Abstract
We describe the characterization of an α+-thalassaemia determinant as a result of a transition of G→A of the donor splice consensus site sequence of the first intron of the α1-globin gene (α1IVS I-1). The mutation was found in combination with the South-East Asian α0-thalassaemia deletion in an haemoglobin (Hb)H patient and her sister, both of Thai origin. Sequencing of the abnormally spliced mRNA product revealed the presence of a cryptic splice site in exon 1 of the α1-globin gene. No normally spliced α1mRNA was detected. The abnormally spliced mRNA product from the α1-gene carrying the mutation does not lead to functional protein and causes a mild HbH-disease phenotype when in combination with the deletion type α0-thalassaemia.
Original language | English |
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Pages (from-to) | 694-698 |
Number of pages | 5 |
Journal | British Journal of Haematology |
Volume | 110 |
Issue number | 3 |
DOIs | |
Publication status | Published - 2000 |
Keywords
- α-globin gene
- α-thalassaemia
- Haemoglobinopathy
- HbH disease
- Splice donor site mutation
ASJC Scopus subject areas
- Hematology