Haemophilia A
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| Haemophilia A Classification and external resources | |
| ICD-10 | D66. |
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| ICD-9 | 286.0 |
| OMIM | 306700 |
| DiseasesDB | 5555 |
| eMedicine | emerg/239 |
| MeSH | D006467 |
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Ongoing Trials on Haemophilia A at Clinical Trials.gov Trial results on Haemophilia A Clinical Trials on Haemophilia A at Google
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US National Guidelines Clearinghouse on Haemophilia A NICE Guidance on Haemophilia A
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Haemophilia A (also spelled Hemophilia A or Hæmophilia A) is a blood clotting disorder caused by a mutation of the factor VIII gene, leading to a deficiency in Factor VIII. It is the most common hemophilia. Inheritance is X-linked recessive; hence, males are affected while females are carriers or very rarely display a mild phenotype. 1 in 5,000 males are affected.
Signs and symptoms
Hemophilia leads to a severely increased risk of bleeding from common injuries. The sites of bleeding are:
The muscle and joint hemorrhages are quite typical of hemophilia, while digestive tract and cerebral hemorrhages are also germane to other coagulation disorders.
Diagnosis
The diagnosis may be suspected as coagulation testing reveals an increased PTT in the context of a normal PT and bleeding time. The diagnosis is made in the presence of very low (<10 IU) levels of factor VIII. A family history is frequently present, although not essential. Recently, genetic testing has been made available to determine an individual's risk of attaining or passing on Haemophilia.
The most important differential diagnosis is that of hemophilia B (also known as Christmas disease) or von Willebrand disease. The former is usually considered if factor VIII levels are normal in a person with a haemophilia phenotype. The latter is excluded on routine testing for that condition.
A very small minority of patients has antibodies against factor VIII that impair its functioning. Management of these patients is more complicated (see below).
Therapy
Most haemophilia patients require regular supplementation with intravenous recombinant factor VIII. This is highly individually determined. Apart from "routine" supplementation, extra factor concentrate is given around surgical procedures and after trauma. In children, an easily accessible intravenous port (e.g. Port-a-Cath) may have to be inserted to minimise frequent traumatic intravenous cannulation. These devices have made prophylaxis in hemophilia much easier for families because the problems of "finding a vein" for infusion two to three times a week are eliminated. However, there are risks involved with their use, the most worrisome being that of infection. Studies differ but some show an infection rate as high as 50 percent. These infections can usually be treated with intravenous antibiotics but sometimes the device must be removed. Also, there are other studies that show a risk of clots forming at the tip of the catheter. Still, many families have chosen to use the device in spite of the risk because of the benefits. Like any other procedure, one must weigh the risks and benefits.
Some may manage on desmopressin, if the clotting factor is still partially active.
A particular therapeutic conundrum is the development of "inhibitor" antibodies against factor VIII due to frequent infusions. These probably develop as the body recognises the factor VIII as foreign, as the body does not have its own "copy". The problem is that in these patients, factor VIII infusions are ineffective. Recently activated factor VII (NovoSeven®) has become available as a treatment for haemorrhage in patients with haemophilia and factor inhibitors.
See also
External links
WikiDoc Research Resources for Haemophilia A | |
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| Articles on Haemophilia A | Most recent articles on Haemophilia A • Most cited articles on Haemophilia A • Review articles on Haemophilia A • Articles on Haemophilia A in N Eng J Med, Lancet, BMJ |
| Media (Slides, Video, Images, MP3) on Haemophilia A | Powerpoint slides on Haemophilia A • Images of Haemophilia A • Photos of Haemophilia A • Podcasts & MP3s on Haemophilia A • Videos on Haemophilia A |
| Evidence Based Medicine Regarding Haemophilia A | Cochrane Collaboration on Haemophilia A • Bandolier on Haemophilia A • TRIP on Haemophilia A |
| Cost Effectiveness of Haemophilia A | Cost Effectiveness of Haemophilia A |
| Clinical Trials Involving Haemophilia A | Ongoing Trials on Haemophilia A at Clinical Trials.gov • Trial results on Haemophilia A • Clinical Trials on Haemophilia A at Google |
| Guidelines / Policies / Government Resources (FDA/CDC) Regarding Haemophilia A | US National Guidelines Clearinghouse on Haemophilia A • NICE Guidance on Haemophilia A • NHS PRODIGY Guidance • FDA on Haemophilia A • CDC on Haemophilia A |
| Textbook Information on Haemophilia A | Books and Textbook Information on Haemophilia A |
| Pharmacology Resources on Haemophilia A | Dosing of Haemophilia A • Drug interactions with Haemophilia A • Side effects of Haemophilia A • Allergic reactions to Haemophilia A • Overdose information on Haemophilia A • Carcinogenicity information on Haemophilia A • Haemophilia A in pregnancy • Pharmacokinetics of Haemophilia A • |
| Genetics, Pharmacogenomics, and Proteinomics of Haemophilia A | Genetics of Haemophilia A • Pharmacogenomics of Haemophilia A • Proteomics of Haemophilia A |
| Newstories on Haemophilia A | Haemophilia A in the news • Be alerted to news on Haemophilia A • News trends on Haemophilia A |
| Commentary on Haemophilia A | Blogs on Haemophilia A |
| Patient Resources on Haemophilia A | Patient resources on Haemophilia A • Discussion groups on Haemophilia A • Patient Handouts on Haemophilia A • Directions to Hospitals Treating Haemophilia A • Risk calculators and risk factors for Haemophilia A |
| Healthcare Provider Resources on Haemophilia A | Symptoms of Haemophilia A • Causes & Risk Factors for Haemophilia A • Diagnostic studies for Haemophilia A • Treatment of Haemophilia A |
| Continuing Medical Education (CME) Programs on Haemophilia A | CME Programs on Haemophilia A |
| International Resources on Haemophilia A | Haemophilia A en Espanol • Haemophilia A en Francais |
| Business Resources on Haemophilia A | Haemophilia A in the Marketplace • Patents on Haemophilia A |
| Informatics Resources on Haemophilia A | List of terms related to Haemophilia A |
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
