What is Hemophilia A?

Hemophilia is a condition that affects the ability of the blood to form clots in response to injury.

In a healthy person, a small cut or injury to the blood vessel leads to the release of substances in the blood known of as clotting factors.

These factors work together with blood cells and platelets to make the blood sticky, which eventually prevents bleeding.

In the case of hemophilia, however, there is a deficiency in these clotting factors in the blood, which means bleeding continues for longer than it should.

Hemophilia is an inherited condition that can be passed onto a child if one or both of their parents are affected.

Types of hemophilia

The two most common types of hemophilia are hemophilia A and hemophilia B, although most cases are hemophilia A. Also called factor VIII deficiency, hemophilia A is caused by a deficiency in factor VIII.

This clotting protein is produced by the liver and circulates in the blood bound to von Willebrand factor. Factor VIII acts in conjunction with active factor IX to activate factor X, which then works with its cofactor (factor Va) to activate thrombin.

Symptoms

The symptoms of hemophilia range from mild to severe depending on how deficient the clotting factors are. However, the majority of cases are severe and sufferers often experience internal bleeding.

Bleeding can occur around the joints and muscles leading to pain, stiffness and eventually joint damage. Females with hemophilia A may experience heavy bleeding during their periods as a symptom of the disease.

Diagnosis and treatment

Diagnosis is usually suspected based on blood tests that indicate poor coagulation. This is identified by an increased partial thromboplastin time in the context of a healthy prothrombin time and bleeding time. Diagnosis is confirmed if further blood testing reveals a very low level of factor VIII. Genetic testing is also now available to help determine whether a person is at risk of developing hemophilia or passing the condition on to any offspring.

Hemophilia cannot be cured but the condition can be managed with treatment to help a patient lead a normal quality of life. Over recent decades, genetically engineered clotting factor medications have been made available to help treat ongoing bleeding. This medication is administered as an injection which may be given only in response to bleeding in the case of mild hemophilia, or on a regular basis in the case of severe hemophilia.

Further Reading

Last Updated: Jun 19, 2023

Dr. Ananya Mandal

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.

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