Dr. Samira Kumar Behera
BACKGROUND
Haemoglobinopathies are one of the major public health problems in the world with an estimated 7% of the world population being carriers of thalassemia and haemoglobinopathies and that 3,00,000 -4,00,000 babies with severe forms of these diseases are born each year. Haemoglobinopathies are prevalent in south Odisha as evidenced from the fact that there are 511 transfusion dependent patients registered in the blood bank of MKCG Medical College and Hospital, Berhampur. They also cause significant morbidity and mortality in the population. A plethora of variant haemoglobin’s have been described in the multi-ethnic Indian population. Detection of asymptomatic carriers by reliable laboratory methods is the cornerstone of prevention of this serious health problem. We wanted to determine the spectrum of haemoglobinopathies in paediatric population diagnosed by High Performance Liquid Chromatography (HPLC) Bio-Rad Variant II. METHODS This study was a prospective study done in the Department of Pathology, MKCG Medical College and Hospital, Berhampur from October 2015 and September 2017. A total of 435 paediatric cases of suspected haemoglobinopathy were subjected to detailed clinical and routine haematological evaluation followed by HPLC using BIO-RAD ‘VARIANT II’. RESULTS Sickle cell anaemia including both disease and trait constituted the most prevalent form followed by beta thalassemia trait. The rare variants encountered were Lepore, haemoglobin E- beta thalassemia double heterozygous, haemoglobin D - beta double heterozygous, HPFH and Alfa thalassemia. CONCLUSIONS Out of 435 cases studied, 257 were of haemoglobinopathy (~59.1%). 78.5% were of sickle cell anaemia. Multi-disciplinary approach along with screening, creating public awareness by counselling and mass education can reduce both mortality and morbidity of haemoglobinopathies.
