Hemophilia is a rare genetic disorder that affects the body's ability to form blood clots, which can lead to prolonged bleeding and difficulty in stopping bleeding after an injury or surgery. There are two main types of hemophilia: hemophilia A, which is caused by a deficiency of clotting factor VIII, and hemophilia B, which is caused by a deficiency of clotting factor IX.
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Hemophilia is an X-linked recessive disorder, which means it is caused by a gene mutation on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome. If a male inherits the hemophilia gene mutation on his X chromosome, he will develop the disorder because he does not have another X chromosome to compensate for the mutation. However, females who inherit the hemophilia gene mutation on one X chromosome are typically carriers of the disorder, but they may not have any symptoms or only mild symptoms. In rare cases, females may also develop hemophilia if they inherit the hemophilia gene mutation on both X chromosomes.
The signs and symptoms of hemophilia can vary depending on the severity of the disorder. The following are 12 common signs and symptoms of hemophilia:
Excessive bleeding from cuts or injuries
Bruising easily
Prolonged bleeding after dental work or surgery
Nosebleeds that are difficult to stop
Bleeding into joints, causing pain and swelling
Blood in urine or stool
Frequent headaches or neck pain
Fatigue or weakness
Irritability or mood swings
Difficulty walking or standing due to joint pain
Frequent infections due to poor clotting
Delayed healing of wounds
If you or someone you know experiences any of these signs or symptoms, it is important to seek medical attention promptly. A diagnosis of hemophilia can be made through blood tests to measure clotting factor levels. Treatment for hemophilia typically involves replacement of the missing clotting factor through regular infusions of clotting factor concentrates or gene therapy in certain cases. Hemophilia patients also need to take special precautions to avoid bleeding, such as wearing protective gear during physical activities and avoiding medications that can increase the risk of bleeding.
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