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Hemoglobin Hakkari: An autosomal dominant form of beta thalassemia with inclusion bodies arising from de novo mutation in exon 2 of beta globin gene
Author(s) -
Kanathezhath B.,
Hazard F.K.,
Guo H.,
Kidd J.,
Azimi M.,
Kuypers F.A.,
Vichinsky E.P.,
Lal A.
Publication year - 2010
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22167
Subject(s) - ineffective erythropoiesis , thalassemia , medicine , point mutation , mutation , beta thalassemia , exon , hemoglobin , genetics , globin , anemia , gene , erythropoiesis , biology
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.