Department of Pediatric Oncology and Hematology, Charité-Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Division of Pediatric Hematology and Oncology, University Children's Hospital Basel, Basel, Switzerland.
Pediatr Blood Cancer. 2023 Jul;70(7):e30359. doi: 10.1002/pbc.30359. Epub 2023 Apr 14.
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.
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.
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.
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.
血红蛋白病的诊断和治疗都与生育能力受损的风险增加有关。德国指南建议每年监测生育参数，以便早期发现生育能力受损，并在需要时提供生育力保存（FP）。我们探讨了患有血红蛋白病的青少年和成年人的一般生育意愿、回忆生育咨询和检测的频率，以及 FP 的利用情况。
在一项横断面研究中，对在德国、奥地利或瑞士接受治疗的 12-50 岁患者进行了生育相关方面的调查。从患者记录中收集了包括生育能力检测结果在内的医疗数据。
共有 116/121 名符合条件的患者（70.7%为镰状细胞病、27.6%为地中海贫血症或其他血红蛋白病）参与了我们的研究（57.8%为女性，中位年龄 17.0 岁，范围 12-50 岁）。所有患者均需要治疗基础血红蛋白病：68.1%接受羟基脲治疗，25.9%需要定期输血，6.0%接受造血干细胞移植（HSCT）。大多数患者（82/108，75.9%）表示有相当大或强烈的生育（未来）意愿，与性别、教育、诊断或主观健康状况无关。只有 32/111 名患者（28.8%）回忆起生育咨询，且回忆率最低的是年龄较小的患者（12-16 岁）或接受定期输血或羟基脲治疗的患者。尽管医疗记录中记录了 59.5%（69/116）的生育能力检测，但只有 11.6%（13/112）回忆起以前的评估。只有 5.4%（6/111）的患者使用了 FP。
大多数血红蛋白病患者希望拥有亲生子女，但只有少数人回忆起生育咨询和检测。应向所有有生育能力受损风险的患者提供适当的患者咨询。
