Older paternal age and positive consanguinity increase the burden of β thalassemia disease

problem owing to the wide prevalence of the disease in these regions.[1] β thalassemia is inherited as an autosomal recessive disorder, which results in reduction or absence in β globin chain.[2] Point mutation in the β-globin gene is the cause of β thalassemia inheritance in majority of cases, while short deletion in the same gene may occasionally be the cause. More than 200 mutations that result in β-thalassemia are present all over the world.[3] Mutation type varies among different populations; in Egypt, there are about 19 mutations, the most common are IVS-I-110 (G-->A), IVS-I-1 (G-->A), and IVS-I-6 (T-->C).[4] If the mutation results in complete absence of β chain, then the phenotype will be βo or β thalassemia major. If the mutation permits some degree of β chain production, then the phenotype will be thalassemia intermedia. Background: β thalassemia has been considered one of the most common genetic diseases. It represents public health concern especially in Middle East and Mediterranean regions.