Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis
| Autor: | Erin B. Voelkel, Elizabeth Yang, Patrick G. Gallagher, Kimberly Lezon-Geyda, Vincent P. Schulz |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Mean corpuscular hemoglobin concentration medicine.diagnostic_test business.industry Hereditary xerocytosis Hematology medicine.disease Hemolysis Hemoglobin C 03 medical and health sciences 030104 developmental biology Endocrinology Oncology Elevated MCHC Biochemistry Internal medicine Pediatrics Perinatology and Child Health medicine Dehydration Hemoglobin C trait business Stomatocytosis |
| Zdroj: | Pediatric Blood & Cancer. 64:e26444 |
| ISSN: | 1545-5009 |
| DOI: | 10.1002/pbc.26444 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text