Hereditary Stomatocytosis
Autoszomális domináns
A group of conditions in which red cells leak or gain water and salts, including dehydrated hereditary stomatocytosis (PIEZO1, KCNN4), overhydrated stomatocytosis (RHAG), Southeast Asian ovalocytosis and Rh-deficiency syndrome, causing haemolytic anaemia of varying severity and sometimes iron overload.
Mit változtat a diagnózis
Spleen removal should be avoided because it raises the risk of serious blood clots in these conditions.
Más néven
hereditary stomatocytic disease
Szintén szereplő specifikus formák
9 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- cryohydrocytosis
- dehydrated hereditary stomatocytosis
- dehydrated hereditary stomatocytosis 2
- dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
- familial pseudohyperkalemia
- hereditary cryohydrocytosis with reduced stomatin
- overhydrated hereditary stomatocytosis
- Rh deficiency syndrome
- southeast Asian ovalocytosis
