Haemophilia (hereditary bleeding disorder)

General or Other | Hematology | Haemophilia (hereditary bleeding disorder) (Disease)


Description

Haemophilia is a rare blood disorder caused by an inherited gene. People with haemophilia lack one of the essential blood clotting factors. It is mainly a male disorder because the haemophilia gene is carried on the X chromosome. However it can occur in any family. People with haemophilia need special first aid for injured muscles or joints.

Characteristic symptoms vary with severity. In general symptoms are internal or external bleeding episodes, which are called bleeds. Patients with more severe haemophilia suffer more severe and more frequent bleeds, while patients with mild haemophilia usually suffer more minor symptoms except after surgery or serious trauma. Moderate haemophiliacs have variable symptoms which manifest along a spectrum between severe and mild forms.

Causes and Risk factors

Haemophilia lowers blood plasma clotting factor levels of the coagulation factors needed for a normal clotting process. Thus when a blood vessel is injured, a temporary scab does form, but the missing coagulation factors prevent fibrin formation, which is necessary to maintain the blood clot.

A haemophiliac does not bleed more intensely than a person without it, but can bleed for a much longer time. In severe haemophiliacs even a minor injury can result in blood loss lasting days or weeks, or even never healing completely. In areas such as the brain or inside joints, this can be fatal or permanently debilitating.

Diagnosis and Treatment

Infusions (injections) of blood products are needed to stop internal bleeding. These infusions replace the missing clotting factor. They can be administered by a hospital that has an accredited haemophilia centre. Alternately, many people with haemophilia are taught to inject themselves at home. ...