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 | ||||
| Volume 31, Issue 2, April 2020, Page 146-149 PDF (272.56 K) | ||||
| Document Type: Original Article | ||||
| DOI: 10.21608/mjmr.2022.220853 | ||||
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| Authors | ||||
| Gehan L. Abdel Hakeem1; , Aliaa M. M. Hegazi2; Mohamed H. M. Mahgoub3; Lina Ahmed Mahmoud3 | ||||
| 1Department of Pediatrics, Minia University Hospita | ||||
| 2Department of clinical pathology, Minia University Hospital | ||||
| 3Department of Pediatrics, Minia University Hospital | ||||
| Abstract | ||||
| 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 | ||||
| Keywords | ||||
| Beta Thalassemia; Patients Clinical Outcomes | ||||
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