Authors: Sagar Bayaskar , Aishwarya Mahalle

Abstract

Background: Sickle cell disease (SCD) is a hereditary blood disorder with high prevalence among tribal populations in India. This study uniquely evaluates the impact of genetic counselling on disease awareness and mental health in India’s tribal communities, where limited access to such services exacerbates disease burden. 
Methods: A qualitative, cross-sectional study involved 35 participants aged 20–44 years in a high-risk tribal region of Maharashtra, India. Participants included one SCD patient, one caregiver, one community health worker (CHW), two healthcare professionals (a hematologist and a psychiatrist), and 30 community members. Semi-structured interviews, developed through literature review and pilot-tested, explored SCD knowledge, preventive strategies, and psychological well-being. Thematic analysis compared outcomes between counselled (n=18) and non-counselled (n=17) participants. 
Results: Counselled participants demonstrated greater knowledge of SCD’s genetic basis (94% vs. 24%), symptoms (89% vs. 35%), and preventive measures (83% vs. 12%), such as premarital screening. They also showed higher engagement in community initiatives (83% vs. 12%) and reported reduced anxiety (78% vs. 29%), improved coping, and greater emotional resilience. Non-counselled participants often misidentified SCD as an infection (59%) or general anemia (41%) and reported higher stress (71%) and sleep disturbances (53%). 
Conclusion: Genetic counselling significantly enhances SCD awareness and psychological resilience in tribal communities. Expanding culturally tailored counselling services is critical to reducing SCD burden in underserved areas.

Keywords: Sickle Cell Disease; Genetic Counselling; Mental Health; Preventive Health Services; Health Knowledge, Attitudes, Practice