📖 ABSTRACT/OVERVIEW
This study evaluates sickle cell disease (SCD) counselling practices and genetic knowledge among parents of children with SCD attending the paediatric clinic of the Federal Teaching Hospital, Gombe, North East Nigeria. Effective parental counselling and genetic education are critical for primary prevention of SCD through informed reproductive decisions and for supporting optimal child management. A cross-sectional study recruited 150 parents of SCD-affected children using a structured interview-based questionnaire assessing genetic knowledge, counselling history, reproductive decision-making, and perceived barriers to information access. Only 38 percent of parents correctly understood the autosomal recessive inheritance pattern of SCD. Among those with additional unborn children following the birth of an affected child, 61 percent had not undergone pre-pregnancy genotype testing for the subsequent pregnancy. Formal genetic counselling had been received by 44 percent of enrolled parents, with the majority receiving brief explanations from junior health workers rather than qualified genetic counsellors. Language barriers (inadequate Hausa translation of genetic information) were cited by 52 percent of parents as a significant comprehension challenge. Willingness to undergo pre-marital genotype testing for future children was high (91%), indicating favourable attitudes when adequately informed. The study recommends integration of culturally adapted genetic counselling into the Federal Teaching Hospital Gombe paediatric follow-up protocol, training of community health workers in SCD genetics communication, and development of Hausa-language patient education materials. Keywords: sickle cell disease, genetic counselling, parental knowledge, Gombe State, haemoglobin genetics.
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