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Case Reports
. 2014 Sep;8(9):FD01-2.
doi: 10.7860/JCDR/2014/8362.4776. Epub 2014 Sep 20.

Haematological characterisation and molecular basis of asian Indian inversion deletions delta Beta thalassemia: a case report

Jitender Mohan Khunger  1 , Monika Gupta  2 , Rekha Singh  3 , Rohit Kapoor  4 , Hare Ram Pandey  5
Affiliations
Case Reports

Haematological characterisation and molecular basis of asian Indian inversion deletions delta Beta thalassemia: a case report

Jitender Mohan Khunger et al. J Clin Diagn Res. 2014 Sep.

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 δ β 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(δ β) zero thalassemia.

Keywords: Fetal haemoglobin; Gap- PCR; Genetic counselling; GγAγ(δ β)0 thalassemia; Hematology analyser; Hereditary persistence of fetal hemoglobin; Thalassemia intermedia.

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Figures

[Table/Fig-2]:
[Table/Fig-2]:
PCR done showing fragments obtained after amplication for Mutation
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