Desire for biological parenthood and patient counseling on the risk of infertility among adolescents and adults with hemoglobinopathies

Abstract

Background Both diagnosis and treatment of hemoglobinopathies have been associated with an increased risk of fertility impairment. German guidelines recommend annual monitoring of fertility parameters to enable early detection of fertility impairment and/or to offer fertility preservation (FP) when indicated. We explored the general desire for parenthood, the frequency of recalling fertility counseling and testing, and the utilization of FP in adolescents and adults with hemoglobinopathies. Procedure In a cross‐sectional study, patients aged 12–50 years, treated in Germany, Austria, or Switzerland, were surveyed on fertility‐related aspects. Medical data, including fertility testing results, were collected from patient records. Results Overall, 116/121 eligible patients, diagnosed with sickle cell disease (70.7%), thalassemia (27.6%), or other hemoglobinopathy (1.7%), participated in our study (57.8% female, median age 17.0 years, range 12–50 years). All participants required treatment of the underlying hemoglobinopathy: 68.1% received hydroxyurea, 25.9% required regular blood transfusions, and 6.0% underwent hematopoietic stem cell transplantation (HSCT). Most patients (82/108, 75.9%) stated a considerable to strong desire for (future) parenthood, independent of sex, education, diagnosis, or subjective health status. Fertility counseling was only recalled by 32/111 patients (28.8%) and least frequently by younger patients (12–16 years) or those treated with regular blood transfusions or hydroxyurea. While fertility testing was documented for 59.5% (69/116) in medical records, only 11.6% (13/112) recalled previous assessments. FP was only used by 5.4% (6/111) of patients. Conclusion Most patients with hemoglobinopathies wish to have biological children, yet only few recalled fertility counseling and testing. Adequate patient counseling should be offered to all patients at risk for infertility.

Current Status of Fertility Preservation in Pediatric Oncology Patients

“…The survival rate of children and adolescents with cancer is increasing and obliges us to provide the care that these patients need once they have overcome the disease. In this sense, fertility preservation is an aspect that should be considered very carefully by the centers that take care of this type of patient [46], because many of the surviving children will grow up and probably want to have natural children [5].…”

“…For many adults, parenthood is a significant life goal. However, individuals who have battled childhood cancer may face obstacles in achieving this goal due to the toxic effects of their treatment [5]. This issue has garnered increasing attention in recent times, leading to a surge in research endeavors in pediatric patients that have contributed to deepening our comprehension of protective methods and the transfer of cryopreserved tissue.…”

Experiences and outcomes of fertility testing in male adolescents with sickle cell disease

“…There are numerous reproductive healthcare considerations specific to sickle cell disease (SCD), [1][2][3] and the potential impact of SCD and hydroxyurea on fertility is particularly salient. 4,5 The majority of individuals with SCD in high-resource settings are surviving into adulthood, [6][7][8] hydroxyurea use is expanding worldwide, 9 most adolescents with SCD desire future biological parenthood, 5,10 and fertility testing and preservation methods are available but not currently integrated into standard clinical care. 11 Recent research in small cohorts show adult males with SCD who are treated and untreated with hydroxyurea have abnormal semen parameters, raising the concern that SCD and/or hydroxyurea may impact fertility.…”

Comment on: Infertility and treatment‐seeking practices among females and males with sickle cell disease in the Sickle Cell Disease Implementation Consortium registry

“…1,8 Second, sample characteristics (77% unmarried; 55% aged 18-29 years) suggest some participants classified as "fertile" may not have attempted to conceive and may not have known if their fertility was impaired (which could underestimate infertility in the sample). For instance, 15%-33% of adolescents and young adults with SCD report they do not desire biological parenthood [9][10][11] and may not attempt it, at least not in early adulthood. Also, in the most recent National Inpatient Sample, the average age of pregnancy in women with SCD pregnancy was 27 years and did not differ from unaffected Black women.…”

“…12 While the average age of first paternity in SCD is not established, paternity appears to be low in a recent publication. 13 Finally, Stevenson et al cite a single, population-based infertility study to provide relative context of the problem, 9 whereas more contemporary data show that infertility rates among married/cohabiting women in the general population may be only 5%-8%. 10 To conclude, we commend Stevenson et al for this hypothesisgenerating work and agree "a fuller understanding of infertility and SCD in the United States may contribute to more patient-centered, robust fertility care for persons with SCD who seek genetic parenthood."…”