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α-Thalassemia Phenotype Induced by the New IVS-II-2 (T→A) Splice Donor Site Mutation on the α2-Globin Gene

2006; Taylor & Francis; Volume: 30; Issue: 1 Linguagem: Inglês

10.1080/03630260500453784

1532-432X

Cornelis L. Harteveld, Max C.W. Jebbink, Nico van der Lely, Peter van Delft, Nicole Akkermans, Sandra Arkesteyn, Piero C. Giordano,

Machine Learning in Bioinformatics

We present a family of North European extraction referred for a refractory non iron depleted microcytic anemia. The proband, a 36-year-old male, presented with chronic borderline anemia and microcytic hypochromic parameters. No abnormal hemoglobin (Hb) fractions were observed on high performance liquid chromatography (HPLC) or on alkaline electrophoresis. Gap-polymerase chain reaction (gap-PCR) excluded the seven common α-thalassemia (thal) deletion defects. However, the β/α-globin chain synthesis ratio measured in vitro was unbalanced, indicating a reduced expression of the α-globin genes. Direct sequencing of the α-globin genes revealed heterozygosity for a T→A transversion at the IVS-II-2 position of the α2 gene. This is the first IVS-II splice donor site mutation described on the α2-globin gene.