| Literature DB >> 25386442 |
Jitender Mohan Khunger1, Monika Gupta2, Rekha Singh3, Rohit Kapoor4, Hare Ram Pandey5.
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.Entities:
Keywords: Fetal haemoglobin; Gap- PCR; Genetic counselling; GγAγ(δ β)0 thalassemia; Hematology analyser; Hereditary persistence of fetal hemoglobin; Thalassemia intermedia
Year: 2014 PMID: 25386442 PMCID: PMC4225894 DOI: 10.7860/JCDR/2014/8362.4776
Source DB: PubMed Journal: J Clin Diagn Res ISSN: 0973-709X