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Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease

Charoenkwan, Pimlak MD; Natesirinilkul, Rungrote MD; Choeyprasert, Worawut MD; Kulsumritpon, Natchanon; Sangiamporn, Orapan

Journal of Pediatric Hematology/Oncology: March 2017 - Volume 39 - Issue 2 - p e69–e70
doi: 10.1097/MPH.0000000000000750
Online Articles: Morphology Corner

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.

*Department of Pediatrics, Division of Hematology and Oncology

Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand

The authors declare no conflict of interest.

Reprints: Pimlak Charoenkwan, MD, Department of Pediatrics, Division of Hematology and Oncology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand (e-mail: pimlak.c@cmu.ac.th).

Received August 13, 2016

Accepted December 2, 2016

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