The Spectrum of α-Thalassemia Mutations in Syrian Patients.

α-Thalassemia (α-thal) is a globally prevalent genetic disorder of hemoglobin (Hb) structure where the rate of α-globin chain synthesis is reduced or absent due to the presence of α-globin mutation(s). The aim of this study is to define the spectrum of α-globin gene mutations and evaluate their allele frequency in a group of α-thal carriers. A total of 55 individuals with possible α-thal patients were referred from the thalassemia centers in Syria.

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.

Compliance with Deferoxamine Therapy and Thyroid Dysfunction of Patients with β-Thalassemia Major in Syria.

Hypothyroidism is one of the common endocrine complications described in patients with β-thalassemia major (β-TM). Studies have reported its incidence and severity depending on the region, quality of management and treatment protocols. The reported thyroid dysfunction includes overt hypothyroidism, subclinical hypothyroidism and rarely, central hypothyroidism.

Haplotype Analysis of Three Common β-Thalassemia Mutations in Syrian Patients.

β-Globin haplotypes were used to investigate the origin of three common β-globin mutations, IVS-I-110 (G>A); HBB: c.93-21G>A, IVS-I-1 (G>A); HBB: c.92 + 1G>A and codon 39 (C>T); HBB: c.

Geographical distribution of β-globin gene mutations in Syria.

Objectives: β-Thalassemia disease is caused by mutations in the β-globin gene. This is considered as one of the common genetic disorders in Syria. The aim of this study was to identify the geographical distribution of the β-thalassemia mutations in Syria.

Prenatal molecular diagnosis of β-thalassemia and sickle cell anemia in the Syrian population.

Our objective was to evaluate the prenatal diagnosis (PND) of β-thalassemia (β-thal) and sickle cell anemia in Syria. Mutations detected from blood of at-risk couples and 55 amniotic fluid samples collected at the second trimester of pregnancy (14-22 weeks' gestation) were characterized. Molecular screening and direct DNA sequencing of the HBB gene was carried out.