Disorders of haemoglobin variants in paediatric patients attending in a tertiary care hospital of north east india

Authors: Mauchumi Saikia Pathak , Monalisha Saikia Borah , Dulal Kalita
Int J Biol Med Res. 2014; 5(1): 3841-3846  |  PDF File

Abstract

Haemoglobin Variants are genetic haematological abnormalities affecting millions of people all over the world. Hb E, Hb S and β- thalassaemia are the most prevalent Hb variants in North- Eastern region of India. Identification of these disorders is immensely important to prevent the occurrence of serious haemoglobin disorders. The objective of the study was to diagnose and find the occurrence of Hb variants and the commonly associated signs and symptoms among suspected anaemic paediatric patients. In this study various abnormal haemoglobin fractions on HPLC were observed in 522 cases (65.25%) out of the total 800 cases displayed. Among the 522 cases with Hb Variants, 268 (51.34%) were males and 254 (48.66%) were females. Hb E heterozygous is the most common form of Hb Variants (23.5%), followed by β thalassaemia trait (18.12%), Compound Hb E - β thalassaemia trait (9%), Hb E homozygous (6.5%), Hb S trait (3.25%), β thalassaemia major (2.12%), Hb S disease (2%), α- thalassaemia (0.63%) and Compound Hb S- β thalassaemia (0.13%) respectively. Anaemia is the most common sign observed in all variant types. Other associated clinical manifestations are weakness, aches and pain, splenomegally, hepatosplenomegally, stomach pain, joint pain and fever.