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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| Main Authors: | , , , , |
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| 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/6653943832/47274 |
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| Institution: | Chiang Mai University |
| 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. |
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