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

Abstract

Certain beta 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 beta 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 beta 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.

• Authors: B Kanathezhath, F K Hazard, H Guo, J Kidd, M Azimi, F A Kuypers, E P Vichinsky, A Lal
• Journal: Pediatric blood & cancer (Pediatr Blood Cancer) Vol. 54 Issue 2 Pg. 332-5 (Feb 2010) ISSN: 1545-5017 [Electronic] United States
• PMID: 19852066 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: (c) 2009 Wiley-Liss, Inc.

Chemical References

• Hemoglobins, Abnormal
• beta-Globins

Topics

• Guatemala
• Hemoglobins, Abnormal (genetics)
• Humans
• Inclusion Bodies
• Infant
• Male
• Point Mutation
• beta-Globins (genetics)
• beta-Thalassemia (genetics, pathology)