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Hemophilia: Description, Symptoms and Genetics

By Edited Nov 13, 2013 0 0

Overview

Hemophilia is an inherited genetic disorder that is most prevalent among men and causes an inability to form blood clots. This results in prolonged or unstoppable bleeding [external and internal], and in severe cases can be spontaneous. Hemophilia can be detected from a very early age and be treated accordingly. Less severe cases, however, may go unnoticed until a major injury or dental surgery. There are two common forms of hemophilia; hemophilia B [classic hemophilia] and hemophilia B [the Christmas disease]. They both have similar symptoms but the result of different gene mutations.

Symptoms

Prolonged bleeding or bruising of a scrape or cut

Resumed bleeding of a semi-healed cut

Frequent nosebleeds

Blood in urine [internal bleeding in kidneys or bladder] or stool [intestines or stomach]

Bleeding in joints without obvious injury

- Feeling of tightness but no pain

- Swelling

- Hot to touch

- Becomes painful

- Reduced or no movement

Brain bleed, even after a minor bump

- long-lasting and painful headaches

- Neck stiffness

- Repeated vomiting

- Sleepiness

- Change of behavior

- Sudden weakness

- Clumsiness, problems walking

- Double vision

- Convulsions and seizures

Types

Hemophilia A is the most common form and occurs in about 1 in 4000-5000 births.

Hemophilia B Is less common than A and occurs in about 1 in 20,000 births

A rare form is called hemophilia C and occurs in about 1 in 100,000 affecting both males and females

Acquired hemophilia makes up about 25% of all cases and is the result of spontaneous mutations.

Genetics

The problems in the body that result in hemophilia are mutations in the F8 and F9 genes. F8 is a gene that provides instruction for the creation of a clotting protein called coagulation factor VIII. F9 is a gene that produces a similar clotting protein called coagulation factor IX. The severity of the condition will depend on how much the production of these proteins is affected.

Hemophilia A and B are both inherited in an X-linked recessive pattern, which means that the mutated genes are part of the X chromosome. Since hemophilia is a recessive gene and males only have one X chromosome; that single faulty X chromosome will become apparent. Whereas women, having 2 X chromosomes, would need two similarly faulty genes in order for the disease to become apparent, otherwise the other X chromosome simply override the recessive hemophilia gene. A woman who is carrying a single hemophilia gene it is called a carrier, and will experience little or no effects of the disease. The female is statistically more likely to pass on the gene because a male only passes on the X chromosome if the child is a female.

Mother Carrier Hemophilia

Affected Father Hemophilia


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