Evaluation of some genetic factors influencing the phenotypic severity of beta thalassemia Egyptian patients

The objective of this study was to identify the influence of some genetic factors on the severity of Beta thalassemia. The study included 62 patients [27 Beta thalassemia major and 35 Beta thalassemia intermedia]. The patients were classified as major or intermedia on the basis of clinical examination, age of onset, rate of blood transfusion and hematological data. The search for mutations was done using polymerase chain reaction followed by reverse dot-biot technique. Severe mutations [B0] were found to cause Beta thalassemia major while milder mutations [B++] were noticed in Beta thalassemia intermedia patients. Amplification of a globin gene was successful in 57 Beta thalassemia patients. Alpha globin gene deletion was detected in 7% of the patients with a frequency of 9.4% for Beta thalassemia intermedia and 4% for the major patients. Moreover, the triple alpha arrangement [alpha-alpha-alpha 3, 7] was present in only one Beta thalassemia major Patient. The an1 polymorphism [C-T] was found in 4.8% of the Patients with a frequency of 5.7% for B thalassemia intermedia and 3.7% for the major patients. The mild phenotype of Beta thalassemia intermedia patients could be explained mainly by presence of mild B thalassemia mutations, coinheritance of a globin gene deletion and/or G gamma Xmn1 polymorphism. The search for additional genetic defects in a globin gene or other modifying factors is recommended for unexplained mild Beta thalassemia cases

Common FGFR3 gene mutation is detected in Egyptian patients with achondroplasia phenotype

In this study, the identification of a recurrent missense mutation [G 1138 A] in the transmembrane domain of the fibroblast growth factor receptor-3 [FGFR3] protein with glycine substituted with arginine at a residue 380 [G380R] was reported. It was shown that the mutant genotype was segregated in eight sporadic cases [out of eleven] of achondroplasia patients. The identified common mutation was in the heterozygous state in all instances, the homozygous form of the mutation was not observed. The G380R was not identified in the three cases in whom the clinical and radiological features of achondroplasia were shown, indicating the possibility of the presence of another, less frequent, FGFR3 gene mutation that might account for the ACH- phenotype and need a further delineation. In this analysis, the presence of the G380R mutation in a variety of Egyptian ACH patients was confirmed, who had not been previously reported on