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].

Abstract

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.

• Authors: Karen G Scheps, Amanda Binaghi, Viviana Varela
• Journal: Hemoglobin (Hemoglobin) Vol. 36 Issue 5 Pg. 504-7 ( 2012) ISSN: 1532-432X [Electronic] England
• PMID: 22738642 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Glycated Hemoglobin A
• Hemoglobins, Abnormal
• RNA Splice Sites
• hemoglobin Riccarton

Topics

• Aged, 80 and over
• Amino Acid Substitution
• Base Sequence
• Female
• Gene Order
• Genotype
• Glycated Hemoglobin (genetics)
• Hemoglobins, Abnormal (genetics)
• Humans
• Mutation
• RNA Splice Sites
• alpha-Thalassemia (diagnosis, genetics)