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The Hemophilias

The Hemophilias

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A basic idea on Hemophilias and its types
A basic idea on Hemophilias and its types

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Published by: Vytheeshwaran Vedagiri on Jul 07, 2007
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05/08/2014

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The Hemophilias
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
recessively 
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.
 
Hemophilia Causes Bruising and Mild to Severe Bleeding
Hemophilia's main symptom is bleeding. Defects in blood coagulation factorsresult in low levels of fibrin, which impairs the body's ability to create strongblood clots.
Extensive bleeding and easy bruising are common hemophilia symptoms.
Contrary to popular belief, hemophilia does not make people bleed faster.
Instead, bleeding lasts for longer than ordinary, due to the body's inability toform a blood clot.Hemophilia symptoms may include:easy bruisingsudden bleedingbleeding into joints and musclesbleeding into the gastrointestinal tractbleeding into the urinary tractblood in stoolblood in urinelengthy bleeding after traumalengthy bleeding after surgery or dental workfrequent nose bleedsintracranial bleeding.
Levels of Hemophilia: Mild to Severe
Hemophilia symptoms may be mild, moderate, or severe, depending on theamount of clotting factors produced.
Mild hemophilia occurs when clotting factor levels fall between six to thirtypercent of normal levels.
People with moderate hemophilia have between one and five percent of normal clotting factor levels. Severe hemophilia cases have extremely lowlevels of clotting factors, amounting to less than one percent.

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