الفهرس 
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Abstract
Introduction
β-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.
Clinically, β-thalassemia can be classified in transfusion-dependent thalassemia (TDT) and non–transfusion-dependent thalassemia (NTDT) according to the severity of phenotypic presentation caused by the α:β-globin chain unbalance ratio deriving derived from a wide spectrum of mutations in a homozygous or compound heterozygous state.
Aim of work
We aimed in this study to assess the molecular changes in Beta thalassemia patients and the correlation of these molecular changes with their clinical outcomes.
Patients & methods:
This study included β thalassemia patients with age range of 2 -18 years, recruiting the Pediatric Hematology unit in Minya University children hospital from February 2019 to August 2019 (Six months interval). Seventy-four patients were collected for the study in this period.
All enrolled Patients well be subjected to:
A-Clinical assessment
1- Full medical History taking including age, sex, age of starting transfusion, family history of consanguinity and similar conditions in family.
2- Clinical examination including general examination stressing on anthropometric measures plotted on growth chars. Systematic examination including chest, heart, abdominal, musculoskeletal, joints and neurological examination
B- Laboratory work including
Routine lab investigations:
a -Complete blood picture
b- Hb electrophoresis
c- Serum ferritin
d-Liver functions
e-Renal functions
F- Amount of blood transfusions per kg/year.
C-Echocardiography
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)
Results
1- 62.2% of our patients are younger than 4 years old
2- Only 29.7% of patient’s height were below 3rd centile & 70.2% were within normal range
3- There were 9 positive mutations detected in our patients as follows:
Codon 15 (TGG>TGA) 2.7%
IVS 1.1 (G>A) 35.1%
IVS 1.6 (T>C) 21.6%
IVS 1.110 (G>A) 10.8%
IVS 1.116 (T>G) 5.4%
Codon 44 (-C) 5.4%
IVS 2.1 (G>A) 2.7%
IVS 2.745 (C>G) 40.5%
IVS 2.848 (C>A) 59.5%
4- The B-Thalassemia phenotypic presentation is not correlated to the type of genetic mutation.