Red blood cell indexes in +1 (Cap site) mutation of β thalassemia gene

Beta thalassemia is a complex monogenic disease, and patient’s phenotypes are varied with location and type of mutations. Because of the complexity in detecting mutations in Beta thalassemia genes, despite medical efforts, in some cases, can lead to birth a new thalassemic patient. One thalassemic silent mutation is +1Cap that occurs in the 5>UTR of beta-globin genes. This mutation does not effected on RBC indexes and do not clear hematological changes. Therefore, the identification of clinical and phenotypic changes is almost impossible. However, this globins’ chain mutation accumulated with other mutations can be disastrous and lead to major beta thalassemia. Therefore these mutations whit worldwide distributions are important and detection of hematologic index with advances methods is necessary.