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

نویسندگان

  • Jitender Mohan Khunger
  • Monika Gupta
  • Rekha Singh
  • Rohit Kapoor
  • Hare Ram Pandey
چکیده

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.

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عنوان ژورنال:
  • Journal of clinical and diagnostic research : JCDR

دوره 8 9  شماره 

صفحات  -

تاریخ انتشار 2014