CONSANGUINITY AND LACK OF AWARENESS; STILL A WORRISOME DILEMMA AMID THALASSEMIC FAMILIES, A CROSS-SECTIONAL STUDY

Abstract

OBJECTIVE: Thalassemia is a genetic condition caused by the mutation or damaging hemoglobin synthesis on the alpha or beta globin chain. The most significant risk factor for rise in the thalassemic rate is consanguinity.The current study was conducted with the aim to find the frequency and relationship between consanguineous marriage and awareness of thalassemia transmission among parents of thalassemic children. METHODOLOGY: A cross-sectional study was conducted from Oct 2019 to Feb 2020 in Hyderabad, Sindh, Pakistan. After informed consent, the parents were interviewed and a Performa was filled out. Performa had questions about personal information, family information, and thalassemia awareness. RESULTS: Among Three hundred and eleven thalassemic children families, 26.4% didn't know consanguineous marriage causes thalassemia. 72.3% of participants weren't tested for thalassemia, and 98.7% didn't consult a doctor before marriage. only 1 % of participants did prenatal genetic testing after pregnancy. 86.8% of the parents' marriages were consanguineous. In 31.5% of these 311 children, the mother was her husband's first cousin (daughter of spouse's Father's sister). 16.4% of mothers were daughters of their spouse's Father's brother, 15.8% of the spouse's mother's brother, and 23.5% of the spouse's mother's sister. CONCLUSION: Consanguinity is alarmingly higher among thalassemic children’s parents. Urgent policies should be advised and implemented for the proper education of thalassemic families at the earliest.

Keywords

• Consanguinity
• Thalassemia.