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<p>Sickle cell disease (SCD) imposes a concentrated burden on Scheduled Caste and Scheduled Tribe communities of Southern Odisha, yet intergenerational haemoglobin S (HbS) transmission dynamics within affected kinship networks remain poorly characterised. In this pedigree-based study, 100 HbAS index cases identified through door-to-door community screening using the sodium metabisulfite sickling test were approached for genealogical tracing; 23 (23%) provided complete multigenerational data spanning at least three generations, yielding 241 individuals across 46 nuclear families. HbS status was confirmed by alkaline cellulose acetate haemoglobin electrophoresis. Among traced relatives, 47 (19.5%) were HbAS and 17 (7.1%) HbSS — proportions reflecting proband-ascertained enrichment, not population prevalence. The HbS allele frequency within the pedigree sample was q = 0.168, reflecting the proband-based study design rather than community prevalence. 52% of pedigrees contained at least one SCD-affected individual; all HbSS cases arose exclusively from HbAS × HbAS unions, confirming autosomal recessive inheritance. Consanguineous unions were documented across multiple pedigrees. The remaining 47.8% carrier-only pedigrees carry identical latent reproductive risk. Of the 23 recorded deaths, the mean age at death among reported SCD-associated cases was 28.3 ± 6.7 years, compared with 62.1 ± 5.3 years for deaths of undetermined cause; no significant sex difference in age at death was observed (t(21) = 1.07, <i>p</i> = 0.30). These findings support pedigree-based cascade screening and consanguinity-informed counselling as priorities for National Sickle Cell Anaemia Elimination Mission (NSCEM) implementation in this sickle cell belt district.</p>

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Tracing Hemoglobin S through Three Generations: A Pedigree-Based Analysis of Transmission Patterns and Family-Screening Implications in Southern Odisha, India

  • 期刊论文

  • 发表日期：

    2026年7月20日

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  • Basanta Kumar Bindhani,
  • Saubhagya Laxmi Singh

摘要

Sickle cell disease (SCD) imposes a concentrated burden on Scheduled Caste and Scheduled Tribe communities of Southern Odisha, yet intergenerational haemoglobin S (HbS) transmission dynamics within affected kinship networks remain poorly characterised. In this pedigree-based study, 100 HbAS index cases identified through door-to-door community screening using the sodium metabisulfite sickling test were approached for genealogical tracing; 23 (23%) provided complete multigenerational data spanning at least three generations, yielding 241 individuals across 46 nuclear families. HbS status was confirmed by alkaline cellulose acetate haemoglobin electrophoresis. Among traced relatives, 47 (19.5%) were HbAS and 17 (7.1%) HbSS — proportions reflecting proband-ascertained enrichment, not population prevalence. The HbS allele frequency within the pedigree sample was q = 0.168, reflecting the proband-based study design rather than community prevalence. 52% of pedigrees contained at least one SCD-affected individual; all HbSS cases arose exclusively from HbAS × HbAS unions, confirming autosomal recessive inheritance. Consanguineous unions were documented across multiple pedigrees. The remaining 47.8% carrier-only pedigrees carry identical latent reproductive risk. Of the 23 recorded deaths, the mean age at death among reported SCD-associated cases was 28.3 ± 6.7 years, compared with 62.1 ± 5.3 years for deaths of undetermined cause; no significant sex difference in age at death was observed (t(21) = 1.07, p = 0.30). These findings support pedigree-based cascade screening and consanguinity-informed counselling as priorities for National Sickle Cell Anaemia Elimination Mission (NSCEM) implementation in this sickle cell belt district.