الفهرس 
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Abstract
The study included:
• Thirty seven patients with beta thalassemia major from pediatric hematology unit of Minia University hospital, Minia, Egypt during the period November 2018 to July 2019.
• They were (17) males and (20) females. Their ages ranged from 1.5 years to 8 years.
• They were divided into 2 groups according to Hb level, group I
with Hb less than 7.0g/dl and group II with Hb more than 7.0g/dl.
Our Study results:
• The frequency of HBG2 wild CC genotypes were 31(83.8 %), 5 (13.5%) were heterozygous CT and only1 (2.7%) was homozygous TT.
• The frequency of BCL11A rs10189857 wild AA genotypes were 13 (35.1%), 20 (54.1%) were heterozygous AG and 4 (10.8%) patients were homozygous GG.
• The frequency of BCL11A rs1427407 wild AA genotypes were 14 (37.8%), 23 (62.2%) were heterozygous AG and no patient was homozygous GG.
• The frequency of HBS1L-MYB rs28384513 A>C wild AA genotypes were 29 (78.4%), 7 (18.9%) were heterozygous AC and only 1 (2.7%) patients was homozygous CC.
• The frequency of HBS1L-MYB rs9399137 T>C 29 (78.4%) wild TT genotypes were 29 (78.4%), 8 (21.6%) were heterozygous TC and no patient was homozygous CC.
• The study showed variable degrees of positive correlations between HbF level and the five studied SNPs (HBG2, BCL11A>G, BCL11G>T, HBS1L-MYB T>C, and HBS1L-MYB A>C). Similarly, it also showed positive correlations between HbF level and the combined polymorphisms.
• There was a weak insignificant correlation between Hb level and BCL11A>G and also with HBS1L-MYB T>C.
There were fair significant negative correlations between Hb level and HBG2 BCL11G>T and also with HBS1L-MYB A>C while there was a strong negative correlation between Hb level and combined polymorphism.
• There were no significant correlations between the skeletal complications and HBG2 or BCL11A>G, while there were fair correlations with BCL11G>T, HBS1L-MYB T>C and HBS1L-MYB A>C. There was strong significant correlation between skeletal complications and combined polymorphism.
• There were no correlations between the cardiac complications and BCL11A>G or BCL11G>T, fair correlation between cardiac complications with HBG2, HBS1L-MYB T>C, and HBS1L-MYB A>C While there was strong significant correlation between cardiac complications and combined polymorphism.