Assessment of Molecular Changes of Transfusion Dependent Beta Thalassemia Children in El Minia Governorate and Their Correlations with Patients Clinical Outcomes
Beta Thalassemia represents a major public health problem in Egypt. The carrier rate varies between 5.5% to > 9%. It is estimated that there are 1000/1.5 million per year live births born with beta thalassemia.(1) β thalassemia occurs when there is a quantitative reduction of β globin chains that are usually structurally normal.(2) They are caused by mutations that nearly all affect the β globin locus and are extremely heterogeneous. Almost every possible defect affecting gene expression at transcription or post-transcriptional level, including translation, have been identified in β thalassemia.(3) These genetic defects lead to a variable reduction in β globin output ranging from a minimal deficit (mild β+ thalassemia alleles) to complete absence (β° thalassemia). Aim of the work: We aimed in this study to assess the molecular changes in transfusion dependent Beta thalassemia patients and the correlation of these molecular changes with their clinical outcomes. Patients & methods: This study will include 40 transfusion dependent β thalassemia patients with age range of 2 -18 years, recruiting the Pediatric Hematology unit in Minia University children hospital. Study procedure: β-Thalassemia mutation identification of samples will be performed by the reverse dot blot hybridization technique (RDB). For RDB, a panel of primers and probes using the beta globin strip assay well be used (β-Globin Strip Assay MED kit, VIENNA lab
Abdel Hakeem, G., Hegazi, ,. A., Mahgoub, M., & Mahmoud, L. (2020). Assessment of Molecular Changes of Transfusion Dependent Beta Thalassemia Children in El Minia Governorate and Their Correlations with Patients Clinical Outcomes. Minia Journal of Medical Research, 31(2), 146-149. doi: 10.21608/mjmr.2022.220853
MLA
Gehan L. Abdel Hakeem; , Aliaa M. M. Hegazi; Mohamed H. M. Mahgoub; Lina Ahmed Mahmoud. "Assessment of Molecular Changes of Transfusion Dependent Beta Thalassemia Children in El Minia Governorate and Their Correlations with Patients Clinical Outcomes". Minia Journal of Medical Research, 31, 2, 2020, 146-149. doi: 10.21608/mjmr.2022.220853
HARVARD
Abdel Hakeem, G., Hegazi, ,. A., Mahgoub, M., Mahmoud, L. (2020). 'Assessment of Molecular Changes of Transfusion Dependent Beta Thalassemia Children in El Minia Governorate and Their Correlations with Patients Clinical Outcomes', Minia Journal of Medical Research, 31(2), pp. 146-149. doi: 10.21608/mjmr.2022.220853
VANCOUVER
Abdel Hakeem, G., Hegazi, ,. A., Mahgoub, M., Mahmoud, L. Assessment of Molecular Changes of Transfusion Dependent Beta Thalassemia Children in El Minia Governorate and Their Correlations with Patients Clinical Outcomes. Minia Journal of Medical Research, 2020; 31(2): 146-149. doi: 10.21608/mjmr.2022.220853
)
View on SCiNiTO