@article {65601,
	title = {Effects of Codon 39 (c\&gt;t) Mutation on The Changes of Hematological Parameters in Children with Beta-Thalassemia Major in the Region of Batna, Algeria. ISSN 0971-9032},
	journal = {Current Pediatric ResearchCurrent Pediatric Research},
	volume = {volume 20},
	year = {2016},
	month = {2016},
	pages = {pp 203-208},
	abstract = {Clinical heterogeneity is often due to genetic heterogeneity. One mechanism by which different mutations can produce a phenotypic variation). Beta-thalassemia is mainly caused by a large number of mutations of the gene for beta-globin. The objective of this study is to correlate molecular lesions and clinical signs in children with beta-thalassemia homozygous. We carried out the molecular genetics of beta globin gene by the method of mini sequencing using Snapshot {\texttrademark} kit (Applied Biosystems) in search of the mutation codon 39 (C\&gt;T) (HBB: c.118C\&gt;T) and we studied haematological parameters by statistical method using the test {\textquotedblleft}t{\textquotedblright} of Student for comparing the means of the samples. The peripheral blood smear examination was done from the slides stained in Wright stains. The results obtained have shown that beta-thalassemia homozygous children with severe anemia over 30 {\textpm} 0.9 g/L of total Hb with microcytosis of 60,80 {\textpm} 2.014 fl, hypochromia 18.47 {\textpm} 0.6023 pg and the number of red blood cells is 3.220 {\textpm} 0.2778 (10{\textonesuperior}{\texttwosuperior}/L). In addition, a significantly secondary thrombocytosis and leukocytosis were reported in patients. Thus the electrophoresis of hemoglobin exhibits a high Hb F (55 to 82\%). The peripheral smear examination revealed many red cell abnormalities in the blood. In this study, we used the mini sequencing assay as a rapid screening procedure to identify the severe codon 39 (C\&gt;T) mutation in the HBB gene. Phenotype of beta thalassemia major is characterized with various hematological parameters.},
	author = {Belhadi, Kamilia and Yahia, M. and Gribaa, M. and Bendaoud, F. and Bencharfeddine, I. and Manoubi, W. and Zidani, A.}
}
