Hemoglobin Hakkari: An autosomal dominant form of beta thalassemia with inclusion bodies arising from de novo mutation in exon 2 of beta globin gene

• Published in: Pediatric blood & cancer Vol. 54; no. 2; pp. 332 - 335
• Main Authors: Kanathezhath, B., Hazard, F.K., Guo, H., Kidd, J., Azimi, M., Kuypers, F.A., Vichinsky, E.P., Lal, A.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.02.2010
• Subjects: Age; Anemia; Arginine; autosomal dominant thalassemia; beta-Globins - genetics; beta-Thalassemia - genetics; beta-Thalassemia - pathology; Blood; Bone marrow; Cancer; Codons; de novo mutation; Erythrocytes; Erythropoiesis; Exons; Guatemala; Heme; Hemoglobin; Hemoglobins, Abnormal - genetics; Humans; Inclusion Bodies; inclusion body thalassemia; ineffective erythropoiesis; Infant; Leucine; Male; Osteoprogenitor cells; Point Mutation; Thalassemia; unstable hemoglobin; Guatemala
• ISSN: 1545-5009; 1545-5017; 1545-5017
• DOI: 10.1002/pbc.22167

Certain β globin gene mutations produce a thalassemia major phenotype in the heterozygous state. While most such patients have thalassemia intermedia, we describe a young Guatemalan child with a de novo mutation in the β globin gene, codon 31 T → G (Hemoglobin Hakkari), who developed severe anemia at the age of 10 months and remains transfusion‐dependent. The substitution of B13 leucine with arginine in the β globin results in alteration of a critical heme contact point resulting in an extremely unstable variant hemoglobin and a clinical picture that is characterized by ineffective erythropoiesis and numerous intracytoplasmic inclusions within the erythrocyte precursors of the bone marrow. Pediatr Blood Cancer 2010;54:332–335. © 2009 Wiley‐Liss, Inc.