Hemophilia

(Hemophilia A—Factor VIII Deficiency; Classic Hemophilia; Hemophilia B—Factor IX Deficiency; Christmas Disease)

Definition

Hemophilia is a group of bleeding disorders. It is caused by low amounts of specific clotting factors. These factors help to stop bleeding.The most common types of hemophilia are:
  • Hemophilia A (classic hemophilia)—accounts for 80% of all hemophilia (1 in 5,000 males), caused by too little factor VIII
  • Hemophilia B (Christmas disease)—occurs in 1 in 20,000 males, caused by too little factor IX

Causes

Hemophilia is caused by a faulty gene located on the X chromosome.Females carry two copies of the X chromosome. If the faulty gene is only on one X, the normal gene on the second X will take over. As a result, they will not get the disease. Instead, they are carriers of the gene. The risk for their male offspring to inherit the gene is 1 in 2 or 50%. The chance that their female offspring will inherit the gene is also 50%. These female offspring will be carriers like their mothers.It is possible for a female to have hemophilia. For this to happen she must inherit the faulty gene from both her mother and her father.Males carry only one X chromosome. If they get the faulty gene, the disease will develop.It is possible for a new genetic mutation to occur. This means a person can get hemophilia even if neither parent carries a genetic mutation.
Genetic Outcome Possibilities
Fetus Chromosomes
Copyright © Nucleus Medical Media, Inc.

Risk Factors

Hemophilia mostly occurs in men. Your chances of hemophilia are also increased if you have a family member with hemophilia.

Symptoms

Symptoms may vary depending on the severity of the disease. Bleeding is the main symptom, which is often brought on by injury or surgery. Hemophilia may go unnoticed until the infant becomes mobile. In severe cases, bruising occurs easily, and spontaneous bleeding into joints can cause joint pain. Symptoms in mild versions of hemophilia may not appear until later in life.Symptoms that can occur with hemophilia include:
  • Easy bruising
  • Severe nosebleeds
  • Blood in urine
  • Blood in stools
  • Heavy bleeding after minor cuts, bumps, dental work, or other trauma
  • Joint pain
  • Heavy menstrual bleeding in women who are carriers

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