title: Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis.
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.
authors.affiliation: Department of Pediatrics, George Washington University School of Medicine, Washington, District of Columbia.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Inova Fairfax Hospital, Falls Church, Virginia.
authors.forename: Erin B
authors.initials: EB
authors.lastname: Voelkel
authors.affiliation: Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut.
authors.forename: Kimberly
authors.initials: K
authors.lastname: Lezon-Geyda
authors.affiliation: Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut.
authors.forename: Vincent P
authors.initials: VP
authors.lastname: Schulz
authors.affiliation: Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut.|Departments of Pathology and Genetics, University School of Medicine, New Haven, Connecticut.
authors.forename: Patrick G
authors.initials: PG
authors.lastname: Gallagher
mesh_terms: D000293:Adolescent; D000745:Anemia, Hemolytic, Congenital / Q000097:blood / Q000150:complications* / Q000235:genetics*; D004909:Erythrocyte Indices; D004912:Erythrocytes / Q000473:pathology*; D006445:Hemoglobin C Disease / Q000097:blood / Q000150:complications* / Q000235:genetics*; D006801:Humans; D015160:Hydrops Fetalis / Q000097:blood / Q000235:genetics*; D007473:Ion Channels / Q000235:genetics; D008297:Male; D009154:Mutation
chemical_list: D007473:Ion Channels; C515204:PIEZO1 protein, human
keywords: dehydration; erythrocyte; genetic modifier; hemoglobin C; xerocytosis