Glanzmann Thrombasthenia
Glanzmann Thrombasthenia is a rare inherited platelet function disorder that is caused by an abnormality in the genes for glycoproteins IIB/IIIa receptors. Because this receptor is missing or not working properly, platelets do not stick together at the site of an injury, preventing the blood to clot normally. Glanzmann Thrombasthenia is an autosomal recessive disorder, meaning both parents must be carriers of the abnormal gene and pass that abnormal gene on to their children. This condition occurs more frequently in areas of the world where marriage between close relatives is common, such as regions in the Middle East and India. Glanzmann Thrombasthenia affects males and females in equal numbers.
Symptoms of Glanzmann Thrombasthenia include easy bruising, nose and gum bleeds, heavy or prolonged menstrual bleeding (menorrhagia), hemorrhaging after childbirth, intermittent gastrointestinal bleeding, and severe bleeding following injury or surgical procedures. Signs of the disorder are usually first noticed in childhood.
Treatment is often necessary following an injury and during surgical procedures. Platelet transfusions, as well as infusions of a recombinant factor VIIa product, may be needed. Antifibrinolytic drugs may also be used. Iron replacement to address anemia caused by prolonged bleeds might be required. Hormonal contraceptives may be used to control excessive menstrual bleeding, however, cultural norms may prevent many women access to such treatment.
