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Hemoglobin
international journal for hemoglobin research
Volume 21, 1997 - Issue 6
32
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Original Article

Mild Thalassemia Intermedia Resulting from a New Insertion/Frameshift Mutation in the β-Globin Gene

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Pages 485-493 | Received 18 Mar 1997, Accepted 14 Aug 1997, Published online: 07 Jul 2009
 

Abstract

Hematological investigation of an antenatal patient led to the identification of a new β-thalassemia mutation involving the net insertion of eight nucleotides into exon 2 of the β-globin gene. As a result of the shift in the protein reading frame, this gene codes for an elongated β-globin chain (159 amino acids) with an abnormal amino acid sequence beyond residue β99. There is no evidence of any abnormal hemoglobin in the circulation. The patient has a mild form of ß-thalassemia intermedia with moderate anemia, evidence of iron overload, severe red cell morphological changes, a significant reticulocytosis, and a marked increase in the proportion of fetal hemoglobin.

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