Alpha-thalassemia phenotype induced by the new IVS-II-2 (T --> A) splice donor site mutation on the alpha2-globin gene.

Abstract

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 alpha-thalassemia (thal) deletion defects. However, the beta/alpha-globin chain synthesis ratio measured in vitro was unbalanced, indicating a reduced expression of the alpha-globin genes. Direct sequencing of the alpha-globin genes revealed heterozygosity for a T --> A transversion at the IVS-II-2 position of the alpha2 gene. This is the first IVS-II splice donor site mutation described on the alpha2-globin gene.

• Authors: Cornelis L Harteveld, Max C W Jebbink, Nico van der Lely, Peter van Delft, Nicole Akkermans, Sandra Arkesteyn, Piero C Giordano
• Journal: Hemoglobin (Hemoglobin) Vol. 30 Issue 1 Pg. 3-7 ( 2006) ISSN: 0363-0269 [Print] England
• PMID: 16540408 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins
• Protein Subunits
• Globins

Topics

• Adult
• Alleles
• Alternative Splicing
• Anemia, Hypochromic (blood, genetics)
• Chronic Disease
• DNA Mutational Analysis
• Family Health
• Gene Deletion
• Globins (genetics)
• Hemoglobins (genetics)
• Humans
• Male
• Pedigree
• Phenotype
• Point Mutation
• Protein Subunits (genetics)
• alpha-Thalassemia (blood, genetics)