Genotype/Phenotype Correlation of β-Thalassemia in Syrian Patients: A Cross-Sectional Study.

β-Thalassemia (β-thal) is an inherited blood disorder caused by reduced or absent synthesis of β-globin chains leading to imbalance of globin chain synthesis. β-Thalassemia (β-thal), refers to the complete absence of β-globin chain production on the affected allele. β-Thalassemia (β-thal) refers to alleles with some residual production of β-globin chain.

Description of a rare β-globin gene mutation, IVS-II-848 (C>A) (: c.316-3C>A) in association with IVS-I-1 (G>A) (: c.92 + 1G>A), observed in a Syrian family: a case report.

β-Thalassemia (β-thal) is a hereditary and heterogeneous group of disorders caused by mutations on the β-globin gene that result in the reduced or non production of β-globin chains. We report a rare β-globin mutation, IVS-II-848 (C>A) (: c.316-3C>A), which was found in a female Syrian patient.