Hereditary xerocytosis revisited
نویسندگان
چکیده
منابع مشابه
Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.
Mutations in PIEZO1 are the primary cause of hereditary xerocytosis, a clinically heterogeneous, dominantly inherited disorder of erythrocyte dehydration. We used next-generation sequencing-based techniques to identify PIEZO1 mutations in individuals from 9 kindreds referred with suspected hereditary xerocytosis (HX) and/or undiagnosed congenital hemolytic anemia. Mutations were primarily found...
متن کاملFamilial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis).
Familial pseudohyperkalemia is a "leaky red blood cell" condition in which the cells show a temperature-dependent loss of potassium (K) from red blood cells when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced lifespan in vivo but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at ...
متن کاملFragmentation and myelin formation in hereditary xerocytosis and other hemolytic anemias.
Erythrocytes from a heterogeneous group of hemolytic anemias have been found to release acetylcholinesterase-enriched fragments and show myelin forms during ATP depletion in vitro. The highest amount of fragmentation was found in hereditary spherocytosis and xerocytosis, two inherited membrane defects. Our data suggest ATP depletion plays a role in producing fragmentation or myelin forms. The a...
متن کاملMutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.
Hereditary xerocytosis (HX, MIM 194380) is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Copy number analyses, linkage studies, and exome sequencing were used to identify novel mutations affecting PIEZO1, encoded by the FAM38A gene, in 2 multigenerational HX kindreds. Segregation analyses confirmed transmission of the PIEZO1 mutations and cosegregation...
متن کاملMutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
Hereditary xerocytosis (HX; MIM 194380) is an autosomal-dominant hemolytic anemia characterized by primary erythrocyte dehydration. In many patients, heterozygous mutations associated with delayed channel inactivation have been identified in PIEZO1. This report describes patients from 2 well-phenotyped HX kindreds, including from one of the first HX kindreds described, who lack predicted hetero...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 2014
ISSN: 0361-8609
DOI: 10.1002/ajh.23799