Compound Heterozygous Beta Thalassemia with Heredietary Persistence of Fetal Haemoglobin: A Rare Haematological Combination and Different Spectrum of Thalassemia
Journal Title: Scholars Journal of Applied Medical Sciences - Year 2014, Vol 2, Issue 6
Abstract
5 year old male child presented with progressive abdominal distention, pallor, and growth failure since the age of 9 months. The foe did not respond to hematinic and required one blood transfusion for anemia. Liver and spleen were enlarged on abdominal exam. Peripheral smear showed features of haemolytic anemia and neonatal red blood cells. HPLC studies of patient revealed that father was a carrier for hereditary persistence of fetal hemoglobin (HPFH) and the mother was thalassemia trait. The child was compounded heterozygous for beta thalassemia and HPFH which resulted in relatively minor clinical severity as compared to beta thalassemia major. Keywords: Beta Thalassemia, Fetal hemoglobin
Authors and Affiliations
Jaivinder Yadav, Deepak Sharma, Hanish Bajaj Mittal, Suman Yadav, Sweta Shastri, Aakash Pandita
Keywords
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