Coinheritance of hereditary elliptocytosis and deletional hemoglobin H disease.



Charoenkwan P, Natesirinilkul R, Choeyprasert W, Kulsumritpon N, Sangiamporn O.

J Pediatr Hematol Oncol. 2017 Mar;39(2):e69-e70.

Abstract

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 hereditaryelliptocytosis 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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