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GENATLAS PHENOTYPE

last update : 03-09-2019

Symbol	DHS2
Location	19q13.31
Name	dehydrated hereditary stomatocytosis 2
Other name(s)	hereditary xerocytosis
Corresponding gene	KCNN4
Main clinical features	red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility congenital hemolytic anemia due to a red blood cell permeability defect hematologic evaluation showed anemia, reticulocytosis, and increased mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC)
Genetic determination	autosomal dominant
Function/system disorder	hematology
Type	disease

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