Monitoring and interventions of growth disorders and endocrine function in children with transfusion-dependent thalassemia

FAN Xin; HUANG Yi-Yun

doi:10.7499/j.issn.1008-8830.2501080

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Chinese Journal of Contemporary Pediatrics ›› 2025, Vol. 27 ›› Issue (4) : 389-394. DOI: 10.7499/j.issn.1008-8830.2501080

SERIES REVIEW—DIAGNOSIS AND TREATMENT OF GROWTH DISORDERS

Monitoring and interventions of growth disorders and endocrine function in children with transfusion-dependent thalassemia

FAN Xin, HUANG Yi-Yun

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Abstract

Transfusion-dependent thalassemia (TDT) is a severe genetic chronic hemolytic disease, and growth retardation is a common clinical feature in patients with TDT. Due to the need for regular blood transfusions, these patients often experience iron overload, which leads to various endocrine dysfunctions, including abnormalities in the growth hormone/insulin-like growth factor axis, hypothyroidism, hypoparathyroidism, hypogonadism, adrenal insufficiency, and decreased bone density. This paper reviews the clinical monitoring and intervention measures for growth disorders and related endocrine functions in patients with TDT, providing references for clinicians.

Key words

Thalassemia / Endocrine dysfunction / Growth and development / Iron overload / Recombinant human growth hormone

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FAN Xin, HUANG Yi-Yun. Monitoring and interventions of growth disorders and endocrine function in children with transfusion-dependent thalassemia[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(4): 389-394 https://doi.org/10.7499/j.issn.1008-8830.2501080

References

1 广东省地中海贫血防治协会, 《中国实用儿科杂志》编辑委员会. 儿童非输血依赖型地中海贫血的诊治和管理专家共识[J]. 中国实用儿科杂志, 2018, 33(12): 929-934. DOI: 10.19538/j.ek2018120601.
2 中国输血协会免疫血液学专业委员会. 输血依赖型地中海贫血（TDT）患者临床输血中国专家共识[J]. 临床输血与检验, 2023, 25(2): 163-169. DOI: 10.3969/j.issn.1671-2587.2023.02.002.
3 Tuo Y, Li Y, Li Y, et al. Global, regional, and national burden of thalassemia, 1990-2021: a systematic analysis for the global burden of disease study 2021[J]. EClinicalMedicine, 2024, 72: 102619. PMID: 38745964. PMCID: PMC11090906. DOI: 10.1016/j.eclinm.2024.102619.
4 中华医学会血液学分会红细胞疾病（贫血）学组. 中国输血依赖型β地中海贫血诊断与治疗指南（2022年版）[J]. 中华血液学杂志, 2022, 43(11): 889-896. DOI: 10.3760/cma.j.issn.0253-2727.2022.11.002.
5 Arab-Zozani M, Kheyrandish S, Rastgar A, et al. A systematic review and meta-analysis of stature growth complications in β-thalassemia major patients[J]. Ann Glob Health, 2021, 87(1): 48. PMID: 34164261. PMCID: PMC8194969. DOI: 10.5334/aogh.3184.
6 Y?lmaz K, Kan A, ?etincakmak MG, et al. Relationship between pituitary siderosis and endocrinological disorders in pediatric patients with beta-thalassemia[J]. Cureus, 2021, 13(1): e12877. PMID: 33633906. PMCID: PMC7899051. DOI: 10.7759/cureus.12877.
7 Carsote M, Vasiliu C, Trandafir AI, et al. New entity-thalassemic endocrine disease: major beta-thalassemia and endocrine involvement[J]. Diagnostics (Basel), 2022, 12(8): 1921. PMID: 36010271. PMCID: PMC9406368. DOI: 10.3390/diagnostics12081921.
8 Taher AT, Saliba AN. Iron overload in thalassemia: different organs at different rates[J]. Hematology Am Soc Hematol Educ Program, 2017, 2017(1): 265-271. PMID: 29222265. PMCID: PMC6142532. DOI: 10.1182/asheducation-2017.1.265.
9 Kyriakou A, Skordis N. Thalassaemia and aberrations of growth and puberty[J]. Mediterr J Hematol Infect Dis, 2009, 1(1): e2009003. PMID: 21415985. PMCID: PMC3033154. DOI: 10.4084/MJHID.2009.003.
10 Dixit N, Shaw CK, Varshney GA, et al. Endocrinal complications in children and adolescents with thalassemia major in central India: an observational study[J]. Indian J Pediatr, 2022, 89(10): 983-988. PMID: 34480715. DOI: 10.1007/s12098-021-03883-6.
11 Cahyadi A, Ugrasena IDG, Andarsini MR, et al. Relationship between serum ferritin and growth status of pediatric transfusion dependent thalassemia[J]. Caspian J Intern Med, 2023, 14(3): 425-432. PMID: 37520873. PMCID: PMC10379800. DOI: 10.22088/cjim.14.3.425.
12 Mohajeri-Tehrani MR, Alemzadeh SA, Marzbali FA, et al. How age, sex and transfusion affects the incidence of endocrine and bone density disorders in major thalassemic patients[J]. Iran J Public Health, 2024, 53(2): 433-442. PMID: 38894828. PMCID: PMC11182464. DOI: 10.18502/ijph.v53i2.14928.
13 De Sanctis V, Skordis N, Soliman AT, et al. Endocrine disease[M]//Cappellini MD, Cohen A, Porter J, et al. Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT) [Internet]. 3rd ed. Nicosia (CY): Thalassaemia International Federation.
14 Borgna-Pignatti C, Gamberini MR. Complications of thalassemia major and their treatment[J]. Expert Rev Hematol, 2011, 4(3): 353-366. PMID: 21668399. DOI: 10.1586/ehm.11.29.
15 Skordis N, Kyriakou A. The multifactorial origin of growth failure in thalassaemia[J]. Pediatr Endocrinol Rev, 2011, 8 Suppl 2: 271-277.
16 Ali S, Mumtaz S, Shakir HA, et al. Current status of beta-thalassemia and its treatment strategies[J]. Mol Genet Genomic Med, 2021, 9(12): e1788. PMID: 34738740. PMCID: PMC8683628. DOI: 10.1002/mgg3.1788.
17 Rasel M, Hashmi MF, Mahboobi SK. Transfusion Iron Overload[M]//StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing, 2024.
18 陈狄禹, 孙筱放. 铁代谢对于β地中海贫血表型的修饰作用的研究进展[J]. 中华医学遗传学杂志, 2021, 38(1): 27-31. PMID: 33423253. DOI: 10.3760/cma.j.cn511374-20190819-00418.
19 Farmakis D, Porter J, Taher A, et al. 2021 Thalassaemia International Federation guidelines for the management of transfusion-dependent thalassemia[J]. HemaSphere, 2022, 6(8): e732. PMID: 35928543. PMCID: PMC9345633. DOI: 10.1097/HS9.0000000000000732.
20 Delvecchio M, Cavallo L. Growth and endocrine function in thalassemia major in childhood and adolescence[J]. J Endocrinol Invest, 2010, 33(1): 61-68. PMID: 20203539. DOI: 10.1007/BF03346551.
21 Hajimoradi M, Haseli S, Abadi A, et al. Musculoskeletal imaging manifestations of beta-thalassemia[J]. Skeletal Radiol, 2021, 50(9): 1749-1762. PMID: 33559685. DOI: 10.1007/s00256-021-03732-9.
22 Vidal A, Dhakal C. Association of beta-thalassaemia and hypogonadotropic hypogonadism[J]. Case Rep Obstet Gynecol, 2022, 2022: 4655249. PMID: 35646403. PMCID: PMC9135550. DOI: 10.1155/2022/4655249.
23 Bedrick BS, Kohn TP, Pecker LH, et al. Fertility preservation for pediatric patients with hemoglobinopathies: multidisciplinary counseling needed to optimize outcomes[J]. Front Endocrinol (Lausanne), 2022, 13: 985525. PMID: 36353243. PMCID: PMC9638952. DOI: 10.3389/fendo.2022.985525.
24 Casale M, Baldini MI, Del Monte P, et al. Good clinical practice of the Italian Society of Thalassemia and Haemoglobinopathies (SITE) for the management of endocrine complications in patients with haemoglobinopathies[J]. J Clin Med, 2022, 11(7): 1826. PMID: 35407442. PMCID: PMC8999784. DOI: 10.3390/jcm11071826.
25 De Sanctis V, Soliman AT, Elsedfy H, et al. Growth and endocrine disorders in thalassemia: the international network on endocrine complications in thalassemia (I-CET) position statement and guidelines[J]. Indian J Endocrinol Metab, 2013, 17(1): 8-18. PMID: 23776848. PMCID: PMC3659911. DOI: 10.4103/2230-8210.107808.
26 Voskaridou E, Terpos E, Taher A. Osteoporosis[M]//Cappellini MD, Cohen A, Porter J, et al. Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT) [Internet]. 3rd ed. Nicosia (CY): Thalassaemia International Federation.
27 Langer AL. Beta-Thalassemia[M]//Adam MP, Feldman J, Mirzaa GM, et al. GeneReviews? [Internet]. Seattle (WA): University of Washington, Seattle, 2000.
28 Ngim CF, Lai NM, Hong JY, et al. Growth hormone therapy for people with thalassaemia[J]. Cochrane Database Syst Rev, 2020, 5(5): CD012284. PMID: 32463488. PMCID: PMC7387677. DOI: 10.1002/14651858.CD012284.pub3.
29 中华医学会儿科学分会内分泌遗传代谢学组. 中国儿童生长激素缺乏症诊治指南[J]. 中华儿科杂志, 2024, 62(1): 5-11. PMID: 38154971. DOI: 10.3760/cma.j.cn112140-20230914-00183.
30 李晶洁, 方丛, 李满超, 等. 造血干细胞移植术后的重度β地中海贫血患者自体移植冻融卵巢组织诱导青春期发育成功病例1例并文献复习[J]. 中华生殖与避孕杂志, 2022, 42(11): 1187-1191. DOI: 10.3760/cma.j.cn101441-20220730-00318.
31 林嘉雨, 方丛, 廖建云, 等. 青春期前重度地中海贫血患者生育力保存病例1例并文献复习[J]. 中华生殖与避孕杂志, 2022, 42(2): 183-187. DOI: 10.3760/cma.j.cn101441-20200709-00388.
32 Faulkner L, Uderzo C, Khalid S, et al. ATG vs thiotepa with busulfan and cyclophosphamide in matched-related bone marrow transplantation for thalassemia[J]. Blood Adv, 2017, 1(13): 792-801. PMID: 29296723. PMCID: PMC5727808. DOI: 10.1182/bloodadvances.2016004119.
33 Locatelli F, Lang P, Wall D, et al. Exagamglogene autotemcel for transfusion-dependent β-thalassemia[J]. N Engl J Med, 2024, 390(18): 1663-1676. PMID: 38657265. DOI: 10.1056/NEJMoa2309673.