The Analysis Study of Prevalence, Management and Outcome of Thalassemia in Children : A Comprehensive Systematic Review

The Analysis Study of Prevalence, Management and Outcome of Thalassemia in Children : A Comprehensive Systematic Review

Authors

  • Muhammad Irwanto General Practitioner, HJ. Fatimah Sulhan PKU Demak General Hospital, Demak Regency, Central Java, Indonesia
  • Khoirunnida Faculty of Medicine, Sultan Agung Islamic University, Semarang, Central Java, Indonesia
  • Kartika Istiningtyas Pediatric Consultant, HJ. Fatimah Sulhan PKU Demak General Hospital, Demak Regency, Central Java, Indonesia

Keywords:

Thalassemia, children, mutation, hemoglobin

Abstract

Background: Thalassemia is an inherited autosomal recessive disease resulting from mutations in the α- and β-globin gene clusters on chromosome 16 and chromosome 11, respectively. The aim of this study to show about prevalence, management and outcome of thalassemia in children. Methods: By the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) 2020, this study was able to show that it met all of the requirements. Result: Eight publications were found to be directly related to our ongoing systematic examination after a rigorous three-level screening approach. Subsequently, a comprehensive analysis of the complete text was conducted, and additional scrutiny was given to these articles. Conclusion: The prevalence and gene mutation spectrum of thalassemia display obviously heterogeneity among children. The findings provide the valuable information for premarital and pre-pregnancy screening, prenatal diagnostic services, and designing appropriate prevention programs to control thalassemia for future.

References

Bajwa H, Basit H. Thalassemia [Internet]. StatPearls. 2024. Available from: http://www.ncbi.nlm.nih.gov/pubmed/31119181

Hossain MS, Raheem E, Sultana TA, Ferdous S, Nahar N, Islam S, et al. Thalassemias in South Asia: clinical lessons learnt from Bangladesh. Orphanet J Rare Dis. 2017;12(1):1–9.

Farmakis D, Porter J, Taher A, Cappellini MD, Angastiniotis M, Eleftheriou A, et al. 2021 Thalassaemia International Federation Guidelines for the Management of Transfusion-dependent Thalassemia. HemaSphere. 2022;6(8).

Goh LPW, Chong ETJ, Lee PC. Prevalence of alpha(α)-thalassemia in Southeast Asia (2010–2020): A meta-analysis involving 83,674 subjects. Int J Environ Res Public Health. 2020;17(20):1–11.

Yousuf R, Akter S, Wasek SM, Sinha S, Ahmad R, Haque M. Thalassemia: A Review of the Challenges to the Families and Caregivers. Cureus. 2022;14(12):8–15.

Staikou C, Stavroulakis E, Karmaniolou I. A narrative review of peri-operative management of patients with thalassaemia. Anaesthesia. 2014;69(5):494–510.

Angastiniotis M, Lobitz S. Thalassemias: An overview. Int J Neonatal Screen. 2019;5(1):1–11.

Chonat S, Quinn CT. Current standards of care and long term outcomes for thalassemia and sickle cell disease. Adv Exp Med Biol. 2017;1013:59–87.

Shafie AA, Chhabra IK, Wong JHY, Mohammed NS, Ibrahim HM, Alias H. Health-related quality of life among children with transfusion-dependent thalassemia: A cross-sectional study in Malaysia. Health Qual Life Outcomes. 2020;18(1):1–11.

Seyedifar M, Dorkoosh FA, Hamidieh AA, Naderi M, Karami H, Karimi M, et al. Health-related quality of life and health utility values in beta thalassemia major patients receiving different types of iron chelators in Iran. Int J Hematol Stem Cell Res. 2016;10(4):224–31.

Hakeem GLA, Mousa SO, Moustafa AN, Mahgoob MH, Hassan EE. Health-related quality of life in pediatric and adolescent patients with transfusion-dependent ß-thalassemia in upper Egypt (single center study). Health Qual Life Outcomes. 2018;16(1):1–9.

Saleem N, Anwar A, Shahid NUA, Saleem R, Saleem Z, Asghar H, et al. Perception of Parents of Thalassemic Child to Thalassemia in Pakistan. Cureus. 2021;13(8):6–10.

Lee HJ, Shin KH, Kim HH, Yang EJ, Park KH, Kim MJ, et al. Increased prevalence of thalassemia in young people in Korea: Impact of increasing immigration. Ann Lab Med. 2019;39(2):133–40.

Trehan A, Sharma N, Das R, Bansal D, Marwaha RK. Clinicoinvestigational and Demographic Profile of Children with Thalassemia Major. Indian J Hematol Blood Transfus. 2015;31(1):121–6.

Tubman VN, Fung EB, Vogiatzi M, Thompson AA, Rogers ZR, Neufeld EJ, et al. Guidelines for the Standard Monitoring of Patients With Thalassemia. J Pediatr Hematol Oncol. 2015;37(3):e162–9.

Lai K, Huang G, Su L, He Y. The prevalence of thalassemia in mainland China: Evidence from epidemiological surveys. Sci Rep. 2017;7(1):1–11.

Harewood J, Azevedo AM. Alpha Thalassemia [Internet]. StatPearls. 2024. Available from: http://www.ncbi.nlm.nih.gov/pubmed/30673812

MacKenzie TC, Amid A, Angastiniotis M, Butler C, Gilbert S, Gonzalez J, et al. Consensus statement for the perinatal management of patients with a thalassemia major. Blood Adv. 2021;5(24):5636–9.

Fibach E, Rachmilewitz EA. Pathophysiology and treatment of patients with beta-thalassemia - an update. F1000Research. 2017;6(0).

Motiani A, Zubair M, Sonagra AD. Laboratory Evaluation of Alpha Thalassemia [Internet]. StatPearls. 2024. Available from: http://www.ncbi.nlm.nih.gov/pubmed/28651846

Macharia AW, Mochamah G, Makale J, Howard T, Mturi N, Olupot-Olupot P, et al. Case Report: β-thalassemia major on the East African coast. Wellcome Open Res. 2022;7:1–8.

Huang TL, Zhang TY, Song CY, Lin YB, Sang BH, Lei QL, et al. Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province. Front Pediatr. 2020;8(April):1–5.

Xu X, Wu X. Epidemiology and treatment of beta thalassemia major in China. Pediatr Investig. 2020;4(1):43–7.

Lal A, Wong T, Keel S, Pagano M, Chung J, Kamdar A, et al. The transfusion management of beta thalassemia in the United States. Transfusion. 2021;61(10):3027–39.

Pang D, Shang X, Cai D, Yang F, Lu H, Cheng Y, et al. Unusual survival of a twin with homozygous α0-thalassemia due to chimerism. Haematologica. 2021;106(5):1507–10.

Downloads

Published

2024-07-20

How to Cite

Irwanto, Muhammad, Khoirunnida, and Kartika Istiningtyas. 2024. “The Analysis Study of Prevalence, Management and Outcome of Thalassemia in Children : A Comprehensive Systematic Review”. The International Journal of Medical Science and Health Research 2 (1): 39-54. https://internationalmedicaljournal.org/index.php/ijmhsr/article/view/40.