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Hereditary hemoglobinopathies, the most common monogenic hemoglobin (Hb) disorders, result in a variety of clinical consequences. It has been observed that various Hb variants and thalassemias are found common to… Click to show full abstract
Hereditary hemoglobinopathies, the most common monogenic hemoglobin (Hb) disorders, result in a variety of clinical consequences. It has been observed that various Hb variants and thalassemias are found common to specific ethnic groups and regions. Hb DIran is a structural Hb variant resulting from the substitution of glutamine with glutamate at codon 22 (GAA>CAA, Glu>Gln) of the beta globin gene. This Hb variant was first reported by Rahbar in 1973 in a family from the central part of Iran.1 A deletion of four bases in codon 41/42 (-CTTT) is a rare 0-thalassemia mutation reported in India with a prevalence of 3–15%.2 The present report describes a rare combination of these two mutations for the first time in India.
Journal Title: Hematology, Transfusion and Cell Therapy
Year Published: 2018
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