Hereditary diseases or disorders are inherited because they are passed on from generation to generation via defective genes. Some genetic disorders could be mildly annoying but have no impact on overall health, like colorblindness, while other hereditary diseases are extremely life threatening. Hemophilia is one such disorder.
Hemophilia is a rare disorder that prevents the blood from clotting normally. The body lacks sufficient blood clotting proteins, and cuts and bruising can be life threatening as the body can't heal the injury.
The signs and symptoms of the disorder include excessive bleeding from cuts or injuries. Sustained bleeding after surgery or dental work is another sign. A person with hemophilia will typically have many large and deep bruises, and he/she might suffer unusual bleeding after being vaccinated. Joint pain and tightness is another sign and symptom.
Hemophilia is caused by a faulty gene that is carried on the X chromosome. It is a recessive gene, so a woman can be a carrier of the disorder without having any of the symptoms. This is because women have two X chromosomes, so a woman would have to inherit both versions of the defective gene. Men on the other hand only have one X chromosome, so they are much more likely to inherit the disease.
Diagnosis of the disease can be done via a simple blood test which will reveal the absence of clotting factors. The main treatment of hemophilia is to replace the missing clotting factor, and this is done intravenously. There are some clot preserving medications that can be used as well.
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