الفهرس 
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Abstract
Beta thalassaemias are a group of hereditary diseases caused by mutation of human globin gene.
Alpha hemoglobin stabilizing protein (AHSP) is a chaperone-like molecule specialized for erythroid series which binds to free α-globin chain.
This work aimed to investigate the significance of AHSP gene expression in both β thalassemia major and intermedia. The study was carried out at clinical pathology, Medical biochemistry and Molecular biology departments and cases were referred from Pediatric department.
In order to do this, we examined forty thalassaemia major patients (23 males and 17 females), forty thalassemia intermedia patients (23 males and 17 females) and forty apparently healthy matched gender and age individuals (22 males and 18 females).
All individuals were subjected to detailed history taking, full clinical examination, CBC (complete blood counting), HbF%, Ferritin level, Hb electrophoresis and quantitative real time PCR for assessment of α globin, β globin and AHSP genes expressions with use of β actin as endogenous reference gene.
Our results showed that:
1- The results indicated that thalassemia major group had severe phenotypic form of thalassemia compared with thalassemia intermedia group.
2- Hematological parameters were lower in both thal.groups than control group except RDW was higher in both thal. groups than control group. However, all these parameters were lower in thal. major than thal.intermedia.
3- HbF% was higher in both thal.groups than control group .Moreover it was higher in thal.intermedia group than thal.major group.
4- Serum ferritin level was higher in both thal.groups than control group.Beside it was higher in thal.major than thal.intermedia.
5- Frequency of blood transfusion was higher in thal.major than thal.intermedia.
6- α globin expression was higher in thal. intermedia compared with thal. major and control groups.
7- β globin expression was markedly lower in thal. major compared with thal. intermedia and control groups.
8- Β globin /α globin ratio was higher in control group compared with both thalassemia groups , while it did not differe between thalassemia major and intermedia groups.
9- AHSP expression was higher in thal.intermedia group than thal.major and control groups, also it was higher in thal. major group than control group.
10- α globin /AHSP and β globin /AHSP ratios were higher in control group versus both thal.groups . Moreover, α globin /AHSP was higher in thal.intermedia group than thal.major group. However, β globin /AHSP was not significant between both thal. groups.
11- AHSP expression was positively correlated with Hb, RBCs,HCT,MCV, α globin and β globin gene expression in total thal. cases , while in thal.major it was positively correlated with organomegally and number of blood transfusion. Beside in thal.intermedia it shows positive correlation with Hb, HCT, MCV MCH, α globin expression, β globin expression, and Β globin /α globin ratio.
12- AHSP expression was negatively correlated with clinical parameters of thalassemia , ferritin , blood transfusion ,severity and Β globin /α globin ratio in total thal.cases.
13- Multivariate linear regression shows that α globin and β globin expression are the most independent factors affecting AHSP expression in β-thalassemia patients.
14- Receiver operating characteristic (ROC) graph revealed that AHSP gene expression at cutoff ˃1 can discriminate thalassemia cases from healthy control with sensitivity 76.25%, specificity 80%.
15- Receiver operating characteristic (ROC) graph also revealed that AHSP expression at cutoff ≤ 11.31 can discriminate thalassemia major from thalassemia intermedia with sensitivity (92.5%), specificity (60.0%).