Parents have limited understanding of sickle cell disease (SCD) and how it is passed down in families, which can affect reproductive decisions, according to a Brazilian study of mothers of children with SCD published in Revista Brasileira de Enfermagem.
The authors conducted a qualitative study using semistructured interviews with 23 mothers of children with SCD to determine their knowledge of the disease.
SCD is an inherited disorder, and the only cure is through allogeneic hematopoietic stem cell transplantation (aHSCT) from a related donor. Familial detection is important for treatment, quality of life, and prevention of complications.
In Brazil, it’s estimated that about 4% of the population has sickle cell trait. Those with the sickle cell trait (HbAS) can pass it on even if the individual doesn’t have SCD. A child of 2 parents with the trait has a 25% chance of developing SCD.
Brazil has a national screening program to identify newborns with SCD or the HbAS with the Heel Prick Test. The study authors noted that families should be aware of the genetics of SCD through genetic counseling to make informed reproductive decisions.
All 23 mothers interviewed had the sickle cell trait. Many did not know the trait ran in their families before being tested. Most participants found out about sickle cell trait or disease when they received their child’s Heel Prick Test results. However, many participants did not understand the disease or heritability.
The authors found that more preconception genetic counseling is needed so that families can make informed decisions about having a child. Knowing the risk of passing down the trait or disease can help families receive care early to improve outcomes if their child has the disease.
Rocha R, Souza TV, Morais RCM, Nascimento LCN, Couto LLD, Farias IFA. (Lack of) knowledge of mothers about sickle cell trait and disease: a qualitative study. Rev Bras Enferm. 2021;75(1):e20201217. doi:10.1590/0034-7167-2020-1217