Hemophilia is a blood disorder that prevents blood from clotting properly,leading to uncontrolled bleeding.
It is actually a collection of several different genetic disorders passed on byheredity.
The two most common types are hemophilia A and hemophilia B.
Hemophilia usually affects males.
Heredity and Hemophilia
The Hemophilias are genetic disorders caused by mutations to a singlerecessive gene on the X chromosome. Women with these types of geneticdisorders rarely develop hemophilia, but can pass the disorders on to theirsons.
Since hemophilia is an X-linked disease, the hereditary nature of the diseaseis a complicated issue.
Further, a wide variety of genetic disorders cause hemophilia, and manymutations are only found in specific heredity groups.
Types of Hemophilia
Two main varieties of hemophilia exist. Hemophilia A is responsible for eightypercent of all cases.
The genetic disorders responsible for hemophilia A result in low levels orabnormal production of the clotting protein factor VIII (FVIII). Hemophilia B,the second most common form of hemophilia, affects factor IX proteins (FIX)and accounts for almost twenty percent of hemophilia cases.
Other heredity-based hemophilia disorders may affect other blood clottingfactors, but they occur rarely.
The most common of these rare disorders, hemophilia C.
Hemophilia C affects factor XI proteins, and is unusual in that it affects bothmales and females.
Genetics of Hemophilia: Defects in Clotting Factor Production
Hemophilia is a genetic disease: mutations on the X chromosome result in lowlevels of blood clotting factors VIII or IX.
The mutations that cause low levels of clotting factor are carried
on the X chromosome.
As women have two X chromosomes (XX), the mutated gene would have tobe present on both chromosomes to cause the disease, and this isexceedingly rare.
Since men have only one X chromosome (XY), one copy of the mutatedhemophilia gene is enough to cause the disease, so males who inherit thegene will be affected.