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Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis
Author(s) -
Yang Elizabeth,
Voelkel Erin B.,
LezonGeyda Kimberly,
Schulz Vincent P.,
Gallagher Patrick G.
Publication year - 2017
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26444
Subject(s) - dehydration , mean corpuscular hemoglobin concentration , hemoglobin , medicine , hemolysis , mean corpuscular hemoglobin , trait , endocrinology , genetics , immunology , biochemistry , mean corpuscular volume , chemistry , biology , computer science , programming language
A 17‐year‐old male presented with acute hemolysis with stomatocytosis, elevated mean corpuscular hemoglobin concentration (MCHC), and osmotic gradient ektacytometry consistent with marked erythrocyte dehydration. Erythrocytes from both parents also demonstrated evidence of dehydration with elevated MCHC and abnormal ektacytometry, but neither to the degree of the patient. Genetic studies revealed the patient had hereditary xerocytosis (HX) due to a novel PIEZO1 mutation inherited from his mother and hemoglobin C (HbC) trait inherited from his father. HbC trait accentuated the erythrocyte dehydration of HX. Coinheritance of interrelated disorders and/or modifier alleles should be considered whenever severe erythrocyte dehydration is observed.