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Title: Coinheritance of hereditary elliptocytosis and deletional hemoglobin H disease
Authors: Pimlak Charoenkwan
Rungrote Natesirinilkul
Worawut Choeyprasert
Natchanon Kulsumritpon
Orapan Sangiamporn
Keywords: Medicine
Issue Date: 1-Jan-2017
Abstract: Copyright © 2017 Wolters Kluwer Health, Inc. All rights reserved. Hereditary elliptocytosis is an inherited red blood cell membrane disorder characterized by typical peripheral blood smear findings of elliptocytes or rod-like red blood cells. Hemoglobin H disease is a form of α-thalassemia disease resulting in mild to moderate hemolytic anemia. The authors report 1 case of a girl who was diagnosed with oculo-auriculo-vertebral spectrum and a coinheritance of hereditary elliptocytosis and deletional hemoglobin H disease. She had moderate, non-transfusion-dependent anemia. The red blood cells showed marked poikilocytosis and fragmentation. The parents were α-thalassemia carriers and the father had the typical red blood cell morphology of common hereditary elliptocytosis.
ISSN: 15363678
Appears in Collections:CMUL: Journal Articles

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