Hereditariedade do albinismo Oculocutâneo em um grupo populacional no estado da Bahia
DOI:
https://doi.org/10.12662/2317-3076jhbs.v9i1.3408.p1-6.2021Keywords:
Albinismo Oculocutâneo, Albinismo em Populações, Heterogeneidade Genética, Aconselhamento GenéticoAbstract
Objetivo: trazer conhecimentos sobre a hereditariedade do albinismo em famílias da Bahia, estado com estimativa de taxa elevada da característica. Métodos: pesquisa seccional descritiva por amostragem de conveniência, com consulta às fichas de atendimento do programa Genética e Sociedade (Instituto de Biologia- UFBA) e ao banco de dados da Associação de Pessoas com Albinismo da Bahia (APALBA). Resultados: no total de 457 albinos, verificaram-se 265 com mais de um caso de albinismo na família (58%). Casais formados por pessoas albinas tiveram filhos com a mesma característica, o que concorda com o modelo clássico de herança autossômica recessiva para o albinismo, que preconiza nesta situação 100% dos filhos também albinos. Entretanto, em uma família, o casal albino com traços fenotípicos de diferentes subtipos teve um filho pigmentado com avaliação oftalmológica normal. Essa ocorrência foi associada à heterogeneidade genética do albinismo parental. Conclusões: estudos sobre a transmissão hereditária do albinismo em populações numerosas podem trazer contribuições para escolhas reprodutivas, aconselhamento genético e acompanhamento em saúde, tendo em vista a implantação precoce de medidas preventivas de danos à pele e à visão.
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