Article
Alpha-thalassemia phenotype induced by the new IVS-II-2 (T --> A) splice donor site mutation on the alpha2-globin gene.
Hemoglobin - 1 Jan 2006
Harteveld Cornelis L, Jebbink Max C W, van der Lely Nico, van Delft Peter, Akkermans Nicole, Arkesteyn Sandra, Giordano Piero C
Abstract excerpt
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...
Topics
- Adult
- Alleles
- Alternative Splicing
- Anemia, Hypochromic
- Chronic Disease
- DNA Mutational Analysis
- Family Health
- Gene Deletion
- Globins
- Hemoglobins
- Humans
- Male
- Pedigree
- Phenotype
- Point Mutation
- Protein Subunits
- alpha-Thalassemia