What Is Hemophilia?

Why I'm writing this article?

In my family, my brother and uncle, is suffering from Hemophilia. It was interesting, most of the time when I'm speaking with people about Hemophilia, about 60-70% of them know nothing about it. This made me to write this article and explain briefly for you about all different subject of that,

What is Hemophilia?

Hemophilia is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. Hemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, present in about 1 in 5,000–10,000 male births. Hemophilia B (factor IX deficiency) occurs in around 1 in about 20,000–34,000 male births.

Why Hemophilia in Male is more than Female?

Like most recessive sex-linked, X chromosome disorders, Hemophilia is more likely to occur in males than females. This is because females have two X chromosomes while males have only one, so the defective gene is guaranteed to manifest in any male who carries it. Because females have two X chromosomes and Hemophilia is rare, the chance of a female having two defective copies of the gene is very remote, so females are almost exclusively asymptomatic carriers of the disorder. Female carriers can inherit the defective gene from either their mother or father, or it may be a new mutation. Although it is not impossible for a female to have Hemophilia, it is unusual: a female with Hemophilia A or B would have to be the daughter of both a male Hemophiliac and a female carrier, while the non-sex-linked Hemophilia C due to coagulant factor XI deficiency, which can affect either sex, is more common in Jews of Ashkenazi (east European) descent but rare in other population groups.

How is hemophilia distinguish?

If bleeding problems are observed or hemophilia is suspected, a physician will first look at family and personal medical histories. A doctor may be able to use this information to identify the genetic origins of hemophilia. A physical examination and blood tests are often ordered as well. Blood tests will provide information on how long it takes for blood to clot, levels of clotting factors, and which clotting factors, if any, are missing. Blood test results can identify the type of hemophilia and its severity. 

For pregnant women who are carriers of hemophilia, doctors are able to test the fetus for the condition as early as 10 weeks into pregnancy.

How is hemophilia treated?

Hemophilia is treated with replacement therapy, which is the giving or replacing of clotting factors that are too low or missing in a hemophilia patient. Patients receive clotting factors by injection or intravenously. 

Clotting factor treatments for replacement therapy can be derived from human blood or synthetically produced in a laboratory (called recombine clotting factors). Some patients will require replacement therapy regularly in order to prevent bleeding, while others may receive treatment only after bleeding begins and remains uncontrollable. The former is called prophylactic therapy and the latter is called demand therapy. Replacement therapies carry risks such as the possibility of developing antibodies, viral infections from human clotting factors, and damage to joints, muscles, and other body parts if treatment is delayed. 

Reference:

http://www.medicalnewstoday.com/articles/154880.php

http://en.wikipedia.org/wiki/Haemophilia

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