Identification of Sickle Cell Disease and Its Associated Other Structural Variants of Hemoglobin Using High...

Sickle cell disease (SCD), a well known hemoglobinopathy, is a recessive inherited blood abnormality caused by point mutation in hemoglobin proteins, notably prevalent in the tribal belt of Madhya Pradesh, India. The study aims to identify the SCD-associated hemoglobinopathies related to α- and β-globin structural variants. Over 1,200 symptomatically positive SCD individuals were screened and 503 solubility test positive samples were identified and further complete blood count (CBC) analysis showed 382 participants with abnormal hemoglobins. Confirmatory tests were alkaline electrophoresis on cellulose acetate membrane and high performance liquid chromatography (HPLC). Our study identified Hb variants, including HbSS (21.26%), HbSF (11.39%), and HbAS (63.73%). Other prevalent variants are HbJ, Hb D-Punjab, and Hb Lepore. Moreover, based on the HPLC retention time, 99 β-variants, 115 α-variants, 12 tetramers, and eight δβ-hybrid Hb variants, with six samples serving as a control for comparative analysis. Additionally, clinical profiling showed that severities are increased in combination with HbS along with other hemoglobinopathies. Further, the study reveals that Hb variants are prevalent in females, between age group of 21-30 years showing highest frequency of SCD. This study emphasizes the effectiveness of complete hemoglobinopathy screening and clinical profiling for measuring the normal and pathological conditions of the sickle cell patients.