Desire for biological parenthood and patient counseling on the risk of infertility among adolescents and adults with hemoglobinopathies.
congenital anemias
fertility impairment
fertility preservation
hemoglobinopathies
parenthood
patient counseling
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
07 2023
07 2023
Historique:
revised:
04
03
2023
received:
01
02
2023
accepted:
26
03
2023
medline:
25
5
2023
pubmed:
15
4
2023
entrez:
14
4
2023
Statut:
ppublish
Résumé
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.
Sections du résumé
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.
Substances chimiques
Hydroxyurea
X6Q56QN5QC
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e30359Informations de copyright
© 2023 The Authors. Pediatric Blood & Cancer published by Wiley Periodicals LLC.
Références
Quinn CT, Rogers ZR, McCavit TL, Buchanan GR. Improved survival of children and adolescents with sickle cell disease. Blood. 2010;115(17):3447-3452. doi:10.1182/blood-2009-07-233700
Borgna-Pignatti C, Rugolotto S, De Stefano P, et al. Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine. Haematologica. 2004;89(10):1187-1193.
Ansari-Moghaddam A, Adineh HA, Zareban I, Mohammadi M, Maghsoodlu M. The survival rate of patients with beta-thalassemia major and intermedia and its trends in recent years in Iran. Epidemiol Health. 2018;40:e2018048. doi:10.4178/epih.e2018048
Colombatti R, Casale M, Russo G. Disease burden and quality of life of in children with sickle cell disease in Italy: time to be considered a priority. Ital J Pediatr. 2021;47(1):163. doi:10.1186/s13052-021-01109-1
Osunkwo I, Andemariam B, Minniti CP, et al. Impact of sickle cell disease on patients' daily lives, symptoms reported, and disease management strategies: results from the international Sickle Cell World Assessment Survey (SWAY). Am J Hematol. 2021;96(4):404-417. doi:10.1002/ajh.26063
Nahata L, Caltabellotta NM, Ball K, O'Brien SH, Creary SE. Desire for parenthood and reproductive health knowledge in adolescents and young adults with sickle cell disease and their caregivers. Pediatr Blood Cancer. 2018;65(2):e26829. doi:10.1002/pbc.26829
Bernaudin F, Dalle JH, Bories D, et al. Long-term event-free survival, chimerism and fertility outcomes in 234 patients with sickle-cell anemia younger than 30 years after myeloablative conditioning and matched-sibling transplantation in France. Haematologica. 2020;105(1):91-101. doi:10.3324/haematol.2018.213207
Caocci G, Orofino MG, Vacca A, et al. Long-term survival of beta thalassemia major patients treated with hematopoietic stem cell transplantation compared with survival with conventional treatment. Am J Hematol. 2017;92(12):1303-1310. doi:10.1002/ajh.24898
Pfitzer C, Orawa H, Balcerek M, et al. Dynamics of fertility impairment and recovery after allogeneic haematopoietic stem cell transplantation in childhood and adolescence: results from a longitudinal study. J Cancer Res Clin Oncol. 2015;141(1):135-142. doi:10.1007/s00432-014-1781-5
Elchuri SV, Williamson Lewis R, Quarmyne MO, Haight AE, Cottrell HN, Meacham LR. Longitudinal description of gonadal function in sickle-cell patients treated with hematopoietic stem cell transplant using alkylator-based conditioning regimens. J Pediatr Hematol Oncol. 2020;42(7):e575-e582. doi:10.1097/mph.0000000000001782
Brachet C, Heinrichs C, Tenoutasse S, Devalck C, Azzi N, Ferster A. Children with sickle cell disease: growth and gonadal function after hematopoietic stem cell transplantation. J Pediatr Hematol Oncol. 2007;29(7):445-450. doi:10.1097/MPH.0b013e31806451ac
Pecker LH, Sharma D, Nero A, et al. Knowledge gaps in reproductive and sexual health in girls and women with sickle cell disease. Br J Haematol. 2021;194(6):970-979. doi:10.1111/bjh.17658
Pecker LH, Hussain S, Christianson MS, Lanzkron S. Hydroxycarbamide exposure and ovarian reserve in women with sickle cell disease in the multicenter study of hydroxycarbamide. Br J Haematol. 2020;191(5):880-887. doi:10.1111/bjh.16976
Pecker LH, Hussain S, Mahesh J, Varadhan R, Christianson MS, Lanzkron S. Diminished ovarian reserve in young women with sickle cell anemia. Blood. 2022;139(7):1111-1115. doi:10.1182/blood.2021012756
Kopeika J, Oyewo A, Punnialingam S, et al. Ovarian reserve in women with sickle cell disease. PLoS One. 2019;14(2):e0213024. doi:10.1371/journal.pone.0213024
Berthaut I, Guignedoux G, Kirsch-Noir F, et al. Influence of sickle cell disease and treatment with hydroxyurea on sperm parameters and fertility of human males. Haematologica. 2008;93(7):988-993. doi:10.3324/haematol.11515
Chen MJ, Peng SS, Lu MY, et al. Effect of iron overload on impaired fertility in male patients with transfusion-dependent beta-thalassemia. Pediatr Res. 2018;83(3):655-661. doi:10.1038/pr.2017.296
Singer ST, Sweeters N, Vega O, Higa A, Vichinsky E, Cedars M. Fertility potential in thalassemia major women: current findings and future diagnostic tools. Ann N Y Acad Sci. 2010;1202:226-230. doi:10.1111/j.1749-6632.2010.05583.x
Singer ST, Killilea D, Suh JH, et al. Fertility in transfusion-dependent thalassemia men: effects of iron burden on the reproductive axis. Am J Hematol. 2015;90(9):E190-E192. doi:10.1002/ajh.24083
Berthaut I, Bachir D, Kotti S, et al. Adverse effect of hydroxyurea on spermatogenesis in patients with sickle cell anemia after 6 months of treatment. Blood. 2017;130(21):2354-2356. doi:10.1182/blood-2017-03-771857
Elchuri SV, Williamson RS, Clark Brown R, et al. The effects of hydroxyurea and bone marrow transplant on anti-Mullerian hormone (AMH) levels in females with sickle cell anemia. Blood Cells Mol Dis. 2015;55(1):56-61. doi:10.1016/j.bcmd.2015.03.012
Talaulikar VS, Bajoria R, Ehidiamhen AJ, Mujawar E, Chatterjee RA. 10-year longitudinal study of evaluation of ovarian reserve in women with transfusion-dependent beta thalassaemia major. Eur J Obstet Gynecol Reprod Biol. 2019;238:38-43. doi:10.1016/j.ejogrb.2019.04.046
Taddesse A, Woldie IL, Khana P, et al. Hypogonadism in patients with sickle cell disease: central or peripheral? Acta Haematol. 2012;128(2):65-68. doi:10.1159/000337344
Joseph L, Jean C, Manceau S, et al. Effect of hydroxyurea exposure before puberty on sperm parameters in males with sickle cell disease. Blood. 2021;137(6):826-829. doi:10.1182/blood.2020006270
Gesellschaft für Pädiatrische Onkologie und Hämatologie. S2k-Leitlinie Diagnostik und Therapie der sekundären Eisenüberladung bei Patienten mit angeborenen Anämien. Updated February 28, 2022. Accessed September 29, 2022. https://www.awmf.org/leitlinien/detail/ll/025-029.html
Gesellschaft für Pädiatrische Onkologie und Hämatologie. AWMF-S2k-Leitlinie 025/016 "Sichelzellkrankheit." Updated July 2, 2020. Accessed January 16, 2023, https://www.awmf.org/leitlinien/detail/ll/025-016.html
Gesellschaft für Pädiatrische Onkologie und Hämatologie. Leitlinie AWMF 025/017 Thalassämie. Updated July 14, 2016. Accessed January 16, 2023, https://register.awmf.org/de/leitlinien/detail/025-017
Lavery SA, Islam R, Hunt J, Carby A, Anderson RA. The medical and ethical challenges of fertility preservation in teenage girls: a case series of sickle cell anaemia patients prior to bone marrow transplant. Hum Reprod. 2016;31(7):1501-1507. doi:10.1093/humrep/dew084
Jadoul P, Dolmans MM, Donnez J. Fertility preservation in girls during childhood: is it feasible, efficient and safe and to whom should it be proposed? Hum Reprod Update. 2010;16(6):617-630. doi:10.1093/humupd/dmq010
Dovey S, Krishnamurti L, Sanfilippo J, et al. Oocyte cryopreservation in a patient with sickle cell disease prior to hematopoietic stem cell transplantation: first report. J Assist Reprod Genet. 2012;29(3):265-269. doi:10.1007/s10815-011-9698-2
Mamsen LS, Kristensen SG, Pors SE, et al. Consequences of β-thalassemia or sickle cell disease for ovarian follicle number and morphology in girls who had ovarian tissue cryopreserved. Front Endocrinol (Lausanne). 2020;11:593718. doi:10.3389/fendo.2020.593718
Matthews SJ, Picton H, Ernst E, Andersen CY. Successful pregnancy in a woman previously suffering from β-thalassemia following transplantation of ovarian tissue cryopreserved before puberty. Minerva Ginecol. 2018;70(4):432-435. doi:10.23736/s0026-4784.18.04240-5
Borgström B, Fridström M, Gustafsson B, Ljungman P, Rodriguez-Wallberg KA. A prospective study on the long-term outcome of prepubertal and pubertal boys undergoing testicular biopsy for fertility preservation prior to hematologic stem cell transplantation. Pediatr Blood Cancer. 2020;67(9):e28507. doi:10.1002/pbc.28507
Nickel RS, Maher JY, Hsieh MH, Davis MF, Hsieh MM, Pecker LH. Fertility after curative therapy for sickle cell disease: a comprehensive review to guide care. J Clin Med. 2022;11(9):2318. doi:10.3390/jcm11092318
Nahata L, Stanek CJ, Theroux CI, Olsavsky AL, Quinn GP, Creary SE. Fertility testing knowledge and attitudes in male adolescents and young adults with SCD and their caregivers: a pilot study. Blood Adv. 2022;6(12):3703-3706. doi:10.1182/bloodadvances.2022007004
Smith-Whitley K. Reproductive issues in sickle cell disease. Blood. 2014;124(24):3538-3543. doi:10.1182/blood-2014-07-577619
Female age-related fertility decline. Committee Opinion No. 589. Fertil Steril. 2014;101(3):633-634. doi:10.1016/j.fertnstert.2013.12.032
Palacios S, Henderson VW, Siseles N, Tan D, Villaseca P. Age of menopause and impact of climacteric symptoms by geographical region. Climacteric. 2010;13(5):419-428. doi:10.3109/13697137.2010.507886
Gottschalk MS, Eskild A, Hofvind S, Gran JM, Bjelland EK. Temporal trends in age at menarche and age at menopause: a population study of 312 656 women in Norway. Hum Reprod. 2020;35(2):464-471. doi:10.1093/humrep/dez288
Korte E, Schilling R, Balcerek M, et al. Fertility education for adolescent cancer patients: gaps in current clinical practice in Europe. Eur J Cancer Care (Engl). 2020;29(5):e13279. doi:10.1111/ecc.13279
Rendtorff R, Hohmann C, Reinmuth S, et al. Hormone and sperm analyses after chemo- and radiotherapy in childhood and adolescence. Klin Padiatr. 2010;222(3):145-149. doi:10.1055/s-0030-1249658
Reinmuth S, Liebeskind AK, Wickmann L, et al. Having children after surviving cancer in childhood or adolescence - results of a Berlin survey. Klin Padiatr. 2008;220(3):159-165. doi:10.1055/s-2008-1073143
Korte E, Schilling R, Balcerek M, et al. Fertility-related wishes and concerns of adolescent cancer patients and their parents. J Adolesc Young Adult Oncol. 2020;9(1):55-62. doi:10.1089/jayao.2019.0064
Hohmann C, Borgmann-Staudt A, Rendtorff R, et al. Patient counselling on the risk of infertility and its impact on childhood cancer survivors: results from a national survey. J Psychosoc Oncol. 2011;29(3):274-285. doi:10.1080/07347332.2011.563344
Die Konzeptualisierung SS, Erhebung und Kodierung von Bildung in nationalen und internationalen Umfragen. Mannheim, GESIS - Leibniz-Institut für Sozialwissenschaften (GESIS Survey Guidelines). 2016. doi:10.15465/10.15465/gesis-sg_020-1
Kattamis A, Forni GL, Aydinok Y, Viprakasit V. Changing patterns in the epidemiology of β-thalassemia. Eur J Haematol. 2020;105(6):692-703. doi:10.1111/ejh.13512
Inusa BPD, Colombatti R. European migration crises: the role of national hemoglobinopathy registries in improving patient access to care. Pediatr Blood Cancer. 2017;64(7):e26515. doi:10.1002/pbc.26515
Aguilar Martinez P, Angastiniotis M, Eleftheriou A, et al. Haemoglobinopathies in Europe: health & migration policy perspectives. Orphanet J Rare Dis. 2014;9:97. doi:10.1186/1750-1172-9-97
Vadaparampil S, Quinn G, King L, Wilson C, Nieder M. Barriers to fertility preservation among pediatric oncologists. Patient Educ Couns. 2008;72(3):402-410. doi:10.1016/j.pec.2008.05.013
Borgmann-Staudt A, Kunstreich M, Schilling R, et al. Fertility knowledge and associated empowerment following an educational intervention for adolescent cancer patients. Psychooncology. 2019;28(11):2218-2225. doi:10.1002/pon.5210
Early ML, Strodel RJ, Lake IV, et al. Acceptable, hopeful, and useful: development and mixed-method evaluation of an educational tool about reproductive options for people with sickle cell disease or trait. J Assist Reprod Genet. 2022;39(1):183-193. doi:10.1007/s10815-021-02358-z
Joshi S, Savani BN, Chow EJ, et al. Clinical guide to fertility preservation in hematopoietic cell transplant recipients. Bone Marrow Transplant. 2014;49(4):477-484. doi:10.1038/bmt.2013.211
Meacham LR, Pecker LH, Gee B, Mishkin A. Incorporating gonadal health counseling into pediatric care of sickle cell patients. Hematology Am Soc Hematol Educ Program. 2022;2022(1):442-449. doi:10.1182/hematology.2022000382
Masood J, Hafeez A, Hughes A, Barua JM. Hydroxyurea therapy: a rare cause of reversible azoospermia. Int Urol Nephrol. 2007;39(3):905-907. doi:10.1007/s11255-006-9107-4