A case report of a homozygous form of Beta-thalassemia
Keywords:
children, homozygous form of beta-thalassemia, chelation therapy, haemotransfusion, hemosiderosisAbstract
Introduction: Beta-thalassemia is a hereditary hemoglobinopathy, which is based on the suppression of beta chains of globin.
Objective: To report a severe case of Beta-thalassemia in a child whose both parents, as well as the eldest child in the family, have a heterozygous form of Beta-thalassemia without clinical manifestations is presented.
Case report: At the age of 1 year and 8 months, the patient was diagnosed: HbF – 94.98%, HbA -1.17%, the presence of IVS2-1 (G-A) replacement in a homozygous state. The molecular genetic studies of both parents and the eldest child in the family showed heterozygous form of Beta-thalassemia. The basis of thalassemia treatment is regular blood transfusions to maintain normal levels of haemoglobin, which this patient is receiving (haemoglobin levels from 67 to 90 grams per litre). Due to the high levels of serum iron (>30mcmol per litre) and ferritin (>1000 mcg per litre), chelation therapy was prescribed to prevent complications. At the age of 7, the girl underwent a Magnetic Resonance by Images of the abdominal organs, which revealed grade 3 iron overload of the liver, signs of hemosiderosis of the liver and bone marrow. Additional ursodeoxycholic acid therapy was prescribed.
Conclusions: Despite the necessary and regular treatment, as the patient grows older, the therapy did not prevent development of complications such as hemosiderosis of the liver, spleen, bone marrow, and the formation of bilirubin stones in the bile ducts.
Downloads
References
1. Alieva KA, Guseinova NT, Mamedova RF. Current state of prevention and treatment of thalassemia in Azerbaijan. Academy. 2022 [acceded 07/11/2023];1(72):6-9. Available at: https://cyberleninka.ru/article/n/profilaktika-posttransfuzionnyh-oslozhneniy-obuslovlennyh-antigenami-eritrotsitov-i-virusnymi-infektsiyami/viewer
2. Smetanina N.S. All-Russian Society of Orphan Diseases, “Thalassemia”; 2021 [accessed 07/11/2023]. Available at: http://talas.rare-diseases.ru/
3. Yusifova AA, Alekberova SA, Asadova BG. Statistical Indicators of Patients With Large and Intermittent Beta-thalassemia in Different Regions of Azerbaijan. Bulletin of Science and Practice. 2020;6(11):242-7. DOI: https://doi.org/10.33619/2414-2948/60/29
4. Botalova IV, Nikonova OE, Ryskal′ OV. Development of acute leukemia in a child with thalassemia (clinical case). Pediatric Bulletin of the Southern Urals. 2020;(2):82-6. DOI: https://doi.org/10.34710/Chel.2020.38.92.011
5. Budnevsky AV, Simion AYu, Shapovalova MM. Pathophysiology of anaemic syndrome in cardiovascular diseases. Science of the young (Eruditio Juvenium). 2021;9(2):301-12. DOI: https://doi.org/10.23888/HMJ202192301-312
6. Eremina YO, Magalhães C. Reticulocyte haemoglobin content: 2020 update. I.P. Pavlov Russian Medical Biological Herald. 2020;28(4):605-12. DOI: https://doi.org/10.23888/PAVLOVJ2020284605-612
7. Forni GL, Kattamis A, Kuo KHM, Maggio A, Sheth S, Taher AT, et al. Iron chelation therapy for children with transfusion-dependent β-thalassemia: How young is too young? Pediatric blood & cancer. 2024; 71(8):e31035. DOI: https://doi.org/10.1002/pbc.31035
8. Vlachaki E, Venou TM. Iron overload: The achilles heel of β-thalassemia. Transfusion clinique et biologique: journal de la Societe francaise de transfusion sanguine. 2024;1(3):167-73. DOI: https://doi.org/10.1016/j.tracli.2024.06.001
9. Motta I, Bou-Fakhredin R, Taher AT, Cappellini MD. Beta Thalassemia: New Therapeutic Options Beyond Transfusion and Iron Chelation. Drugs. 2020;80(11):1053-63. DOI: https://doi.org/10.1007/s40265-020-01341-9
10. Hamed EM, Meabed MH, Aly UF, Hussein RRS. Recent Progress in Gene Therapy and Other Targeted Therapeutic Approaches for Beta Thalassemia. Current drug targets. 2019;20(16):1603-23. DOI: https://doi.org/10.2174/1389450120666190726155733
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2025 Elena Alekseevna Kucheneva
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Avisos de derechos de autor propuestos por Creative Commons
1. Política propuesta para revistas que ofrecen acceso abierto
Aquellos autores/as que tengan publicaciones con esta revista, aceptan los términos siguientes:
- Los autores/as conservarán sus derechos de autor y garantizarán a la revista el derecho de primera publicación de su obra, el cuál estará simultáneamente sujeto a la Licencia de reconocimiento de Creative Commons que permite a terceros compartir la obra siempre que se indique su autor y su primera publicación esta revista.
- Los autores/as podrán adoptar otros acuerdos de licencia no exclusiva de distribución de la versión de la obra publicada (p. ej.: depositarla en un archivo telemático institucional o publicarla en un volumen monográfico) siempre que se indique la publicación inicial en esta revista.
- Se permite y recomienda a los autores/as difundir su obra a través de Internet (p. ej.: en archivos telemáticos institucionales o en su página web) antes y durante el proceso de envío, lo cual puede producir intercambios interesantes y aumentar las citas de la obra publicada. (Véase El efecto del acceso abierto).
