The β-thalassemia syndromes are genetic disorders characterized by absence or decrease in β chain synthesis, producing an alteration in the α and β chain relationship. From the molecular point of view β-thalassemia is very heterogeneous. More than 100 mutations have been described. Each ethnic group has a variety of mutations; in the Mediterranean region there are more than 30 mutations, but only 8 of them are common. Our population is composed of different ethnic groups, with immigration principally from Italy and Spain. This study was an attempt to gather information regarding the presence of the most frequent mutations in our population.
|Number of pages||2|
|Publication status||Published - 2000|
- β-thalassemia mutations
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