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Encyclopedia > Haemophilia A
Haemophilia A
Classification and external resources
ICD-10 D66.
ICD-9 286.0
OMIM 306700
DiseasesDB 5555
eMedicine emerg/239 
MeSH D006467

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. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // C00-D48 - Neoplasms (C00-C14) Malignant neoplasms, lip, oral cavity and pharynx (C00) Malignant neoplasm of lip (C01) Malignant neoplasm of base of tongue (C02) Malignant neoplasm of other and unspecified parts of tongue (C03) Malignant neoplasm of gum (C04) Malignant neoplasm of floor of mouth (C05) Malignant neoplasm of... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... For other uses, see Blood (disambiguation). ... This article is about the clotting of blood. ... Factor VIII (FVIII) is an essential clotting factor. ... Haemophilia or hemophilia is the name of any of several hereditary genetic illnesses that impair the bodys ability to control bleeding. ... Sex-linked genes are those carried on the mammalian X chromosome but not the Y chromosome. ... Individuals in the mollusk species Donax variabilis show diverse coloration and patterning in their phenotypes. ...

Contents

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. For other uses, see Joint (disambiguation). ... For other uses of Muscles, see Muscles (disambiguation). ... For the Physics term GUT, please refer to Grand unification theory The gastrointestinal or digestive tract, also referred to as the GI tract or the alimentary canal or the gut, is the system of organs within multicellular animals which takes in food, digests it to extract energy and nutrients, and... For other uses, see Brain (disambiguation). ... For other uses, see Bleeding (disambiguation). ...


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 partial thromboplastin time (PTT) or activated partial thromboplastin time (aPTT or APTT) is a performance indicator measuring the efficacy of both the intrinsic and the common coagulation pathways. ... The prothrombin time (PT) and its derived measures of prothrombin ratio (PR) and international normalized ratio (INR) are measures of the extrinsic pathway of coagulation. ... Bleeding time is a medical test done on someone to assess their platelet function. ... In medicine, a family history consists of information about disorders that a patients direct blood relatives have suffered from. ... Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a persons ancestry. ...


The most important differential diagnosis is that of hemophilia B (also known as Christmas 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. This article does not cite any references or sources. ... Haemophilia B (also spelled Hemophilia B or Hæmophilia B) is a blood clotting disorder caused by a mutation of the Factor IX gene. ...


A very small minority of patients have antibodies against factor VIII that impair its functioning. Management of these patients is more complicated (see below). Wikipedia does not yet have an article with this exact name. ...


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. An intravenous drip in a hospital Intravenous therapy or IV therapy is the administration of liquid substances directly into a vein. ... Recombinant proteins are proteins that are produced by different genetically modified organisms following insertion of the relevant DNA into their genome. ... Port-a-Cath device. ... Prophylaxis refers to any medical or public health procedure whose purpose is to prevent, rather than treat or cure, disease. ... An infusion is a beverage made by steeping a flavoring substance in hot or boiling water. ... An intravenous drip in a hospital Intravenous therapy or IV therapy is the administration of liquid substances directly into a vein. ...


Some may manage on desmopressin, if the clotting factor is still partially active. Desmopressin (DDAVP®, Stimate®, Minirin®) is a synthetic drug that mimics the action of antidiuretic hormone, also known as arginine vasopressin. ...


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. 2007 is a common year starting on Monday of the Gregorian calendar. ... Factor VII (formerly known as proconvertin) is one of the central proteins in the coagulation cascade. ...


See also

Haemophilia (also spelled as hemophilia, from the Greek haima blood and philia to love[1]) is a group of hereditary genetic disorders that impair the bodys ability to control blood clotting or coagulation. ... Haemophilia B (also spelled Grus, Hemophilia B or Hæmophilia B) is a blood clotting disorder caused by a mutation of the Factor IX gene. ... A mild form of hemophilia that mainly occurs in Jews of Ashkenazi descent. ...

External links

  • Your genes your health
Leukopenia or leukocytopenia refers to a decrease in the number of circulating white blood cells (leukocytes) in the blood. ... Eosinophil granulocyte Basophil granulocyte Granulocytes are a category of white blood cells characterised by the presence of granules in their cytoplasm. ... Myeloid cells is a subsummating term for all hemopoietic cells except the lymphoid ones (T-cells, B-cells, NK-cells, dendritic cells). ... Leukocytosis is an elevation of the white blood cell count (the leukocyte count) above the normal range. ... In medicine, granulocytosis is the presence in peripheral blood of an increased number of granulocytes, a category of white blood cells. ... Neutrophilia (or neutrophil leukocytosis) is a condition where a person has a high number of neutrophil granulocytes in their blood. ... Eosinophilia is the state of having high eosinophil granulocytes in the blood. ... Leukopenia or leukocytopenia refers to a decrease in the number of circulating white blood cells (leukocytes) in the blood. ... Agranulocytosis (literally meaning an increase of agranulocytes or more commonly, a lack of granulocytes) is an acute condition involving a severe and dangerous leukopenia (reduction in the number of white blood cells) in the body. ... Neutropenia (or neutropaenia, adjective neutrop(a)enic) is a hematological disorder characterized by an abnormally low number of neutrophil granulocytes (a type of white blood cell). ... Kostmann syndrome is a rare inherited form of neutropenia usually detected soon after birth. ... Myeloid cells is a subsummating term for all hemopoietic cells except the lymphoid ones (T-cells, B-cells, NK-cells, dendritic cells). ... Chronic granulomatous disease (CGD) is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds (most importantly, the superoxide radical) used to kill certain ingested pathogens. ... A scanning electron microscope (SEM) image of a single human lymphocyte. ... Leukocytosis is an elevation of the white blood cell count (the leukocyte count) above the normal range. ... Lymphocytosis is an increase in the number of lymphocytes in the blood. ... Leukopenia or leukocytopenia refers to a decrease in the number of circulating white blood cells (leukocytes) in the blood. ... Lymphopenia is the condition in which there exists an abnormally low number of lymphocytes in the blood. ... Asplenia refers to the absence (a-) of normal spleen function and is associated with some risks. ... Methemoglobinemia, also known as met-Hb, is a disorder characterized by the presence of a higher than normal level of methemoglobin in the blood. ... Pancytopenia is a medical condition in which there is a reduction in the number of red and white blood cells, as well as platelets. ...

  Results from FactBites:
 
Haemophilia (545 words)
Haemophilia is a rare blood disorder caused by an inherited gene.
Haemophilia is a blood clotting disorder in which one of the essential clotting factors is deficient.
When the mother carries the haemophilia gene and the father is unaffected there will be a 50 per cent chance at each birth that their daughter may carry the haemophilia gene or that their son may have haemophilia.
NNHF - About Haemophilia (294 words)
Haemophilia is a congenital bleeding disorder that affects males.
Those with haemophilia B have similar problems with Factor IX (FIX).  Haemophilia is characterised as "severe" when the activity of the affected clotting factor (FVIII or FIX) is less than 1% of normal.
Haemophilia is termed "mild" when the relevant clotting factor activity is greater than 5%, but less than normal and "moderate" when clotting factor activity is between 1% and 5% of normal.  Approximately 50% of haemophilia patients have severe disease and can require treatment for bleeding several times per month.
  More results at FactBites »

 
 

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