Haematological characterisation and molecular basis of asian Indian inversion deletions delta Beta thalassemia: a case report.
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.
Consultant Haematologist & Associate Professor, Department of Haematology, Vardhman Mahavir Medical College and Safdar Jang Hospital , New Delhi, India .
Jitender Mohan
JM
Khunger
Pool Officer, Department of Haematology, All India Institute of Medical Sciences , New Delhi, India .
Monika
M
Gupta
Research Associate, Department of Haematology, All India Institute of Medical Sciences , New Delhi, India .
Rekha
R
Singh
Medical Officer, CGHS Dispensary , Krishna Nagar, Delhi, India .
Rohit
R
Kapoor
Research Associate,Department of Haematology, All India Institute of Medical Sciences , New Delhi, India .
Hare Ram
HR
Pandey
Fetal haemoglobin; Gap- PCR; Genetic counselling; GγAγ(δ β)0 thalassemia; Hematology analyser; Hereditary persistence of fetal hemoglobin; Thalassemia intermedia