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Evaluation of genetic counseling offered to Brazilian carriers of the beta-thalassemia trait and to their relatives

Heliane Guerra Serra^I; Carmen Silvia Bertuzzo Martins^II; Roberto B. de Paiva e Silva^II; Antonio Sérgio Ramalho^II

^ICurso de Pós-Graduação em Genética, Instituto de Biologia, UNICAMP, 13081-970 Campinas, SP, Brasil
^IIDepartamento de Genética Médica, Faculdade de Ciências Médicas, UNICAMP, Caixa Postal 6111, 13081-970 Campinas, SP, Brasil. Send correspondence to A.S.R.

ABSTRACT

We evaluated the genetic counseling provided to 200 Brazilian adults with the beta-thalassemia trait. Good participation of the family in the process of genetic counseling was observed, with examination of the spouse and children in 74% and 89% of cases, respectively. Each propositus brought on average two relatives for examination. Long-term evaluation, one to 13 years after genetic counseling, was possible for 50% of this group. In this subsample, 65% of the thalassemia patients who married after genetic counseling brought their spouses for examination. In 82% of the cases, this examination was performed only after marriage and did not influence the choice of a spouse. Similarly, 75% of the thalassemic patients who had children after genetic counseling brought their children for examination. Cognitive evaluation was satisfactory for more than 2/3 of the patient groups regarding information of a practical order, with no significant variation based on sex, educational level, time after genetic counseling or type of professional that provided the counseling. Information of an academic nature was assimilated satisfactorily by approximately 50% of the individuals.

Keywords: genetic counseling; Brazilian carriers; beta-thalassemia.

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