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Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
Dehydrated hereditary stomatocytosis 2
In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, 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. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by Rapetti-Mauss et al., 2015). For discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 (194380). [from OMIM]
Increased mean corpuscular hemoglobin concentration
An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). [from HPO]
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