Current Practice in Counseling about Sickle Cell Disease-Modifying Therapy and Sexual and Reproductive Health

Background: Sickle cell disease (SCD) is a genetic hematologic condition affecting individuals worldwide. Advances in therapy and management, including hydroxyurea, have reduced mortality. Clinicians who care for individuals with SCD face challenges in advising patients specifically about the impacts of hydroxyurea, a disease-modifying therapy (DMT), on sexual and reproductive health (SRH). There are currently no standard guidelines for clinicians on the risks and benefits of DMT regarding SRH. This study aims to characterize clinicians’ current attitudes, practices, and barriers/facilitators to initiating and counseling around hydroxyurea use and SRH.

Methods: In a cross-sectional qualitative study, we recruited clinicians caring for people with SCD from a national sample of American Society of Pediatric Hematology and Oncology members. Participants completed in-depth semi-structured interviews. Interviewers collected background information about the clinician and the nature of sickle cell care provided at their center. Topics included questions about clinicians’ current practice in prescribing hydroxyurea and the counseling currently offered or the counseling they would like to provide regarding hydroxyurea and SRH. Interviews were transcribed verbatim and systematically coded using applied thematic analysis in NVivo.

Results: 20 clinicians completed the interview (72% women, 78% White, 61% pediatrics-trained). Participants agreed that the benefits of decreased vaso-occlusive crises and mortality outweigh the risks of hydroxyurea to fertility. Participants also noted reduced morbidity, including decreased priapism frequency, which can lead to impotence and infertility, and reduced symptoms of dysmenorrhea. Participants concurred that counseling around hydroxyurea use varies by age, and no standard guidelines exist. When starting hydroxyurea in infants at nine months of age or at any time throughout childhood, clinicians noted that families are often hesitant at this stage to make decisions about their children that may affect their future. Families may not initiate discussions about their child’s future fertility, but participants agreed that addressing the benefit and risks is essential.

In contrast, clinicians reported that adolescents and young adults with SCD often direct the conversation themselves. The current practice for several participants is to continue hydroxyurea in most males or consider fertility assessment before recommending cessation of therapy, and only if they have had trouble conceiving. All participants agreed that the current practice is to take patients off hydroxyurea if they become pregnant, primarily based on teratogenicity risk and best practices from oncology. Some discussed restarting it later in pregnancy for disease control. Barriers to counseling were time constraints, limited data on whether fertility risks are related to the disease and/or the DMT, lack of standard guidelines on counseling, and sparse resource availability, including multi-disciplinary OB/GYN and genetic counseling support.

Conclusion: Clinicians caring for people with SCD agree that hydroxyurea is a necessary DMT. However, clinicians also recognize the limited data and knowledge regarding the impacts of hydroxyurea on critical topics for individuals with SCD, including fertility and pregnancy. Healthcare providers who treat individuals with SCD should be aware of the unique SRH needs of this population. Further study is needed to identify patient attitudes regarding hydroxyurea and fertility risk and characterize current SRH counseling and practice in emerging disease-modifying therapies, gene therapy, and transplant.