Haematological Characterisation and Molecular Basis of Asian Indian Inversion Deletions Delta Beta Thalassemia: A Case Report

Abstract

The hereditary persistence of fetal hemoglobin (HPFH) and delta beta thalassemia are heterogeneous disorders characterised by increased levels of fetal hemoglobin and high level of this Hb continues in adulthood. The distinction between these two conditions is not always possible with routine hematologic analysis and molecular characterisation of the defect is required. We encountered such a rare case of δβ thalassemia in a 10-year-old male child who presented with features of thalassemia intermedia. Hemoglobin analysis showed 100% HbF while molecular analysis revealed Asian Indian inversion-deletion GγAγ (δβ) zero thalassemia.

Keywords

• fetal haemoglobin
• genetic counselling
• gγaγ(δβ) 0 thalassemia
• gap- pcr
• hereditary persistence of fetal hemoglobin
• hematology analyser
• thalassemia intermedia