Identification of Mediterranean β-Thalassemia Mutations by Reverse DOT-Blot in Italians and Egyptians

Abstract

beta-Thalassemia is a significant public health problem in Egypt where over 1000 of the annual 1.5 million newborns are expected to be affected with this disorder. A preventive program of the disease should be multifaceted with its technical component based on carrier screening and prenatal diagnosis through mutation detection. In addition, it should have an information and educational component with the aim of increasing public awareness of the disease. Proper selection of the technique(s) to be utilized in such a program is highly important. The appropriate technique to be used in screening should be reliable, simple and cost effective. It should also circumvent the problem of marked heterogeneity of the disease in Egypt. The reverse dot-blot technique has been used in the present study for the characterization of mutations in 138 Italian and 108 Egyptian thalassemia chromosomes, confirming its reliability as a screening method. The technique is now in routine use for thalassemia diagnosis in the Microcitemia Center of the Galliera Hospital in Genoa, Italy. Based on these results, we recommend the reverse dot-blot method as the technique of choice in the preventive program of this disease in Egypt.