Mandy Gaudreau
Bio 101 DATE \@ "MMMM d, y" October 6 2014
Hemophilia
Hemophilia is rare hereditary coagulation disorder due to deficiency or reduced activity of factor VIII or factor VIIII. Hemophilia word came from Greek language where haimo means blood and philia is affection. Hemophilia sometimes called royal disease as it affected the large number of royal males during 19th and 20th centuries. Queen Victoria believed to be the carrier of Hemophilia B which she passed to her off springs.
Hemophilia is x linked recessive disorder, female are carrier and males are sufferers, level of severity depends of clotting factor. Blood clotting factors XIII and IX are based in X chromosome which is responsible for the sex of the embryo. Accordingly, if there is a girl conceived by hemophiliac father than she will be the carrier by default. However hemophilia can be still occurred even if the both parents are not hemophilia carriers: the genetic mutation. There are two types of that disorder:
a. Hemophilia A (classical) occurs 1 in 10000 people
b. Hemophilia B (clotting factor VIIII) occurs 1 in 50000 people
Hemophilia is classified as severe, moderate and mild forms depending on the level of clotting factor:
Level Level of factor XIII /IX Hemorrhages
Severe Less than 1 % Several times in month. Cause: bump, twist, unknown
Moderate 1 to 5 % Less often
Cause: minor injury
Mild 5 to 30 % Few
Cause: patient is not aware , finds out during surgery, or tooth extract The main cause of hemophilia disorder is missing factors VIII and XI which help platelets to glue together and form fibrin clot to stop bleeding. There are number of factors (I, II, V, VII, VIII, IX, X, XI, XII, XIII and von Willebrand factor) work as domino to produce coagulation cascade. Deficiency of factors VIII and IX will cause chain reaction to break and prevent the clotting, or clotting happens at much slower pace than normal. The major signs of hemophilia are excessive bleeding and bruising easily. The level of bleeding depends of the Hemophilia type. Bleeding can be internal (in most cases) or external. According to Hemophilia Society the following symptoms of hemophilia:
Internal bleeding to joints (elbows, knees, wrists, etc.). After several hemorrhages the join will be damaged permanently.
Bleeding into soft tissues and muscles ( forearm, upper arm, buttocks, Est)
Bleeding in the mouth from tooth loss ( especially child), bitten tongue)
Bleeding into the brain (persistent headache, vomiting, change in behavior, development of the crossed eyes, lack of coordination, seizures)
Blood in the urine
Bruising
Hemophilia level and type can be diagnosed by blood sampling and measuring the level of clotting factor in the blood. In case of factor VIII protein deficiency then Hemophilia A is diagnosed, subsequently if factor IX deficient than Hemophilia type B is recognized. If mother is carrier of hemophilia then prenatal test (PND) such as invasive testing, if boy is conceived and Chorionic villus sampling (CVS) are available and covered by medical insurance. The basic treatment of hemophilia is to stop the bleeding and prevent it. The missing factor of the blood protein factors (I, II, V, VII, VIII, and IX, X, XI, XII, and XIII von Willebrand factor) will be injected into the patients’ blood stream until the necessary level is reached. There are two sources of concentrates: derived from human plasma and genetically engineered cell line made by DNA technology. To reduce the risk of the bleeding, patients will be given clotting factor concentrates, not made by human blood - recombinant clotting factors. This concentrate can be stored at home, easy to mix and use. Unfortunately the blood replacement is not permanent solution; half of clotting factor which was infused will be removed in 12- 24 hours, bringing back the blood inability to clot. The other complication include: developing