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Abstract
Abstract
Background and objective:
Thalassemias are common autosomal recessive disorders especially in populations of Mediterranean, Middle Eastern, and Far Eastern descent. In Egypt, over 1000 of the annual 1.5 million newborns are expected to be affected with this disorder. The present work was aimed at the detection of one of the most common mutations affecting the alpha globin genes ( + 3.7 rightward deletion) causing -thalassemia in the -thalassemic patients in order to relate genotype to phenotype
Subjects and methods:
This study included 32 beta thalassemia patients (21 males and 11 females) belonging to 24 families living in Ismailia and Port- Said. Detailed history was recorded for all patients included personal history detailed history of the disease and family history. Patients were examined for general examination, presence of thalassemic facies, growth and developmental retardation and abdominal examination. Hb level measurement, Hb electrophoresis and serum ferritin were done followed by genetic detection of the alpha globin genes mutation by thermal cycler PCR.
Results:
The study revealed that all the involved cases had intact -globin genes as the 3.7 deletional -thalassemia was not found in any patient indicating the low frequency of -thalassemia in -thalassemic patients
Conclusion:
Although the presence of -thalassemia in -thalassemic patients may alleviate the clinical severity of the disease, the result obtained from this study indicates that the contrasting clinical phenotypes (severe and mild) observed in thalassemic patients having the same genotypes (the same -thalassemic alleles with intact globin genes) may be related to other undefined determinants.