capital Characteristic Application: Pharmacokinetic(PK) Research on Chinese Children of Hemophilia Unknown status NCT03622476 Phase 4 concentrated FVIII
4 IMMUNE TOLERANCE INDUCTION, BY FACTOR VIII CONCENTRATE CONTAINING VON WILLEBRAND FACTOR, IN SEVERE OR MODERATE HAEMOPHILIA A PATIENTS WITH INHIBITORS Unknown status NCT02479087 Phase 4 Plasma-derived FVIII/VWF concentrate
5 Beijing Children's Hospital, Capital Medical University Unknown status NCT03598725 Phase 4 Coagulation Factor VIII;Prednisone;Rituximab
6 Hematology Oncology Center Unknown status NCT02999308 Phase 4
7 Subclinical Joint Bleeding in Irish Adults With Severe Haemophilia A on Personalised Prophylaxis Regimens Unknown status NCT02314325 Phase 4 ADVATE [Antihemophilic Factor (Recombinant)]
8 Routine Prophylaxis Treatment Versus On-demand Treatment for Children With Severe Hemophilia A: Comparison of All Bleeding Events in Chinese Hemophilia Patients Completed NCT01810666 Phase 4
9 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
10 A SINGLE COUNTRY, MULTICENTER, OPEN-LABEL AND NON-RANDOMIZED CLINICAL TRIAL WITH NONACOG ALFA PROPHYLAXIS AND TREATMENT OF BLEEDING EPISODES IN PREVIOUSLY TREATED PATIENTS WITH MODERATELY-SEVERE TO SEVERE HEMOPHILIA B FOR A DURATION OF 8 WEEKS. Completed NCT04286412 Phase 4
11 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
12 Reformulated BeneFIX Efficacy and Safety After Conversion From a pdFIX Completed NCT00749476 Phase 4
13 NovoSeven® (rFVIIa) by Single Dose for Home Treatment of Joint Bleeds in Haemophilia Patients With Inhibitors: A Pilot, Double-Blind Study Versus Standard Multiple Doses of NovoSeven® and Open-Label FEIBA® Completed NCT00108797 Phase 4 eptacog alfa (activated);Feiba VH
14 An Open-label, Single-arm, Post-authorization Pragmatic Clinical Trial On The Safety And Efficacy Of Benefix (Nonacog Alfa, Recombinant Factor Ix) In Subjects With Hemophilia B In Usual Care Settings In China Completed NCT02336178 Phase 4 Benefix
15 rFVIIa (NovoSeven®) for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors: A Double-blind Study of a Single High Dose Versus Standard Multiple Doses of rFVIIa Completed NCT00571584 Phase 4 activated recombinant human factor VII
16 Phase IV Multi-Center, Prospective, Interventional, Post-Marketing Study in Hemophilia B Patients in India Receiving RIXUBIS as On-demand or Prophylaxis Under Standard Clinical Practice Completed NCT03565237 Phase 4
17 Evaluation of Efficacy and Safety of Benefix®- Coagulation Factor ix, Recombinant, in Previously Treated Patients With Hemophilia b. Completed NCT00581126 Phase 4 Recombinant Factor IX Coagulation
18 Post Marketing Study in Haemophilia B Patients Using Nonafact® 100 IU/ml Powder and Solvent for Solution for Injection(Human Coagulation Factor IX)(Human Plasma Derived Factor IX Product, Freeze Dried) Completed NCT00139828 Phase 4 human coagulation Factor IX
19 IMMUNINE - Purified Factor IX Concentrate Virus-Inactivated: A Phase 4, Prospective, Open-label Multicenter Study to Prospectively Document the Exposure of IMMUNINE and to Monitor FIX Inhibitors in Previously Treated Patients With Severe (FIX Level < 1%) or Moderately Severe (FIX Level <= 2%) Hemophilia B Who Are Planned to Enter BAX 326 Study 250901 to Investigate a New Recombinant FIX Concentrate Completed NCT01128881 Phase 4
20 An Open-Label, Randomized, Parallel, Multicenter Trial Comparing the Safety and Efficacy of rFVIIa When Administered as i.v. Bolus or i.v. Continuous Infusion to Hemophiliacs With Inhibitors During and After Major Surgery Completed NCT01561391 Phase 4 activated recombinant human factor VII;factor VIII
21 Pharmacokinetic Comparison of Advate rAHF-PFM With Recombinate rAHF in Patients With Severe Hemophilia A: a Phase IV, Prospective, Randomized, Controlled, Cross-over, Single Center Study Completed NCT00666406 Phase 4 Antihemophilic Factor (Recombinant) - Plasma/Albumin Free Method (rAHF-PFM);Recombinant Factor VIII (rAHF)
22 A Prospective Study to Evaluate the Effect of rFVIII-FS in Different Prophylactic Regimens on Bleeding Events Frequency and Development of Arthropathy in Previously Treated and Minimally Treated Hemophilia A Pediatric Population. Completed NCT00632814 Phase 4 rFVIII-FS (Kogenate FS, BAY14-2222) 70 IU/kg, dosing once per week;rFVIII-FS (Kogenate FS, BAY14-2222), 70 IU/kg twice per week (30 IU/kg + 40 IU/kg);rFVIII-FS (Kogenate FS, BAY14-2222) 75 IU/kg, dosing three times per week (3 x 25 IU/kg)
23 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII
24 Post-marketing Investigation (PMI) to Assess Safety and Efficacy of Jivi (BAY 94-9027) Treatment in Participants With Hemophilia A Completed NCT04085458 Phase 4 Damoctocog alfa pegol (Jivi, BAY94-9027)
25 A Non-controlled, Open-Label, Multicenter, Study of Efficacy of rFVIIIFc for Immune Tolerance Induction (ITI) in Severe Hemophilia A Subjects With Inhibitors Undergoing the First ITI Treatment Completed NCT03093480 Phase 4
26 An Open Label Study to Evaluate the Safety and Effect on Sustained Virological Response of PEGASYS Plus Ribavirin in Patients With Hemophilia A and Chronic Hepatitis C Completed NCT00475072 Phase 4 peginterferon alfa-2a [Pegasys];ribavirin
27 A Phase IV Study of the Safety and Efficacy of ReFacto® (Moroctocog Alfa, B-Domain Deleted Recombinant Factor VIII) in Subjects With Hemophilia A Undergoing Major Surgery Monitored Using the Chromogenic Substrate Assay at the Local Laboratory Completed NCT00092976 Phase 4 ReFacto
28 Pharmacokinetic Comparison of 3000 IU Advate (rAHF-PFM) (Using One 3000 IU Potency Vial) With 3000 IU Advate (rAHF PFM) (Using Two 1500 IU Potency Vials) in Previously Treated Patients With Severe Hemophilia A: a Phase 4, Open-label, Prospective, Randomized, Controlled, Crossover, Multiple Center Study Completed NCT00916032 Phase 4
29 Moderate Term Musculoskeletal Outcomes With Escalating Dose Prophylaxis: the Canadian Hemophilia Prophylaxis Study Follow-up Study Completed NCT01085344 Phase 4
30 A Diagnostic Interventional, Controlled, Cross-sectional Evaluation of Joint Status Using Magnetic Resonance Imaging in Subjects With Severe Hemophilia A Treated With Primary Prophylaxis, Secondary Prophylaxis, or On-demand Therapy Completed NCT00927667 Phase 4
31 A Non-randomized, Open-label Study To Evaluate The Pharmacokinetics, Safety And Efficacy Of Refacto Af In Previously Treated Pediatric Subjects Less Than Twelve Years Of Age With Severe Hemophilia A (Fviii:c <1%). Completed NCT00914459 Phase 4
32 A Prospective Controlled Study on the Effect on Bleeding Events and Joint Function in Young Adults With Severe Hemophilia A After a 6 Month Prophylaxis Treatment Compared to on Demand Treatment Completed NCT00586521 Phase 4 Kogenate (BAY14-2222)
33 A Multiclinic, Open Pilot Study to Investigate the Effect of Combination Antiretroviral Therapy Including Indinavir Sulfate on Coagulation Factors, on Platelet Aggregation, and on Factor VIII/IX Half-Life in HIV-1 Seropositive Patients With Hemophilia A or B Completed NCT00002386 Phase 4 Indinavir sulfate;Lamivudine;Stavudine;Zidovudine;Zalcitabine;Didanosine
34 A SINGLE COUNTRY, MULTICENTER, OPEN-LABEL AND NON-RANDOMIZED CLINICAL TRIAL WITH MOROCTOCOG ALFA (AF-CC) PROPHYLAXIS AND TREATMENT OF BLEEDING EPISODES IN PREVIOUSLY TREATED PATIENTS WITH MODERATE AND SEVERE HEMOPHILIA A FOR A DURATION OF 8 WEEKS Completed NCT04396639 Phase 4
35 Exercise Versus DDAVP in Patients With Mild Hemophilia A - is One Non-inferior to the Other and do They Work Additively in Improving Hemostasis? Completed NCT03379974 Phase 4 DDAVP Inhalant Product
36 An Open-label, Single-arm, Post- Authorization Pragmatic Clinical Trial On The Safety And Efficacy Of Xyntha (Moroctocog-alfa (Af-cc), Recombinant Fviii) In Subjects With Hemophilia A In Usual Care Settings In China Completed NCT02492984 Phase 4 Intravenous infusions of Xyntha
37 Antihemophilic Factor (Recombinant) Plasma/Albumin-Free Method (rAHF PFM): A Phase 3/4, Prospective, Controlled, Randomized, Multi-Center Study to Compare the Efficacy and Safety of Continuous Infusion (CI) Versus Intermittent Bolus Infusion (BI) in Subjects With Severe or Moderately Severe Hemophilia A Undergoing Major Orthopedic Surgery Completed NCT00357656 Phase 4 Recombinant Protein-Free Factor VIII (rAHF-PFM)
38 Phase IV A Study of Immunologic Safety for Alphanate in Previously Treated Patients Diagnosed With Severe Hemophilia A Completed NCT00323856 Phase 4 Alphanate SD/HT
39 Advate Antihemophilic Factor (Recombinant), Plasma/Albumin-Free Method (ADVATE rAHF-PFM): A Phase 4 Study to Determine the Pharmacokinetic Response of Patients Diagnosed With Severe Hemophilia A to Different Doses of ADVATE rAHF-PFM Completed NCT00289536 Phase 4
40 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
41 Advate Antihemophilic Factor (Recombinant), Plasma/Albumin Free Method (ADVATE rAHF-PFM): A Phase 4 Study Comparing Two Prophylactic Regimens in Subjects With Severe or Moderately Severe Hemophilia A Completed NCT00243386 Phase 4 Antihemophilic factor, recombinant, manufactured protein-free
42 Study to Evaluate Efficacy and Safety of ADVATE in the Treatment of Previously Treated Patients With Hemophilia A Completed NCT02170402 Phase 4
43 Optimizing the Use of Prophylaxis in Patients With Severe Haemophilia A Using PK Measurement (myPKFiT) Completed NCT03915080 Phase 4 Oktokog alpha
44 A Non-Controlled, Open-Label, Multicenter, Study of Immune Tolerance Induction Performed With rFVIIIFc Within a Timeframe of 60 Weeks in Severe Haemophilia A Patients With Inhibitors Who Have Failed Previous Immune Tolerance Induction Therapies Completed NCT03103542 Phase 4
45 A Study on PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin) in Iranian Hemophilic Patients With Chronic Hepatitis C Infection Completed NCT00707772 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
46 AN OPEN-LABEL STUDY OF THE SAFETY AND EFFICACY OF REFACTO AF IN PREVIOUSLY UNTREATED PATIENTS IN USUAL CARE SETTINGS Completed NCT00950170 Phase 4
47 Clinical Outcomes of Low Dose Pharmacokinetic-guided Extended Half-life FVIII Concentrates Versus Low Dose Standard Prophylaxis in Thai Severe Haemophilia A Patients Completed NCT05281185 Phase 4 Extended half-life FVIII concentrates with PK-guided dosing;standard half-life FVIII concentrates with weight-based dosing
48 Inhibitor Development in Previously Untreated Patients (PUPs) or Minimally Blood Component-Treated Patients (MBCTPs) When Exposed to Plasma-derived Von Willebrand Factor-Containing Factor VIII (VWF/FVIII) Concentrates and to Recombinant Factor VIII (rFVIII) Concentrates: An Independent, International, Multicentre, Prospective, Controlled, Randomised, Open Label, Clinical Trial Completed NCT01064284 Phase 4 PLASMA DERIVED Factor VIII;Recombinant FVIII
49 Efficacy and Cost Effectiveness of Standard Versus Pharmacokinetic Dosing During Factor VIII Prophylaxis in Adult Patients With Severe Haemophilia A Completed NCT02697370 Phase 4 Pharmacokinetic based dosage change
50 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex (Humate-P®) Using Individualized Dosing in Pediatric and Adult Surgical Subjects With Von Willebrand's Disease. Completed NCT00168090 Phase 4 Blood coagulation Factor VIII and vWF, human

Search NIH Clinical Center for Hemophilia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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

Genetic Tests for Hemophilia

Genetic tests related to Hemophilia:

# Genetic test Affiliating Genes
1 Hemophilia 28

Anatomical Context for Hemophilia

Organs/tissues related to Hemophilia:

MalaCards : Brain, Liver, Whole Blood, Skin, Bone, Myeloid, Bone Marrow

Publications for Hemophilia

Articles related to Hemophilia:

(show top 50) (show all 21381)
# Title Authors PMID Year
1
Co-administration of FVIII with IVIG reduces immune response to FVIII in hemophilia A mice. 62 41
36418333 2022
2
Preimplantation genetic testing (PGT) for hemophilia A: Experience from one center. 62 41
36427965 2022
3
Modulating the microenvironment during FVIII uptake influences the nature of FVIII-peptides presented by antigen-presenting cells. 62 41
36389737 2022
4
Acquired Hemophilia in an Elderly Patient with Non-Small Cell Lung Cancer: a Case Report. 62
36466121 2023
5
Verification and Comparison of Chromogenic Factor VIII Activity Assays in Patients With Hemophilia Treated With and Without Emicizumab. 62
36045063 2023
6
Efficacy and safety in patients with haemophilia A switching to octocog alfa (BAY 81-8973): Final results of the global real-world study, TAURUS. 62
36192847 2023
7
Development of simple and rapid method for Emicizumab quantification by LC-MS/MS in human plasma. 62
36410129 2023
8
Researchers welcome $3.5-million haemophilia gene therapy - but questions remain. 62
36474054 2022
9
Acquired haemophilia in an Edo period Japanese surgical casebook. 62
36455605 2022
10
FDA approves first haemophilia B gene therapy. 62
36460866 2022
11
Haemophilia A and B - evaluation of the Swedish prophylactic regimen by magnetic resonance imaging. 62
36469433 2022
12
A rare occurrence of haemophilia A in a female due to compound heterozygosity of a de novo missense variant (presenting as pseudohomozygous) in F8 gene with Xq28 deletion inherited from mother. 62
35770705 2022
13
Oral tolerance to prevent anti-drug antibody formation in protein replacement therapies. 62
36402002 2022
14
Gene therapy preferences and informed decision-making: Results from a National Hemophilia Foundation Community Voices in research survey. 62
36469856 2022
15
Normal Neurodevelopment and Fertility in Juvenile Male Rats Exposed to Polyethylene Glycol Following Dosing With PEGylated rFIX (Nonacog Beta Pegol, N9-GP): Evidence from a 10-Week Repeat-Dose Toxicity Study. 62
36036386 2022
16
Regional empowerment through decentralised governance under a centralised regulatory system facilitates the development of cellular therapy in China. 62
36455609 2022
17
High Prevalence of Congenital Factor VII (FVII) Deficiency in Adolescent Females with Heavy Menstrual Bleeding and Iron Deficiency Anemia. 62
35917902 2022
18
Reproductive Tract Bleeding in Adolescent and Young Adult Females with Inherited Bleeding Disorders: An Underappreciated Problem. 62
35830928 2022
19
The future of radiosynoviorthesis: bright or bleak? 62
35708602 2022
20
Life-threatening bleeding in patients with hemophilia (PWH): a 10-year cohort study in Dakar, Senegal. 62
35306964 2022
21
Laying the foundations for gene therapy in Italy for patients with haemophilia A: A Delphi consensus study. 62
36469855 2022
22
Life-threatening chlorpromazine-induced acquired haemophilia A in a patient with a cavernous malformation involving the medulla oblongata. 62
36075795 2022
23
A patient with bullous pemphigoid presenting with haemorrhagic oral erosions, oral haematoma and haemoptysis. 62
36163633 2022
24
Patient blood management and patient safety. 62
36194140 2022
25
The value of radiosynoviorthesis for treatment of chronic synovitis in hemophilic joint disease. 62
36106913 2022
26
Recombinant factor VIII protein aggregation and adsorption at the liquid-solid interface. 62
35963169 2022
27
Radiosynoviorthesis: almost seventy years of experience but still somewhat fameless. 62
35708601 2022
28
Phenotypic variation in severe hemophilia A is related to endogenous thrombin potential and plasma levels of factor VII. 62
36409923 2022
29
Acute-type acquired hemophilia A after COVID-19 mRNA vaccine administration: A new disease entity? 62
36155279 2022
30
Economic Evaluation of Immune Tolerance Induction in Children With Severe Hemophilia A and High-Responding Inhibitors: A Cost-Effectiveness Analysis of Prophylaxis With Emicizumab. 62
36463835 2022
31
A high efficient FVIII variant corrects bleeding in hemophilia A mouse model. 62
35595575 2022
32
Real-world bleeding outcomes and product utilization in people with severe-type hemophilia A before and after switching to extended half-life rFVIIIFc prophylaxis therapy. 62
36463568 2022
33
Anti-FVIII antibodies in Black and White hemophilia A subjects: do F8 haplotypes play a role? 62
36459498 2022
34
Activated prothrombin complex concentrate to treat bleeding events in acquired hemophilia A: BAHAS study. 62
36029160 2022
35
Joint status and related risk factors in patients with severe hemophilia A: a single-center cross-sectional study. 62
34964431 2022
36
Utilization of emicizumab in acquired hemophilia A: A case report. 62
35643753 2022
37
Factor VIII and Factor IX Activity Measurements for Hemophilia Diagnosis and Related Treatments. 62
36473488 2022
38
Gene Therapy for Hemophilia—Opportunities and Risks. 62
36468250 2022
39
Management and outcomes of mild hemophiliacs and hemophilia carriers during pregnancy and peripartum period: a hemophilia treatment center experience in the United States. 62
35414333 2022
40
The effects of close kinetic chain exercises on proprioception and physical activity level in pediatric patients with hemophilia. 62
35921241 2022
41
Usefulness of anti-factor VIII IgG ELISA in acquired hemophilia A follow-up. 62
36125542 2022
42
[Assessment of the impact of pharmaceutical consultations at initiation of a treatment with emicizumab in patients with severe hemophilia A without inhibitors]. 62
35151626 2022
43
Efficacy, safety and pharmacokinetics of recombinant human coagulation factor VIII (omfiloctocog alfa) in previously treated Chinese children with severe hemophilia A. 62
35802040 2022
44
From a bispecific monoclonal antibody to gene therapy: A new era in the treatment of hemophilia A. 62
36413008 2022
45
Moroctocog Alfa (AF-CC) for Prophylaxis and Treatment of Bleeding Episodes in Previously Treated Patients with Hemophilia A in India. 62
36467512 2022
46
Association between sports participation, factor VIII levels and bleeding in hemophilia A. 62
36402130 2022
47
First conditional marketing authorization approval in the European Union for hemophilia "A" gene therapy. 62
36261044 2022
48
Safety and efficacy of long-term emicizumab prophylaxis in hemophilia A with factor VIII inhibitors: A phase 3b, multicenter, single-arm study (STASEY). 62
36397934 2022
49
A Novel Deletion Mutation of the F8 Gene for Hemophilia A. 62
36428936 2022
50
Hemophilia "A" gene therapy: Lost in translation. 62
36417911 2022

Variations for Hemophilia

Copy number variations for Hemophilia from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 259589 X 138440560 138473283 Deletion F9 Haemophilia
2 261006 X 153717257 153904192 Loss F8 Haemophilia

Expression for Hemophilia

Search GEO for disease gene expression data for Hemophilia.

Pathways for Hemophilia

Pathways related to Hemophilia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 VWF F9 F8 F2 F10
2
Show member pathways
12.33 F9 F8 F2 F10
3
Show member pathways
11.81 VWF F9 F8 F2 F10
4
Show member pathways
11.49 F9 F8 F2 F10
5 11.11 VWF F2
6
Show member pathways
10.95 F9 F2 F10
7
Show member pathways
9.88 F9 F8 F10

GO Terms for Hemophilia

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.76 F9 F8 F2 F10
2 Golgi lumen GO:0005796 9.56 F9 F8 F2 F10
3 serine-type endopeptidase complex GO:1905370 9.1 F9 F2 F10

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

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.85 VWF F9 F8 F2 F10
2 regulation of body fluid levels GO:0050878 9.26 F9 F8 F2 F10
3 hemostasis GO:0007599 9.1 VWF F9 F8 F2 F10

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

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.43 F9 F2 F10
2 serine-type peptidase activity GO:0008236 8.8 F9 F2 F10

Sources for Hemophilia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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