A pilot study to explore knowledge, attitudes, and beliefs about sickle cell trait and disease.
BACKGROUND
In the United States, newborn screening programs universally identify newborns with sickle cell disease (SCD) and heterozygote carriers (sickle cell trait [SCT]). Although there is a consensus to disclose SCT to parents, there are limited empirical data about whether and how this information is transmitted to the carrier children.


METHODS
In-person questionnaires were administered to parents with SCT and parents of a child with either SCD or SCT to examine the knowledge, attitudes, beliefs, and disclosure patterns about SCT of parents.


RESULTS
Fifty-three adults were interviewed, half (27) of whom had a child with SCD. There was significant misunderstanding about sickle cell inheritance (mean score, 68%), but parents who have a child with SCD have better knowledge compared to those without a child with SCD (78% vs 58%, p = .002). Respondents perceive minimal stigma associated with SCT. Unless there is an affected proband, individuals with SCT rarely receive counseling or education outside of the family.


CONCLUSIONS
There is significant misinformation about what it means to be a carrier and its health and reproductive implications. Formal professional counseling is rare, especially for those families without an affected proband. Strategies to increase the utilization of counseling and improve genetic literacy are necessary.
Acharya
Kruti
K
Department of Pediatrics, MacLean Center for Clinical Medical Ethics, University of Chicago, Chicago, Illinois 60637, USA. kacharya@peds.bsd.uchicago.edu
Lang
Colleen Walsh
CW
Ross
Lainie Friedman
LF
D000328:Adult; D000755:Anemia, Sickle Cell / Q000235:genetics; D003376:Counseling; D003469:Culture; D007722:Health Knowledge, Attitudes, Practice; D006579:Heterozygote; D006801:Humans; D010865:Pilot Projects; D012805:Sickle Cell Trait / Q000235:genetics; D011795:Surveys and Questionnaires