In the context of an inherited condition such as sickle cell disease (SCD), it is critical to understand how people with SCD or carriers (sickle cell trait [SCT]) face the challenges of making informed reproductive health decisions. Currently, more than 70,000 Americans are diagnosed with SCD and an additional 2.5 million African Americans are living with SCT (Sickle Cell Disease Association of American, Inc. [SCDAA], n.d.
). SCD consists of a series of closely related inherited hemoglobin disorders including homozygous SCD (SCD-SS; HbSS), sickle hemoglobin C disease (SCD-SC; HbSC) and two common types of sickle beta thalassemia (SCD-S βo
-thal, HbS βo
-thal, HbS β+
-thal; see ). SCD and SCT are most commonly found in people of African, Mediterranean, Middle Eastern and Indian (sub-continent) origin. In the blood circulation of affected individuals, as red blood cells release their oxygen to the tissues, the deoxygenated sickle hemoglobin molecules begin to aggregate, literally freezing the cells into stiff, sticky crescent-like shapes resulting in blockage of blood vessels and severe pain. Other problems can develop such as chronic anemia, organ damage, infection, stroke, acute chest syndrome, and leg ulcers. No universal cure for SCD has been developed, but treatment for symptoms and complications is available.
Types of Sickle Cell Disease
Parents transmit SCD and SCT to their children in an autosomal recessive manner (see ). In the common form of the disease, the sickle cell gene (β6glu->val
) encodes an abnormal hemoglobin (hemoglobin S) and is inherited from both biological parents. In other SCD variants, the child inherits a sickle hemoglobin gene from one parent, and another abnormal hemoglobin gene from the other parent (see for examples). People who have SCT do not have SCD and usually do not have symptoms because they inherit one normal gene from one of their parents. Hemoglobin electrophoresis, isoelectric focusing and high performance liquid chromatography (Pack-Mabien & Haynes, 2009
; SCDAA, n.d.
), and used less commonly, DNA-based testing (Wethers, 2000
) can determine a person’s sickle cell status.
Figure 1 Example of a Punnett Square probability for a couple at risk for a child with SCD and other hemoglobin variants (X). If both parents have SCT (AS), or if one parent has SCT and the other parent has another hemoglobinopathy trait (AX), then with each pregnancy, (more ...)
In the United States, all states and the District of Columbia test infants for SCD through newborn screening (NBS) programs (genes-r-us.uthscsa.edu). Because young children with SCD are susceptible to life threatening infections, NBS for SCD is intended to identify infants who would benefit from early treatment with penicillin and close monitoring of symptoms to prevent complications (Pass et al., 2000
). But screening for SCD also identifies infants who have SCT, who are generally asymptomatic and may not benefit early in life from knowing their sickle cell status (Miller et al., 2009; Pass et al.), especially before they become sexually active. Parents, too, may benefit from knowing the results of screening for SCT and being offered relevant information, education and counseling to increase their understanding of SCD inheritance as they consider future reproductive decisions.
With improved diagnosis and health care, many more children with SCD now grow into adulthood, where they, as well as people with the trait, face serious decisions surrounding childbearing. Pregnancies might occur with little forethought or opportunity to make well-informed reproductive health decisions which, as found in previous studies (Acharya, Lang & Ross, 2009
; Gallo et al., 2008
), are likely related to insufficient or incorrect knowledge about the transmission of inherited conditions including SCD or SCT.
Reproductive health decisions and behaviors are complex and have been studied extensively in adolescents and adults (Ahluwalia, Johnson, Rogers, & Melvin, 1999
; Joyce, Kaestner, & Korenman, 2002
). However, there are few studies published to date about people with SCD or SCT and their intentions to become a parent (Asgharian & Anie, 2003
). People with the SCD or SCT have the options to not have a child, to have a child with or without SCD or SCT, or to seek other non-childbearing options such as parenting an unaffected, non-biological child (e.g., foster, adopt). The decision to have children is influenced by people’s knowledge of the genetic transmission of SCD or SCT and their perceptions of the disease severity and risks of pregnancy to the mother, as well as the people’s attitudes and beliefs about preserving the family genetic heritage (Asgharian & Anie). An approach to encourage informed reproductive health decisions by people with SCD or SCT is to enhance their reproductive health knowledge with tailored information so that their reproductive health behaviors are consistent with their reproductive health intentions.
We are conducting a study of adults with SCD or SCT using a new web-based, tailored, multimedia education program about the disease and trait, health consequences, and reproductive options (citation blinded for review). The educational program is designed to help men and women with SCD or SCT implement a parenting plan that will support their informed reproductive health decisions and reproductive health behaviors.
To prepare for the larger study, focus groups were conducted with adult women and men with SCD or SCT. Whereas the intent of the focus groups was to ensure that the questionnaires and the educational intervention would be sensitive, effective, relevant, clear, and culturally appropriate for the intended population, the focus groups also elicited beliefs, attitudes, and personal feelings surrounding SCD or SCT and reproductive decisions. Therefore, the purpose of this analysis was to examine the beliefs, attitudes and personal feelings of people with SCD or SCT related to making informed reproductive health decisions.