Haemophilia, Causes, SIgns and Symptoms, Diagnosis and Treatment.

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Chapters

0:00 Introduction
1:43 Causes of Haemophilia
2:50 Symptoms of Haemophilia
3:27 Diagnosis of Haemophilia
3:55 Treatment of Haemophilia





Haemophilia (also spelled hemophilia)[6] is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding.[2][3] This results in people bleeding for a longer time after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain.[1] Those with a mild case of the disease may have symptoms only after an accident or during surgery.[1] Bleeding into a joint can result in permanent damage while bleeding in the brain can result in long term headaches, seizures, or a decreased level of consciousness.[1]

There are two main types of haemophilia: haemophilia A, which occurs due to low amounts of clotting factor VIII, and haemophilia B, which occurs due to low levels of clotting factor IX.[2] They are typically inherited from one's parents through an X chromosome carrying a nonfunctional gene.[7] Rarely a new mutation may occur during early development or haemophilia may develop later in life due to antibodies forming against a clotting factor.[2][7] Other types include haemophilia C, which occurs due to low levels of factor XI, and parahaemophilia, which occurs due to low levels of factor V.[8][9] Acquired haemophilia is associated with cancers, autoimmune disorders, and pregnancy.[10][11] Diagnosis is by testing the blood for its ability to clot and its levels of clotting factors.[4]

Prevention may occur by removing an egg, fertilizing it, and testing the embryo before transferring it to the uterus.[4] Treatment is by replacing the missing blood clotting factors.[3] This may be done on a regular basis or during bleeding episodes.[3] Replacement may take place at home or in hospital.[12] The clotting factors are made either from human blood or by recombinant methods.[12] Up to 20% of people develop antibodies to the clotting factors which makes treatment more difficult.[3] The medication desmopressin may be used in those with mild haemophilia A.[12] Studies of gene therapy are in early human trials.[13]

Haemophilia A affects about 1 in 5,000–10,000, while haemophilia B affects about 1 in 40,000, males at birth.[2][5] As haemophilia A and B are both X-linked recessive disorders, females are rarely severely affected.[7] Some females with a nonfunctional gene on one of the X chromosomes may be mildly symptomatic.[7] Haemophilia C occurs equally in both sexes and is mostly found in Ashkenazi Jews.[5] In the 1800s haemophilia B was common within the royal families of Europe.[5] The difference between haemophilia A and B was determined in 1952.[5] The word is from the Greek haima αἷμα meaning blood and philia φιλία meaning love.[14]