Phenotypic Diversity and Clinico-Hematological Profile of Hb E-Beta Thalassemic Children

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion
Aditi Baruah, Mrinal Kumar Baruah

Abstract

Hb E-Beta thalassemia is a disease with marked clinical diversity. In this study, phenotypic diversity of Hb E-β thalassemia children were analysed by studying the clinical and hematological parameters. This was a cross sectional study done in one and a half year period in the department of Pediatrics of a tertiary care teaching hospital. Participants were 62 Hb E-β thalassemic children of age group 1 month to 18 years coming to the Thalassemia day care centre for blood transfusion. Data collected from history, examination findings and investigation reports were analyzed. M:F ratio was 1.07:1; 71% children were above 5 years of age. 90.3% children were Hindu. In 66.1% children, Hb level was below 5 gm/dl at the time of diagnosis. Mean HbF level was 32.6% ± 11.2. Stunting was seen in 64.5%. Average liver and spleen size were 2.5 and 4.4 cm respectively. Beside pallor, most common clinical findings were splenomegaly (93.5%), facial deformity (87%), dusky skin color (82.5%) and hepatomegaly (75.8%). 1.6% children were mild, 43.5% children were moderate and 54.8% children were of severe type. In our study there was no significant correlation between severity of the disease and HbF level (r = 0.0853, p = 0.0509). Age at the time of ...Continue Reading

References

Jul 27, 2007·Hematology·Bimal KishoreKaushik Majumdar
Nov 21, 2007·Hematology·E Vichinsky
Jan 12, 2008·American Journal of Hematology·Orapan SripichaiSuthat Fucharoen
Apr 16, 2008·British Journal of Haematology·N F OlivieriD J Weatherall
Jan 26, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Antonio Cao, Renzo Galanello
Sep 15, 2010·Indian Journal of Human Genetics·Nishi MadanLate H M Bhatia
Aug 22, 2012·Cold Spring Harbor Perspectives in Medicine·Suthat Fucharoen, D J Weatherall
Jan 16, 2014·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Anjali SharmaRajbala Yadav

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