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.
Dehydrated stomatocytosis, also known as hereditary xerocytosis (HX, OMIM 194380), is the most frequent variant of hereditary stomatocytoses, a group of rare disorders characterized by a leak of monovalent cations ([Na.sup.+] and [K.sup.+]) from the red blood cells (RBCs) [1,2].
Houston et al., "Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis," Blood, vol.
Blesson et al., "Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops," Clinical Genetics, vol.
Andolfo et al., "Hereditary xerocytosis revisited," American Journal of Hematology, vol.
Frederiksen, "Hereditary xerocytosis and familial haemolysis due to mutation in the PIEZO1 gene: a simple diagnostic approach," International Journal of Laboratory Hematology, vol.
De la Hoz Rastrollo et al., "Hereditary xerocytosis, a misleading anemia," Annals of Hematology, vol.
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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