Spectrum of Sickle Cell Diseases in Patients Diagnosed at a Tertiary Care Centre in Karnataka with Special Emphasis on their Clinicohaematological Profile.

INTRODUCTION: Sickle cell disease is a monogenic disorder with considerable clinical diversity and Sickle haemoglobin is responsible for wide spectrum of disorders which vary with respect to severity of anaemia, frequency of crises and duration of survival. As they are confused with many other clinically aggressive disorders, precision in diagnosis is essential both to proper clinical management and subsequent genetic counselling. Hence, this study was taken up in order to diagnose these conditions and administer suitable counselling measures to minimise the incidence of sickle cell disease in the future. AIM: The aim of this study was to identify the spectrum of all Sickle cell diseases diagnosed at a tertiary care centre in Bangalore, Karnataka, India who presented over a period of five years from 2009 to 2013 and also to screen the parents and siblings of the patients for their carrier status.
MATERIALS AND METHODS: We reviewed 26 cases of Sickle Cell Disease (SCD) and also 38 parents & 10 siblings of these children for their carrier status. Haemoglobin electrophoreses was performed by using alkaline gel method, followed by High Performance Liquid Chromatography when needed.
RESULTS: A total of 26 children diagnosed with SCD were enrolled in the study. Most common entity was Sickle Cell Anaemia (SCA), followed by sickle thalassaemia and Sickle Cell Trait (SCT). Commonest clinical presentation was fever and pallor. Amongst the parents and siblings, sickle cell trait was the most common entity followed by thalassaemia trait. One interesting case of HbSE disease was encountered, which is a rare entity in India.
CONCLUSION: This study brings out the total spectrum of SCDs in a tertiary care centre in Karnataka, with more emphasis on screening of the parents and siblings for their carrier status.