Overview of the Distribution and Presentation of Patients with Sickle Cell Disorders: A Report from a Tertiary Care Centre in Eastern Part of India

Abstract

Aims: With globalisation, patients with Sickle cell disorders can be found all over the world. Depending on the original genotype, the disease manifestations vary. This study aimed to assess the distribution and clinical presentation of patients with Sickle homozygous/ heterozygous diseases in the eastern part of India. Study Design: Retrospective analysis. Place and duration of study: Department of Hematology at NRS Medical College, Kolkata, between 1st January 2018 to 31st May 2020 (2 years and 4 months). Methodology: Patients having hemoglobinopathies with any type of Sickle haemoglobin (HbS), such as, Sickle cell anemia/homozygous Sickle cell disorders(SCA); compound heterozygous diseases, like Sickle cell/β thalassemia(HbS/β), Sickle cell/Delta thalassemia (HbS/D), Sickle cell Haemoglobin/E thalassemia(HbS/E); or Sickle cell trait(HbS trait), have been included. Thorough history was elicited and every patient was clinically examined. Published literature was analysed to assess the differences in disease presentation. Results: Total 95 patients with a component of HbS were assessed and HbS/β (53.7%) patients comprised the majority, followed by SCA (30.5%). Median age of presentation to our clinic was 17years (range 2-50years). HbS/β and SCA patients had a median age of presentation of 17.5years and 12years, respectively. Commonest clinical presentation was pain crisis (32,33.7%) - abdominal (11,11.6%) or bone pain (13,13.7%). Other presentations were pallor (26,27.4%), jaundice (12,12.6%) and fever (4,4.2%). Most patients had more than one complaint. Occasional patients required hospital admission for pain, fever or convulsions. HbS trait (5,5.3%) was diagnosed incidentally. Most patients who attended our center hailed from the nearby district of North 24 Parganas (26,27.4%), and fewer patients came from distant districts and neighbouring states. Patients were treated with Hydroxyurea, with/without blood transfusions or chelation. Conclusion: Most studies conducted in India have highlighted the prevalence of Sickle cell disorders among specific endemic populations, unlike in our analysis. HbS/β was more common than SCA, and, median age of disease presentation was later than that in published literature. There is a variation in the severity of disease manifestation in our cohort. Commonest painful crisis was bone pain, followed by abdominal pain. Stroke, a common manifestation of SCA in other countries, was rare in our cohort.