hereditary xerocytosis

hereditary xerocytosis

(zer?o-si-to'sis) [ xero- + cyto- + -sis]
A disorder of erythrocytes usually inherited as an autosomal dominant trait. A membrane defect in the red blood cells permits the loss of excess potassium ions and water, causing dehydration of the cells. Hemolysis and anemia range from mild to severe.
Synonym: dessicocytosis See: xerocyte for illus
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Initially, SpringWorks will work on potential programs for four rare diseases, desmoid tumour, neurofibromatosis, hereditary xerocytosis and post-traumatic stress disorder, all of which have no treatment as of now.
While patients with thalassemia major need chronic blood transfusion, some of the patients with hereditary xerocytosis and stomatocytosis may be asymptomatic for a life time.
AoCOSMOS allows for the exploration, diagnosis and development of therapeutic interventions for several rare anaemias, including hereditary xerocytosis, overhydrated hereditary stomatocytosis, familial pseudohyperkaliemia, cryohydrocytosis, certain types of spherocytosis, hereditary spherocytosis, sickle cell anaemia, thalassemia and phosphofructokinase deficiency.

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