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

Dhirendra Kumar1, Lokeswara Bala Krishna S2, Sridevi Parikipandla3

  • 1Department of Biotechnology, Indira Gandhi National Tribal University, Amarkantak, India.

Hemoglobin
|January 28, 2026
PubMed

Insights

Sickle cell disease (SCD) screening in India identified common Hb variants like HbSS, HbSF, and HbAS. Clinical profiling revealed increased severity with combined HbS and other hemoglobinopathies, particularly in females aged 21-30.

Area of Science:

  • Hematology
  • Medical Genetics
  • Population Health

Background:

  • Sickle cell disease (SCD) is a prevalent inherited blood disorder caused by hemoglobin mutations.
  • SCD disproportionately affects tribal populations, with a notable presence in Madhya Pradesh, India.
  • Understanding the spectrum of hemoglobinopathies associated with SCD is crucial for effective management.

Purpose of the Study:

  • To identify and characterize SCD-associated hemoglobinopathies, focusing on alpha (α) and beta (β)-globin structural variants.
  • To correlate hemoglobin variants with clinical severity and demographic factors in an Indian cohort.
  • To evaluate the utility of comprehensive hemoglobinopathy screening and clinical profiling in SCD management.

Main Methods:

  • Screening of over 1,200 symptomatic individuals for SCD.
  • Utilized solubility tests, complete blood count (CBC), alkaline electrophoresis, and high-performance liquid chromatography (HPLC) for sample analysis.
  • Detailed clinical profiling and comparative analysis of identified hemoglobin variants.

Main Results:

  • Identified high frequencies of HbSS (21.26%), HbSF (11.39%), and HbAS (63.73%) among positive samples.
  • Detected other significant variants including HbJ, Hb D-Punjab, and Hb Lepore.
  • HPLC analysis revealed numerous β-variants (99), α-variants (115), tetramers (12), and δβ-hybrid Hb variants (8). Increased severity was noted with combined HbS and other hemoglobinopathies, with a higher prevalence in females aged 21-30.

Conclusions:

  • Comprehensive hemoglobinopathy screening, including electrophoresis and HPLC, is effective in identifying diverse Hb variants in SCD patients.
  • Clinical profiling alongside genetic analysis provides critical insights into disease severity and patient stratification.
  • The findings underscore the importance of targeted screening programs in high-prevalence regions like tribal India for better SCD patient care.

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