Article
Molecular detection of Spanish deltabeta-thalassemia associated with beta-thalassemia identified during prenatal diagnosis.
Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2006
Barragan Eva, Bolufer Pascual, Perez María L, Prieto Felix, Sanz Miguel A
Abstract excerpt
BACKGROUND: beta-Thalassemia is one of the most common single gene disorders and is widely distributed in the Mediterranean region. The deltabeta-thalassemias are a rare group of disorders, however in Spain the Spanish deltabeta0 thalassemia that removes 114 kb of beta-globin cluster is quite frequent. METHODS: To establish a molecular diagnosis of beta-thalassemia in a second-trimester fetus from a couple who...
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