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Sickle cell disease in India.

B C Kar1

  • 1VSS Medical College, Burla.

The Journal of the Association of Physicians of India
|December 1, 1991
PubMed
Summary

Sickle cell gene frequency in India is significant, affecting various social groups. This genetic disorder, sickle cell disease, presents diverse clinical manifestations and requires timely medical intervention.

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Area of Science:

  • Medical Genetics
  • Hematology
  • Epidemiology

Background:

  • The sickle cell gene (S gene) exhibits varying prevalence across different populations.
  • Understanding the distribution and clinical impact of the sickle cell gene is crucial for public health initiatives.

Purpose of the Study:

  • To determine the frequency of the sickle cell gene in Indian populations.
  • To analyze the clinical and genetic characteristics of sickle cell disease in India.

Main Methods:

  • Screening of 9,822 hospitalized patients and a population survey of 1,000 individuals.
  • Analysis of clinical data from 700 sickle cell disease patients at the Sickle Cell Research Centre.
  • Genetic analysis including alpha thalassaemia gene frequency in patients with sickle cell gene.

Main Results:

  • Sickle cell gene frequency was 11.1% in hospitalized patients and 15.1% in the general population.
  • The gene is prevalent across various social strata, including scheduled castes and caste Hindus.
  • Sickle cell disease patients exhibited diverse genotypes (SS, S-beta thalassaemia, SD, SE) and clinical manifestations like anemia, vaso-occlusive attacks, and bone necrosis.

Conclusions:

  • A distinct sickle cell belt can be identified in India based on gene distribution.
  • Sickle cell disease presents with variable severity and age of onset, necessitating comprehensive medical management.
  • Co-inheritance with alpha thalassaemia is observed in sickle cell patients.

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