Hereditary Thrombocythaemia 1 (THPO)
Autozomálně dominantní
Caused by gain-of-function changes in one copy of THPO, usually in the part of the gene that controls how efficiently the hormone is made. Excess thrombopoietin raises the platelet count.
Příznaky a projevy
A persistently high platelet count. Many people have no symptoms, while some develop blood clots or, less often, bleeding. Less often the spleen is enlarged.
Co se diagnózou změní
Management is guided by a haematologist and depends on the person's clotting risk. Each child of an affected person may inherit the change, so testing of relatives is recommended.
Analyzované geny
Známé také jako
THCYT1; THPO-related thrombocythemia
