Sickle Cell Disease in Central India: Haematological and Clinical Insights from a Large Cohort of Patients

Sickle cell disease (SCD) is an inherited blood disorder that affects haemoglobin. Understanding the variability in the presentation of SCD is important for effective disease management. The present study is a cross-sectional analysis of a cohort of 752 SCD patients during 2016-2020, collected as routine institutional data from the Vidarbha region of central India, undertaken to explore the haematological, molecular and clinical features. Among the 752 SCD patients, 85.8% were SS, and 13.8% were S-β thal while the remaining 0.7% were the HbS-D Punjab variant. The median age of the patients was 17 (IQR: 9-27) years. Among them, 41.4% belonged to the scheduled caste and 17.8% belonged to the scheduled tribe. Common clinical presentations showed hospitalizations (51.3%), blood transfusions (32.4%), febrile episodes (50.7%), acute chest syndrome (29.5%), painful severe crisis (7.5%), and avascular necrosis (AVN) (4.2%). Haematological findings revealed that S-β thal has lower MCV, MCH and MCHC and higher RBC counts compared to SS. Only 24.5% of patients reported consumption of hydroxyurea (HU) regularly. Haemoglobin levels were found to be significantly (P < 0.05) higher in patients receiving HU. Additionally, higher HbF (%) and lower HbS (%) were observed in patients consuming HU. The Xmn1 polymorphism was determined in 342 SCD patients. Out of that 298 (86.6%) patients were homozygous (+/+) and 44 (13.4%) were heterozygous (+/-). The HbF% levels were significantly higher (P = 0.04) in those patients with Xmn1 homozygous (+/+) as compared to the patients with heterozygous (+/-) in S-β thal. During this study course, 21 SS disease patients lost their lives. Our study offers realistic insights into the haematological, clinical and molecular spectrum of a cohort of SCD from the Vidarbha region. The clinical course of the disease is influenced by many factors, such as HbF levels, Xmn polymorphism and HU consumption etc., The study highlights the suboptimal use of HU among the patients. HU has shown an improved clinical course, and its coverage needs to be increased. The comparison of age group-wise distribution of SCD patients and the general population in younger and older age groups reflects early mortality in SCD patients.

The online version contains supplementary material available at 10.1007/s12288-025-02262-x.