Hemophilia
What is coagulation factor VIII deficiency? Everything about the different causes, symptoms, and the most effective treatments for hemophilia.
Symptoms and Causes
Hemophilia is a congenital disorder in which the blood does not clot normally due to a deficiency in one of the proteins responsible for thickening it. As a result, those affected suffer from pathological bleeding, meaning it lasts longer than usual and is difficult to control.
Depending on its origin, hemophilia is classified into three types:
- Hemophilia A: the most common type, caused by a deficiency of coagulation factor VIII.
- Hemophilia B or Christmas disease: caused by a deficiency of coagulation factor IX.
- Hemophilia C or Rosenthal syndrome: caused by a deficiency of coagulation factor XI.
Severe forms of hemophilia can lead to internal bleeding that is difficult to detect and control. These episodes mainly affect the joints or muscles, especially in the knees, elbows, ankles, and the muscles of the arms, legs, and hips. If left untreated, they can become life-threatening.
Symptoms
The main symptoms of hemophilia include:
- Excessive bleeding after surgery or injury.
- Easy bruising.
- Joint swelling.
- Hematuria or hematochezia (blood in the urine or stool, respectively).
- Recurrent nosebleeds.
In severe hemophilia, cerebral bleeding may occur, leading to headaches, vomiting, or double vision.
Causes
Hemophilia is caused by a genetic mutation that reduces the production of clotting factor proteins. This mutation affects genes on the X chromosome. Since males have only one copy of this genetic material, they develop the disease if they inherit a chromosome with this mutation. Women, who have two copies, can be carriers if one of them is affected (they may have no symptoms or only mild ones). For a woman to develop hemophilia, which is rare, both genes must be affected or she must carry one mutated gene and have the other one inactive.
Although it can be passed down from parents to children, hemophilia is not always hereditary. It may also be caused by an autoimmune disorder, pregnancy, multiple sclerosis, or the use of certain medications. In such cases, it is referred to as acquired hemophilia.
Risk Factors
The main factors that increase the likelihood of developing hemophilia include:
- Being male.
- Having a family history of the condition.
- Having a mother who is a carrier.
Complications
The most serious complication of hemophilia is death due to uncontrolled bleeding. In milder cases, it can lead to:
- Numbness in the joints, as inflammation caused by excessive bleeding may compress the nerves.
- Joint problems such as arthritis.
- Breathing difficulties if there is excessive blood flow in the throat.
Prevention
There is no way to prevent hemophilia.
Genetic testing is recommended for individuals with a family history of the disease who are planning to have children.
What specialist treats hemophilia?
Hemophilia is studied, diagnosed, and treated by geneticists and hematologists.
Diagnosis
Hemophilia can be diagnosed with a coagulation factor test. In addition to confirming its presence, this test can determine the severity of the disease.
Genetic testing is also available to identify carriers in individuals with a family history of hemophilia. These tests are usually performed when planning for children.
Treatment
Although there is no cure for hemophilia—since the genetic alteration cannot be corrected—there are several treatments available to alleviate its effects. The most common include:
- Replacement therapy with the missing clotting factor to help the blood behave normally. This can be done by injecting lab-produced concentrates made from donated blood plasma or administering drugs that fulfill the same function.
- Oral medication to stimulate the production of clotting factor, prevent excessive bleeding, or promote wound healing.
- Physical therapy to reduce inflammation and relieve joint or muscle pain.
