الفهرس 
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Abstract
Beta thalassemia & sickle cell disease are the most common hemoglobinopathies. In β thalassemia, excess α globin chains result in increased intramedullary destruction of the red cell precaursers, ineffective erythropoiesis, and anemia.
In sickle cell disease, the abnormal Hb (Hb S) causes episodes of ꞌsicklingꞌ causing pain &other symptoms.
Hb F concentration is a predominant modulator for the severity of both β thalassemia & sickle cell disease. The quantitative trait loci which include the DNA polymorphisms at HBS1L-MYB intergenic region (HMIP), BCL11A & HBB cluster are thought to have a strong effect on Hb F regulation.
The aim of this work was to study the HBS1L –MYB (rs 4895441 &rs 9376090) gene polymorphisms in patients with hemoglobinopathy (Beta thalassemia major and sickle cell disease) and to study its relation to Hb F and to severity of the disease.
This study was carried out on 150 subjects divided into three groups. Group1 included 50 β thalassemia major children, group 2 included 50 sickle cell disease patients and group 3 included 50 age and sex-matched healthy children as controls.
All studied individuals were subjected to the following: complete history taking, complete blood count, serum ferritin. Genotyping for HBS1L –MYB (rs 4895441 &rs 9376090) was done by (RT-PCR) technique. Hemoglobin variants separation by High Performance Liquid chromatography (HPLC) in patient groups.
The results of this study:
Serum ferritin level was significantly higher in thalassemia group than controls and sickle cell disease group (p<0.05).
There was a significant association between HBS1L –MYB (rs 4895441) polymorphism and sickle cell disease, the frequency of AG genotype of HBS1L –MYB (rs 4895441) was higher in sickle cell disease patients compared to controls & also a significant association was found between AG genotype of HBS1L –MYB (rs 4895441) and higher age of sickle cell disease presentation, lower number of crises, higher Hb F & lower Hb S level.
A significant association was found between HBS1L –MYB (rs9376090 ) polymorphism and sickle cell disease, the frequency of TC genotype of HBS1L –MYB (rs9376090 ) was higher in sickle cell disease patients compared to controls & also a significant association was found between TC genotype of HBS1L –MYB (rs 9376090) and lower number of crises and lower level of Hb S, but no significant association was found between HBS1L –MYB (rs 9376090) polymorphism and age of sickle cell disease presentation nor Hb F level in sickle cell disease patients.
No significant difference was found between thalassemia patients and controls regarding HBS1L –MYB (rs9376090 & rs 4895441 ) polymorphisms , also no significant association was detected between different genotypes of HBS1L –MYB (rs9376090 & rs 4895441) and Hb level, age of disease presentation , frequency of blood transfusion, splenectomy, severity of disease nor HbF.