Bleeding Disorder, Platelet-Type, 24
Autozomálně dominantní
Caused by a change in one copy of ITGB3, which encodes the β3 part of the αIIbβ3 platelet receptor. The changes behind this condition mostly switch the receptor on (gain of function), which changes platelet size and count; this differs from Glanzmann thrombasthenia, which is caused by defects in both copies.
Příznaky a projevy
A low platelet count with enlarged platelets is the main feature.
Co se diagnózou změní
Care is guided by a haematologist, with planning before surgery, dental work or childbirth; antifibrinolytic medicines or platelet transfusion may be used for bleeding. Children of an affected parent have a 1 in 2 chance of inheriting the change, so genetic counselling and family testing are offered.
Analyzované geny
Známé také jako
BDPLT24; bleeding disorder, platelet-type, 24, autosomal dominant; Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2; ITGB3-related thrombocytopenia
