Haematological Characterisation and Molecular Basis of Asian Indian Inversion Deletions Delta Beta Thalassemia: A Case Report
Published: September 1, 2014 | DOI: https://doi.org/10.7860/JCDR/2014/.4776
Jitender Mohan Khunger, Monika Gupta, Rekha Singh, Rohit Kapoor, Hare Ram Pandey
1. Consultant Haematologist & Associate Professor, Department of Haematology, Vardhman Mahavir Medical College and Safdar Jang Hospital, New Delhi, India.
2. Pool Officer, Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.
3. Research Associate, Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.
4. Medical Officer, CGHS Dispensary, Krishna Nagar, Delhi, India.
5. Research Associate,Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.
Correspondence
Dr.Jitender Mohan Khunger,
First Floor, Department of Haematology, VMMC & Safdarjang Hospital, New Delhi-110029, India.
Phone : +91-9810288232, Email : drjmkhunger@rediffmail.com, drjmkhunger@gmail.com
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 dß 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 G ? A ? ( dß ) zero thalassemia.
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