Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]
We report two point mutations found in a heterozygous state on the HBA1 gene of an 88-year-old Argentinean patient with an α+- thalassemia (α+-thal) phenotype: Hb Riccarton HBA1:c.154G>A) [α51(CE9)Gly→Ser] and a novel mutation, HBA1:c.301-2A>T that affects the splicing acceptor site of the second in...
| Authors: | ; ; |
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| Format: | Article |
| Status: | Published version |
| Publication date: | 2012 |
| Country: | Argentina |
| Institution: | Consejo Nacional de Investigaciones Científicas y Técnicas |
| Repository: | CONICET Digital (CONICET) |
| Language: | English |
| OAI Identifier: | oai:ri.conicet.gov.ar:11336/67353 |
| Online Access: | http://hdl.handle.net/11336/67353 |
| Access Level: | Open access |
| Keyword: | Α-Thalassemia (Α-Thal) Genetics Hba1 Nondeletional Mutation https://purl.org/becyt/ford/3.3 https://purl.org/becyt/ford/3 |
| Summary: | We report two point mutations found in a heterozygous state on the HBA1 gene of an 88-year-old Argentinean patient with an α+- thalassemia (α+-thal) phenotype: Hb Riccarton HBA1:c.154G>A) [α51(CE9)Gly→Ser] and a novel mutation, HBA1:c.301-2A>T that affects the splicing acceptor site of the second intron and leads to a non functional α-globin chain. Cloning of the HBA1 PCR (polymerase chain reaction) product and direct sequencing of the clones revealed that both mutations were in cis. |
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