Diseases

Hemophilia

Blood or immune disease

Hemophilia is a rare hereditary blood disease, in which the blood doesn’t clot enough and bleedings persist longed than normal. In this condition, there is a shortage of one of the blood clotting factors, which are necessary for proper blood clotting. Patients should therefore be protected from injuries as much as possible.


Cause

Hemophilia is caused by a defect in the genetic material. As a result, too little blood clotting factor is produced in the body. The defect is transferred according to an X-linked (associated with the X chromosome) recessive inheritance pattern. This means that women, who carry the disease with them, can pass this onto their sons, but not onto their daughters. Women who carry the disease with them may have mild symptoms. Serious symptoms occur only in men. The defect can also arise spontaneously around conception. So the disease can also occur in a child with parents who don’t have the disease and aren’t carrier.


Symptoms

There are two types of hemophilia. In case of hemophilia A, the patient has insufficient factor VIII. When there is too little factor IX, it’s called hemophilia B. The signs and symptoms of hemophilia are:

The severity of the symptoms depends on the severity of the hemophilia:


Diagnosis

The diagnosis of hemophilia is made based on the symptoms and physical examination. To confirm the diagnosis, blood tests and genetic examination are done. In doing so, the blood clotting factors VIII and IX are examined. Hemophilia can also be determined prior to birth with prenatal diagnosis. In babies with parents who have the disease or carry it with them, blood is taken immediately after birth for examination.


Treatment

Patients with hemophilia are treated in a hemophilia treatment center. In mild and moderate forms of hemophilia, patients are mainly treated when there seems to be a bleeding or an increased risk of it. Patients with severe hemophilia are preventively treated by regularly administering additional blood clotting factor VIII or IX (substitution therapy or replacement therapy). The blood clotting factor is then given several times a week via an infusion. Patients and their relatives can learn how to do this for themselves at home. The substitution therapy aims to prevent problems.

In addition to the substitution therapy, a patient may be treated with medication. The choice and dosage of these drugs will depend on the severity of the condition. Also desmopressin may be given. This is a hormone that stimulates the release of blood clotting factor IX, stored in the body. Antifibrinolytic drugs may also be given to stop bleeding faster.


Prognosis

Hemophilia is hereditary and can therefore hardly be prevented. People who have the condition in the family and who are considering having children, can be offered genetic counselling. With timely and proper treatment and care, hemophilia patients have a normal life expectancy. Patients with severe hemophilia have the greatest burden of the disease. They often have spontaneous bleeding in muscles and/or joints. This eventually leads to serious joint damage and disability.


Considerations


Facts

Hemophilia A is most common (80%).


Synonyms

Haemophilia


See also

Cerebral Hemorrhage

Hepatitis

Blood Test

DNA Test

Prenatal Diagnosis

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