MMSL 2024, 93(2):160-166 | DOI: 10.31482/mmsl.2023.018

EVALUATION OF FREE THYROXINE LEVEL AND BCL11A GENE POLYMORPHISM WITH BETA-THALASSEMIAOriginal article

Mayssam M. Salih ORCID...1*, Ahmed G. Al-Ziaydi1, Aalan Hadi Al-zamili2
1 Department of Medical Chemistry, College of Medicine, University of Al-Qadisiyah, University Street, 58002, Al- Diwaniyah, Iraq
2 Department of Pediatrics, College of Medicine, University of Al-Qadisiyah, University Street, 58002, Al- Diwaniyah, Iraq

Background: Thalassemia` is an autosomal recessive hereditary chronic hemolytic anaemia caused by a partial or total deficit in the production of β -globin chains that make up the main adult haemoglobin. Patients with the beta-thalassemia major have changes in thyroid function and result from thyroid function tests. The B-cell lymphoma /leukemia11A (BCL11A) gene is mainly located in the human chromosome 2p16.1 region; the BCL11A gene can regulate the expression of fetal haemoglobin.The aim: analysis of the association between beta-thalassemia and the BCL11A gene polymorphism in the Iraqi patient and to evaluate the effect of beta-thalassemia on the thyroid gland through the determination of free thyroxine concentration.

Method: There were 150 participants in this study, split into two primary groups beta-thalassemia patients and healthy individuals. The result is measured using the ELISA for measurement of free thyroxine and polymerase chain reaction techniques for amplification of B-cell lymphoma /leukemia11A (BCL11A) gene polymorphism.

Results: The findings showed a substantial drop in free thyroxine levels in beta-thalassemia patient groups as compared to the control group (P 0.01). The BCL11A gene has three alleles: homozygous CC, heterozygous TC, and homozygous TT. At (431 bais pair and 280 bais pair), (431 bais pair, 280 bais pair, and 195 bais pair), and (431 bais pair, and 195 bais pair), the bands appeared, respectively. The BCL11A rs11886868 gene is affected overall, and research into the causes of thalassemia found a substantial correlation between the BCL11A (rs 11886868) T and C-alleles and thalassemia (P-value = 0.004). The fact that these people have low serum thyroxine (T4) levels highlights the importance of routine screening to assess their endocrine function.

Keywords: BCL11A gene; homozygous; heterozygous; thyroid hormone; β-globin

Received: November 27, 2022; Revised: April 14, 2023; Accepted: April 14, 2023; Prepublished online: April 26, 2023; Published: June 3, 2024  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Salih, M.M., Al-Ziaydi, A.G., & Al-Zamili, A.H. (2024). EVALUATION OF FREE THYROXINE LEVEL AND BCL11A GENE POLYMORPHISM WITH BETA-THALASSEMIA. MMSL93(2), 160-166. doi: 10.31482/mmsl.2023.018
Download citation

References

  1. Sami HN, Fakhri MA. Biochemical study of serum β-hydroxybutyrate dehydrogenase in β-thalassemia. https://doi.org/10.31482/mmsl.2022.013 Go to original source...
  2. Oliva EN, Huey K, Deshpande S, et al. A Systematic Literature Review of the Relationship between Serum Ferritin and Outcomes in Myelodysplastic Syndromes. Journal of Clinical Medicine. 2022;11(3):895. https://doi.org/10.3390/jcm11030895 Go to original source... Go to PubMed...
  3. Temraz S, Santini V, Musallam K, et al. Iron overload and chelation therapy in myelodysplastic syndromes. Critical reviews in oncology/haematology. 2014;91(1):64-73. https://doi.org/10.1016/j.critrevonc.2014.01.006 Go to original source... Go to PubMed...
  4. Funnell AP, Prontera P, Ottaviani V, et al. 2p15-p16. 1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment. Blood, The Journal of the American Society of Hematology. 2015;126(1):89-93. https://doi.org/10.1182/blood-2015-04-638528 Go to original source... Go to PubMed...
  5. Martyn GE, Wienert B, Yang L, et al. Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding. Nature Genetics. 2018;50(4):498-503. https://doi.org/10.1038/s41588-018-0085-0 Go to original source... Go to PubMed...
  6. De Sanctis V, Roos M, Gasser T, et al. Impact of long-term iron chelation therapy on growth and endocrine functions in thalassaemia. Journal of pediatric endocrinology & metabolism: JPEM. 2006;19(4):471-480. Go to original source...
  7. Hussein SZ. Evaluation of thyroid hormones and ferritin level in patients with β-thalassemia. Medicine and Pharmacy Reports. 2022;95(2):152. https://doi.org/10.15386/mpr-2053 Go to original source... Go to PubMed...
  8. Neishabury M, Zamani F, Keyhani E, et al. The influence of the BCL11A polymorphism on the phenotype of patients with beta-thalassemia could be affected by the beta-globin locus control region and/or the Xmn1-HBG2 genotypic background. Blood Cells, Molecules, and Diseases. 2013;51(2):80-84. https://doi.org/10.1016/j.bcmd.2013.02.007 Go to original source... Go to PubMed...
  9. Galanello R, Sanna S, Perseu L, et al. Amelioration of Sardinian β0 thalassemia by genetic modifiers. Blood, The Journal of the American Society of Hematology. 2009;114(18):3935-3937. https://doi.org/10.1182/blood-2009-04-217901. Go to original source... Go to PubMed...
  10. Zhang H, Zhabyeyev P, Wang S, et al. Role of iron metabolism in heart failure: From iron deficiency to iron overload. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease. 2019;1865(7):1925-1937. https://doi.org/10.1016/j.bbadis.2018.08.030 Go to original source... Go to PubMed...
  11. De Sanctis V, Soliman A, Candini G, et al. High prevalence of central hypothyroidism in adult patients with β-thalassemia major. Georgian medical news. 2013 Sep 1(222):88-94.
  12. Pinto VM, Forni GL. Management of iron overload in beta-thalassemia patients: clinical practice update based on case series. International Journal of Molecular Sciences. 2020;21(22):8771. https://doi.org/10.3390/ijms21228771. Go to original source... Go to PubMed...
  13. Malik SA, Syed S, Ahmed N. Frequency of hypothyroidism in patients of b-thalassemia. J Pak Med Assoc. 2010;60(1):17-20. Go to PubMed...
  14. Rehman H, Masood J, Sheikh S, et al. Frequency of hypothyroidism in patients of beta thalassemia major. Annals of Punjab Medical College (APMC). 2019;13(1).
  15. Brozman O, Kumari P, Runze L, et al. Towards the high-throughput assessment of thyroid hormone system disruptors. MMSL. 2022;91(Suppl.1):12.
  16. Smith EC, Luc S, Croney DM, et al. Strict in vivo specificity of the Bcl11a erythroid enhancer. Blood, The Journal of the American Society of Hematology. 201610;128(19):2338-2342. https://doi.org/10.1182/blood-2016-08-736249. Go to original source... Go to PubMed...
  17. Althanoon ZA, Merkhan MM. The assessment of the incidences of ocular toxicity and ocular findings caused by iron-chelating compound. Archivos Venezolanos de Farmacologia y Terapéutica. 2022;41(7):514-519. https://doi.org/10.5281/zenodo.7358909 Go to original source...