Rapid detection of β-thalassemia alleles in egypt using naturally or amplified created restriction sites and direct sequencing:: A step in disease control

ss-Thalassemia (thal), the most common genetic disorder in Egypt, is a major health problem with an estimated, carrier rate of 9-10%. This study, aimed at describing the ss-globin gene mutations in the Suez Canal area, an important Egyptian region, to provide a foundation for a disease control program. We studied 44 ss-thalassemic patients (and their relatives) from 35 families living in this region. The commonest mutations were genetically diagnosed using naturally or amplified created restriction sites. Less frequent mutations were characterized by denaturing gradient get electrophoresis (DGGE) and direct sequencing. Twelve different mutations were identified, in 51 unrelated chromosomes. The three most frequent mutations were IVS-I-110 (G -> A), IVS-I-1 (G -> A) and IVS-I-6 (T -> C). The spectrum of rarer mutations was heterogeneous and d fferedfrom that reported in other areas ofEopl. We also identified thefirst homozygous case of a rare mutation, codon 24 (-G; +CAC), displaying a thalassan'lia major phenotype. Parental consanguinity was high (60.6 %) with 35.7% of the compound heterozygous patients having consanguineous parents. These data provide insightsfor the distribution off ss-thal alletes in this region, and could be used as a basisfor genetic counseling and prenatal, diagnosis.