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Title of article :
Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients
Author/Authors :
C.L. Harteveld، نويسنده , , C. Refaldi، نويسنده , , E. Cassinerio، نويسنده , , M.D. Cappellini، نويسنده , , P.C. Giordano، نويسنده ,
Issue Information :
روزنامه با شماره پیاپی سال 2008
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Abstract :
We describe two cases of simple heterozygosity for the common β°-thalassemia mutation β39 (C → T), both presenting with a thalassemia intermedia phenotype. In both cases synergic effect deriving from membrane defects or red cell enzyme deficiencies were excluded. In one case a triplication of the α-globin genes was found which did not justify the severity of the transfusion-dependent phenotype. Multiplex ligation-dependent probe amplification (MLPA) analysis of the α-globin gene cluster revealed two new rearrangements, consisting of a full duplication of the α-globin genes locus including the upstream regulatory element. In one case the duplication was in the presence of the common anti-α3.7 triplication in trans, resulting in a total of 7 active α-globin genes. In the other case the duplicated allele and the normal allele in trans resulted into a total of 6 active α-globin genes. We report the clinical and hematological data and the molecular analysis and discuss the occurrence of α-globin genes duplication defects in cases of β-thalassemia heterozygotes with thalassemia intermedia phenotypes.
Keywords :
Thalassemia intermedia , ?-globin genes , 16p , MLPA
Journal title :
Blood Cells, Molecules and Diseases
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