Animated navigation - turn off
Animated navigation - turn off

  • Abstract

    • Background:

      Hemoglobinopathies remain a major public health challenge in India, particularly in western Rajasthan where carrier frequencies are high but under-recognized among young adults. Premarital and preconception screening programs may enable primary prevention through informed reproductive decision-making and early family-based interventions.

      Methods:

      A community-based cross-sectional study was conducted between December 2023 and April 2024 among 1,384 unmarried individuals aged 19–32 years recruited from colleges and hostels in western Rajasthan following awareness sessions and informed consent. Peripheral blood samples underwent complete blood count and hemoglobin fraction analysis by HPLC. Individuals with abnormal red cell indices (HbA₂ >3.9%, MCV <80 fL, MCH <27 pg) or abnormal hemoglobin peaks underwent molecular testing. Six common β-thalassemia mutations and the sickle mutation (GAG→GTG) were screened using ARMS-PCR and Gap-PCR. Mutation-negative samples underwent Sanger sequencing. Post-test genetic counseling and cascade family screening were offered to all identified carriers. Statistical analysis was performed using SPSS v22.0.

      Results:

      Overall carrier prevalence was 4.72% (62/1,384). β-thalassemia trait constituted 69.3% of carriers,

      followed by HbD Punjab (16.2%), sickle cell trait (11.2%), and HbE trait (2.9%). Among β-

      thalassemia carriers (n=43), common mutations were detected in 76.7% by ARMS-PCR. The most

      frequent mutation was IVS-1-5 (G>C) [c.92+5G>C] (39.5%), followed by CD8/9 (+G), IVS-1-1 (G>T),

      CD41/42 (–CTTT), and CD15 (G>A). Sanger sequencing identified uncommon variants in mutation-

      negative individuals. Although all carriers received individualized genetic counseling, uptake of

      cascade screening remained limited, with parental participation at 35% and sibling HPLC screening

      at 25%.

      Conclusions:

      A structured awareness-linked screening model integrating HPLC with tiered molecular diagnostics

      effectively identifies hemoglobinopathy carriers in premarital populations. The predominance of

      region-specific β-globin mutations supports targeted molecular screening panels for western

      Rajasthan. However, poor uptake of cascade screening highlights sociocultural and implementation

      barriers requiring strengthened counseling and community engagement strategies. Integration of

      such preventive programs into college health systems could substantially reduce the future burden

      of severe hemoglobinopathies through informed partner screening and reproductive planning.

       

      Author Block

      Pratibha Singh (AIIMS Jodhpur), Dolat Singh Shekhawat (AIIMS Jodhpur), Siyaram Didel (AIIMS

      Jodhpur), Abhishek Purohit (AIIMS Jodhpur), Charu Sharma (AIIMS Jodhpur), Varuna Vyas (AIIMS

      Jodhpur), Kuldeep Singh (AIIMS Jodhpur)

      Poster Board Number