Consanguineous Marriages and Thalassemia: A Study on Pre-Marital Screening; Caregiver and Family Awareness

Mir Hassan Khoso; Nusrat Shah; Mazhar Mushtaq; Muhammad Shoaib; Mubashira Imdad Khoso; Abdul Hannan; Rahemeen Siddique; Adeeba Abdullah Kamboh; Abdul Raheem; Muhammad Yahya; Furqan Hyder

doi:10.61919/wpctzv39

Authors

Mir Hassan Khoso Department of Biochemistry, Chandka Medical College, Shaheed Mohtarma Benazir Bhutto Medical University, Larkana, Pakistan Author https://orcid.org/0000-0003-4408-3365
Nusrat Shah Shaheed Mohtarma Benazir Bhutto Medical University, Larkana, Pakistan Author
Mazhar Mushtaq Associate Professor, Basic Sciences Department, Sulaiman Al Rajhi University, Al Qassim, Saudi Arabia Author
Muhammad Shoaib Chandka Medical College, Shaheed Mohtarma Benazir Bhutto Medical University, Larkana, Pakistan Author
Mubashira Imdad Khoso Chandka Medical College, Shaheed Mohtarma Benazir Bhutto Medical University, Larkana, Pakistan Author
Abdul Hannan Chandka Medical College, Shaheed Mohtarma Benazir Bhutto Medical University, Larkana, Pakistan Author
Rahemeen Siddique Basic Sciences Department, Sulaiman Al Rajhi University, Al Qassim, Saudi Arabia Author
Adeeba Abdullah Kamboh Chandka Medical College, Shaheed Mohtarma Benazir Bhutto Medical University, Larkana, Pakistan Author
Abdul Raheem Chandka Medical College, Shaheed Mohtarma Benazir Bhutto Medical University, Larkana, Pakistan Author
Muhammad Yahya Chandka Medical College, Shaheed Mohtarma Benazir Bhutto Medical University, Larkana, Pakistan Author
Furqan Hyder Chandka Medical College, Shaheed Mohtarma Benazir Bhutto Medical University, Larkana, Pakistan Author

DOI:

https://doi.org/10.61919/wpctzv39

Keywords:

Consanguineous marriage, Thalassemia, Caregivers, Premarital screening, Awareness.

Abstract

Background: Thalassemia remains a major preventable inherited blood disorder in Pakistan, where high carrier frequency, frequent consanguineous marriage, and limited uptake of premarital screening contribute to continued disease transmission. Objective: This study assessed caregiver awareness, cultural acceptance of cousin marriage, consanguinity patterns, family history, and willingness for premarital or future pregnancy-related screening among families of registered thalassemia patients. Methods: A descriptive cross-sectional study was conducted from June 2024 to January 2025 at the Fatimid Foundation, Shaheed Benazir Bhutto Thalassemia Centre, Larkana, Pakistan. Data were collected from 172 caregivers using a semi-structured questionnaire covering sociodemographic factors, consanguinity, family history, awareness, screening practices, cultural perception, physician counseling, age at diagnosis, and blood group. Categorical variables were analyzed using frequencies, percentages, chi-square tests, and phi correlation coefficients. Results: Consanguineous marriage was reported in 85% of families, while cultural acceptance of cousin marriage was reported in 92%. Family affected status was present in 47%. Premarital screening uptake was very low at 2%, whereas willingness for screening before future pregnancy increased to 76% after counseling. Consanguinity was significantly associated with cultural perception (r = 0.36, p < 0.001), and family affected status was associated with family history (r = 0.37, p < 0.001). Awareness showed only a weak association with screening behavior (r = 0.21, p = 0.004). Conclusion: Cultural acceptance of consanguinity and weak translation of awareness into screening behavior remain major barriers to thalassemia prevention. Physician-led counseling, cascade family screening, and culturally sensitive premarital screening programs are needed in high-risk communities.

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