Family screening for HBB*S gene and detection of new cases of sickle cell trait in Northeastern Brazil
DOI:
https://doi.org/10.1590/S0034-89102008005000002Keywords:
Anemia, Sickle Cell^i2^sepidemiol, Sickle Cell Trait^i2^sepidemiol, Heterozygote Detection, Neonatal Screening, Genetic Screening, Cross-Sectional StudiesAbstract
OBJECTIVE: To estimate the additional number of affected individuals based on the prevalence of sickle-cell syndromes among relatives of index cases. METHODS: Cross-sectional study of relatives of a random sample of index cases identified through a neonatal screening program in Northeastern Brazil, between 2001 and 2005. The extended family trial model included 463 relatives of 21 index cases. Relatives were classified as nuclear family (NF: father, mother, and siblings); first degree extended family (N1: grandparents, uncles and aunts, and first cousins); second degree extended family (N2: children of first cousins); extended family (NA: NF+N1+N2); and extended nuclear family (NA1: NF+N1). The presence of HBB*S and other abnormal hemoglobins was confirmed by high-performance liquid chromatography. The association between the presence of HBB*S and other variables was calculated using prevalence ratios and their respective 95% confidence intervals, and differences between means were calculated using Student's t test with a 5% significance level. RESULTS: Of relatives, 81% had no knowledge of sickle-cell anemia and HBB*S was present in 114 family members. A total of 53.3% of the studied population was considered as of reproductive age, and 80% of HBB*S carriers had already had children. Frequency was higher among NF (69%), but was also high in N1 (22.8%). NA1 screening resulted in the detection of 69 carriers additional (a 172% increase). CONCLUSIONS: These results indicate that family screening for the identification of sickle-cell carriers should be extended to first degree relatives.Downloads
Published
2008-04-01
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Original Articles
How to Cite
Bandeira, F. M. G. C., Santos, M. N. N., Bezerra, M. A. M., Gomes, Y. M., Araujo, A. S., Braga, M. C., Souza, W. V., & Abath, F. G. C. (2008). Family screening for HBB*S gene and detection of new cases of sickle cell trait in Northeastern Brazil . Revista De Saúde Pública, 42(2), 234-241. https://doi.org/10.1590/S0034-89102008005000002