Molecular update of β-thalassemia mutations in the Syrian population: identification of rare β-thalassemia mutations.

doi:10.3109/03630269.2014.912661

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Article

Molecular update of β-thalassemia mutations in the Syrian population: identification of rare β-thalassemia mutations.

Hemoglobin - 1 Jan 2014

Jarjour Rami A, Murad Hossam, Moasses Faten, Al-Achkar Walid

Abstract excerpt

β-Thalassemia (β-thal) is an autosomal recessive disorder characterized by variable degrees of anemia, bone marrow hyperplasia, splenomegaly, and complications related to the severity of the anemic state. The β-thalassemias result from mutations in and around the β-globin gene (HBB) located as a...

Topics

Alleles
Consanguinity
Gene Frequency
Genotype
Humans
Mutation
Population Surveillance
Syria
beta-Globins
beta-Thalassemia

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