Prevalence of Thalassemia Among Children Aged 0 to 15 Years in Africa from 2007 to 2025: A Systematic Review and Meta-Analysis
Abstract
Thalassemia is a genetic blood disorder that reduces hemoglobin production, leading to anemia and related complications. Thalassemia is widespread in Africa due to factors like historical malaria prevalence, migrations, and genetic factors. In Africa, there are few studies on thalassemia, leading to confusion with sickle cell disease because of a lack of diagnostic tools. Thalassemia remains a major public health issue in the region. This meta-analysis aimed to provide an update on the prevalence of thalassemia in Africa from 2007 to 2025.
A systematic literature search was conducted across the PubMed, AJOL, and Google Scholar databases to identify studies published between 2007 and 2025, using specific inclusion and exclusion criteria. Quality assessment was performed using the Mixed Methods Appraisal Tool (MMAT) for prevalence studies. The heterogeneity of the included studies was assessed using the I2 and Q statistics. Funnel plots and Egger tests were performed to determine publication bias in this meta-analysis. The pooled 95% confidence interval (95% CI) prevalence of thalassemia across studies was determined using a generic random-effects inverse-variance method.
Eleven studies involving 26025 children, including 2889 cases of thalassemia, were included. Prevalence rates were pooled using random-effects models due to high observed heterogeneity (I2 > 75.0%, p-value < 0.05). The overall prevalence of thalassemia was 13.4% (95% CI 8.5-19.1%, I2 = 99.1%). Subgroup analyses showed that the pooled prevalence of thalassemia was 14.0% (95% CI, 0-33%; I² = 98.5%) in newborns, 22.0% (95% CI, 11-33%; I² = 98.8%) in patients ≤ 5 years of age and 6.0% (95% CI, 3.0-9.0%; I² = 82.6%) in patients over 5 years of age. The prevalence of alpha-thalassemia carriers was 18% (95% CI, 7-28%; I² = 99.2%) and beta-thalassemia 9% (95% CI, 6-12%; I² = 98.6%).
This meta-analysis revealed a high prevalence of thalassemia among children aged 0 to 15 years in Africa. The study underscores the importance of screening programs, public awareness campaigns, and genetic counseling services to address thalassemia in Africa. Policy recommendations include implementing national screening programs and increasing healthcare resources to improve early detection and management of thalassemia.
Downloads
PlumX Statistics
References
Angastiniotis, M., & Lobitz, S. (2019). Thalassemias : An Overview. International Journal of Neonatal Screening, 5(1), 16. https://doi.org/10.3390/ijns5010016
Baird, D. C., Batten, S. H., & Sparks, S. K. (2022). Alpha- and Beta-thalassemia : Rapid Evidence Review. American Family Physician, 105(3), 272‑280.
Balduzzi, S., Rücker, G., & Schwarzer, G. (2019). How to perform a meta-analysis with R : A practical tutorial. BMJ Ment Health, 22(4), 153‑160. https://doi.org/10.1136/ebmental-2019-300117
Barker, M. K., Henderson, A. M., Naguib, K., Vercauteren, S. M., Devlin, A. M., Albert, A. Y., Bahizire, E., Tugirimana, P. L., Akilimali, P. Z., Boy, E., Green, T. J., & Karakochuk, C. D. (2017). Serum Soluble Transferrin Receptor Concentrations Are Elevated in Congolese Children with Glucose-6-Phosphate Dehydrogenase Variants, but Not Sickle Cell Variants or α-Thalassemia. The Journal of Nutrition, 147(9), 1785‑1794. https://doi.org/10.3945/jn.117.252635
Brito, D. R. A., Mutchamua, J. R., Chilundo, B., & Pinto, F. P. D. (2022). Electrophoretic and molecular profile of the hemoglobinopathies in newborns at a reference hospital in Mozambique. Rendiconti Lincei. Scienze Fisiche e Naturali, 33(2), 283‑293. https://doi.org/10.1007/s12210-022-01073-w
Egesa, W. I., Nakalema, G., Waibi, W. M., Turyasiima, M., Amuje, E., Kiconco, G., Odoch, S., Kumbakulu, P. K., Abdirashid, S., & Asiimwe, D. (2022). Sickle Cell Disease in Children and Adolescents : A Review of the Historical, Clinical, and Public Health Perspective of Sub-Saharan Africa and Beyond. International Journal of Pediatrics, 2022, 3885979. https://doi.org/10.1155/2022/3885979
El-Beshlawy, A., Kaddah, N., Moustafa, A., Mouktar, G., & Youssry, I. (2007). Screening for beta-thalassaemia carriers in Egypt : Significance of the osmotic fragility test. Eastern Mediterranean Health Journal, 13(4), 780‑786.
El-Shanshory, M. R., Sherief, L. M., Yahia, S., Ragab, S. M., Mansour, A. K., Hassab, H. M., Hesham, M. A., Ahmed, A. S., Beshir, M. R., El Fotoh, W. M. A., El Naby, S. A. A., Alllah, A. M. G., Khalifa, N. A., Soliman, M. A., El-Dahtory, F., El-Farahaty, R. M., Osman, E., Elhabyan, A., El-Lateef, A. E. A., … Eid, A.-R. (2023). Beta Thalassemia Carrier Rate : Problem Burden among High School Children. Current Pediatric Reviews, 19(2), 203‑209. https://doi.org/10.2174/1573396318666220624142349
Engle-Stone, R., Williams, T. N., Nankap, M., Ndjebayi, A., Gimou, M.-M., Oyono, Y., Tarini, A., Brown, K. H., & Green, R. (2017). Prevalence of Inherited Hemoglobin Disorders and Relationships with Anemia and Micronutrient Status among Children in Yaoundé and Douala, Cameroon. Nutrients, 9(7), 693. https://doi.org/10.3390/nu9070693
Gahutu, J.-B., Musemakweri, A., Harms, G., & Mockenhaupt, F. P. (2012). Prevalence of classic erythrocyte polymorphisms among 749 children in southern highland Rwanda. Transactions of the Royal Society of Tropical Medicine and Hygiene, 106(1), 63‑65. https://doi.org/10.1016/j.trstmh.2011.09.002
Hong, Q. N., Fàbregues, S., Bartlett, G., Boardman, F., Cargo, M., Dagenais, P., Gagnon, M. P., Griffiths, F., Nicolau, B., O’Cathain, A., Rousseau, M. C., Vedel, I., & Pluye, P. (2018). The Mixed Methods Appraisal Tool (MMAT) version 2018 for information professionals and researchers. Education for Information, 34(4), Article 4. https://doi.org/10.3233/EFI-180221
Isaiah, A., Kwaifa, I. K., Abdulrahman, Y., & Sunday, O. A. (2024). Prevalence of Thalassemia in Nigeria : Pathophysiology and Clinical Manifestations. Clinical Medicine And Health Research Journal, 4(2), 806‑815. https://doi.org/10.18535/cmhrj.v4i2.325
Kattamis, A., Forni, G. L., Aydinok, Y., & Viprakasit, V. (2020). Changing patterns in the epidemiology of β-thalassemia. European Journal of Haematology, 105(6), 692‑703. https://doi.org/10.1111/ejh.13512
Laghmich, A., Ismaili, F. A., Barakat, A., & ... (2019). Alpha‐thalassemia in North Morocco : Prevalence and molecular spectrum. BioMed Research International, 7, 2080352. https://doi.org/10.1155/2019/2080352
Li, Y., Wei, W., Gan, Y., Xie, X., Qin, P., Teng, L., & Jiang, L. (2024). Global, Regional, and National Epidemiology of Thalassemia in Childhood from 1990 to 2021. Journal of Biosciences and Medicines, 12(12), 361‑379. https://doi.org/10.4236/jbm.2024.1212029
Macharia, A., Mochamah, G., Uyoga, S., & ... (2020). β‐Thalassemia pathogenic variants in a cohort of children from the East African coast. Molecular Genetics & Genomic Medicine, 8 (7), e1294. https://doi.org/10.1002/mgg3.1294
Mugisha Emmanuel, K. (2025). Hemoglobinopathies and Red Blood Cell Disorders : A Genetic Perspective on Anemia in East Africa. Eurasian Experiment Journal of Scientific and Applied Research, 7(3), 6‑10.
Obeagu, E. I. (2025). Thalassemia in Sub-Saharan Africa : Epidemiology, diagnosis, and management – a narrative review. Annals of Medicine and Surgery, 87(6), 3523‑3536. https://doi.org/10.1097/MS9.0000000000003270
Origa, R. (2017). β-Thalassemia. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 19(6), 609‑619. https://doi.org/10.1038/gim.2016.173
Osman, H. A., Hamid, M. M. A., Ahmad, R. B., Saleem, M., & Abdallah, S. A. (2020). Prevalence of 3.7 and 4.2 deletions in Sudanese patients with red cells hypochromia and microcytosis. BMC Research Notes, 13(1), 65. https://doi.org/10.1186/s13104-020-4933-5
Rao, E., Kumar Chandraker, S., Misha Singh, M., & Kumar, R. (2024). Global distribution of β-thalassemia mutations : An update. Gene, 896, 148022. https://doi.org/10.1016/j.gene.2023.148022
Siala, H., Ouali, F., Messaoud, T., Bibi, A., & Fattoum, S. (2008). alpha-Thalassaemia in Tunisia : Some epidemiological and molecular data. Journal of Genetics, 87(3), 229‑234. https://doi.org/10.1007/s12041-008-0036-0
Smith Yolanda. (2022, août 30). Thalassemia prevalence. News Medical. https://www.news-medical.net/health/Thalassemia-Prevalence.aspx
Suchdev, P. S., Ruth, L. J., Earley, M., Macharia, A., & Williams, T. N. (2014). The burden and consequences of inherited blood disorders among young children in western Kenya. Maternal & Child Nutrition, 10(1), 135‑144. https://doi.org/10.1111/j.1740-8709.2012.00454.x
Tuo, Y., Li, Y., Li, Y., Ma, J., Yang, X., Wu, S., Jin, J., & He, Z. (2024). Global, regional, and national burden of thalassemia, 1990–2021 : A systematic analysis for the global burden of disease study 2021. eClinicalMedicine, 72, 102619. https://doi.org/10.1016/j.eclinm.2024.102619
Twum, S., Fosu, K., Felder, R. A., & Sarpong, K. A. N. (2023). Bridging the gaps in newborn screening programmes : Challenges and opportunities to detect haemoglobinopathies in Africa. African Journal of Laboratory Medicine, 12(1), 8.
UNFPA. (2022, mars 30). State of the World Population Report 2022. https://wcaro.unfpa.org/sites/default/files/pub-pdf/en_swp22_report-web_-_29_march_1_0.pdf
Vichinsky, E. (2016). Non-transfusion-dependent thalassemia and thalassemia intermedia : Epidemiology, complications, and management. Current Medical Research and Opinion, 32(1), 191‑204. https://doi.org/10.1185/03007995.2015.1110128
Viechtbauer, W. (2010). Conducting Meta-Analyses in R with the metafor Package. Journal of Statistical Software, 36(3), 1‑48. https://doi.org/10.18637/jss.v036.i03
WHO. (2025). Atlas of African Health Statistics 2022 : Health situation analysis of the WHO African Region — Summary report. World Health Organization. https://iris.who.int/server/api/core/bitstreams/a6021e5d-0ec0-4203-94b9-6fe1fff7aa0d/content
Copyright (c) 2025 Ide Amadou Habibatou, Tapha Ounoussa, Ali Zaratou, N’Kpingou Theodore Nadakou, Hamidou Oumou, Mamane Daouda Aminata, Zeinabou Alhassane Doudou, Ousmane Abdoulaye, Mounkaila Boutchi
This work is licensed under a Creative Commons Attribution 4.0 International License.
