Correlation Between Hematological Parameters And Molecular Mutations In Beta Thalassemia Patients
Keywords:
Beta thalassemia, hemoglobin, beta-globin, anemia, gene mutationsAbstract
Mutations in the hemoglobin-producing HBB gene produce the inherited hemoglobin condition beta thalassemia, which manifests as low or nonexistent beta-globin chain production. Because of this, the clinical symptoms might vary greatly, from mild transfusion-dependent anemia to asymptomatic carriers. Understanding the correlation between hematological parameters and specific molecular mutations is crucial for improving diagnosis, prognosis, and personalized treatment strategies. This study aims to analyze the relationship between hematological parameters and molecular mutations in beta thalassemia patients to identify genotype-phenotype correlations. It is anticipated that certain β-globin gene mutations will be associated with more severe hematological abnormalities, such as lower hemoglobin levels, increased RBC count, and altered HbA2 and HbF levels. Additionally, mild mutations may correlate with less severe hematological findings, aiding in the differentiation of carriers from affected individuals
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References
1. Weatherall D (2004). The thalassemias: The role of molecular genetics in an evolving global health problem. Am J Hum Genet. 74: 385–392.
2. Vichinsky E. (2005). Changing Patterns of Thalassemia Worldwide. New York Academy of Sciences. 1054: 18-24.
3. Cunningham MJ, Macklin EA, Neufeld EJ, Cohen AR, Thalassemia Clinical Research Network. Complications of β-thalassemia major in North America. Blood. 2004 Jul 1;104(1):34-9.
4. Isken O, Maquat LE 2007. Quality control of eukaryotic mRNA: Safeguarding cells from abnormal mRNA function. Genes Dev 21: 1833–1856
5. Efremov GD 2007. Dominantly inherited β-thalassemia. Hemoglobin 31: 193–207
6. Ohba Y, Hattori Y, Harano T, Harano K, Fukumaki Y, Ideguchi H 1997. β-Thalassemia mutations in Japanese and Koreans. Hemoglobin 21: 191–200
7. Khattak SA, Ahmed S, Anwar J, Ali N, Shaikh KH. Prevalence of various mutations in beta thalassaemia and its association with haematological parameters. JPMA-journal of the Pakistan Medical Association. 2012 Jan 1;62(1):40.
8. Mehrabi M, Alibakhshi R, Fathollahi S, Farshchi MR. The spectrum of β-thalassemia mutations in Kermanshah Province in West Iran and its association with hematological parameters. Hemoglobin. 2013 Dec 1;37(6):544-52.
9. Saleh-Gohari N, Bami MK, Nikbakht R, Karimi-Maleh H. Effects of α-thalassaemia mutations on the haematological parameters of β-thalassaemia carriers. Journal of clinical pathology. 2015 Jul 1;68(7):562-6.
10. Nuntakarn L, Fucharoen S, Fucharoen G, Sanchaisuriya K, Jetsrisuparb A, Wiangnon S. Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-β-thalassemia in Northeast Thailand. Blood Cells, Molecules, and Diseases. 2009 Jan 1;42(1):32-5.
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