title: Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease.
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 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.
authors.affiliation: *Department of Pediatrics, Division of Hematology and Oncology †Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
authors.forename: Pimlak
authors.initials: P
authors.lastname: Charoenkwan
authors.forename: Rungrote
authors.initials: R
authors.lastname: Natesirinilkul
authors.forename: Worawut
authors.initials: W
authors.lastname: Choeyprasert
authors.forename: Natchanon
authors.initials: N
authors.lastname: Kulsumritpon
authors.forename: Orapan
authors.initials: O
authors.lastname: Sangiamporn
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004612:Elliptocytosis, Hereditary / Q000150:complications* / Q000235:genetics; D004913:Erythrocytes, Abnormal; D005260:Female; D005838:Genotype; D006053:Goldenhar Syndrome / Q000150:complications*; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000209:etiology; D008297:Male; D017384:Sequence Deletion; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000150:complications* / Q000235:genetics
chemical_list: D055542:alpha-Globins