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Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies
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Haematological characterisation and molecular basis of asian Indian inversion deletions delta Beta thalassemia: a

Jitender Mohan Khunger1, Monika Gupta2, Rekha Singh3

  • 1Consultant Haematologist & Associate Professor, Department of Haematology, Vardhman Mahavir Medical College and Safdar Jang Hospital , New Delhi, India .

Journal of Clinical and Diagnostic Research : JCDR
|November 12, 2014
PubMed

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 haemoglobinGap- PCRGenetic counsellingGγAγ(δ β)0 thalassemiaHematology analyserHereditary persistence of fetal hemoglobinThalassemia intermedia

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