Literature DB >> 28121068

Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis.

Elizabeth Yang1, Erin B Voelkel2, Kimberly Lezon-Geyda3, Vincent P Schulz3, Patrick G Gallagher3,4.   

Abstract

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.
© 2017 Wiley Periodicals, Inc.

Entities:  

Keywords:  dehydration; erythrocyte; genetic modifier; hemoglobin C; xerocytosis

Mesh：

Substances：

Year:  2017        PMID： 28121068      PMCID： PMC5858911          DOI： 10.1002/pbc.26444

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


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Review 2.  Disorders of erythrocyte hydration.

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