Effect alpha globlin gene deletion and gamma globin gene-158 (ct)‎ polymorphism in bata-thalassemic patients

Abstract EN

The beta-thalassemia (P- thalassemia) are among the most common autosomal recessive disorders.

They have a remarkably high frequency in the Mediterranean region and represent one of the most common genetic diseases in Egypt.

In this study, the spectrum of P-thalassemia mutations and genotype-to-phenotype correlations were defined in 32 P-thalassemia patients (P-thalassemia's major and intermediate) with varying disease severity in two cities of the Suez Canal region.

Ten different mutations were identified and the most frequent ones were : IVSI-6 (T-C) (37.5 %), IVSI-110 (G-A) (34.4 %) and both IVSI-1 (G-A), IVSII-745 (C-G) and -102 (C-G) (12.5 % each).

There was a wide spectrum of phenotypic severity in all patients.

We studied the Xmnl polymorphism (C / T) in y- globin gene position-158 of P-thalassemia as a modulating factor of the disease severity.

Presence of the polymorphism was found in two patients and this was not sufficient to explain the diversity of the phenotype encountered.

Co-inheritance of alpha thalassemia as a modulating factor was not evident in our patients.

In conclusion, we have been unable to find a molecular basis for the benign clinical course in all our patients.

Other genetic or acquired factors must be hypothesized which ameliorate the clinical condition.