Coinheritance of hereditary elliptocytosis and deletional hemoglobin H disease

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 r...

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Bibliographic Details
Main Authors: Pimlak Charoenkwan, Rungrote Natesirinilkul, Worawut Choeyprasert, Natchanon Kulsumritpon, Orapan Sangiamporn
Format: Journal
Published: 2018
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Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85008334872&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/57789
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Institution: Chiang Mai University
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Summary: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.