Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys].

Abstract

We report two new point mutations of the alpha1-globin gene found in a Greek and a Burmese patient, both living in Western Australia. The patients were initially selected for their microcytic hypochromic parameters as belonging to a group suspected for uncommon (deletion) defects. Gap-polymerase chain reaction (gap-PCR) and multiplex ligation-dependent probe amplification (MLPA) technologies were applied, and in those cases not showing deletions, direct sequencing was performed. We have found 1) HBA1:c.86C>T, Hb Nedlands [alpha28(B9)Ala-->Val] which, based on the red cell indices and phenotype prediction scores, is presumed to be clinically silent, and 2) HBA1:c.98T>A, Hb Queens Park [alpha32(B13)Met-->Lys] which seems to be associated with a mild alpha-thalassemia (alpha-thal) phenotype. The phenotype/genotype correlation is briefly described.

• Authors: Marion Phylipsen, John F Prior, Erna Lim, Neela Lingam, Jill Finlayson, Sandra G J Arkesteijn, Cornelis L Harteveld, Piero C Giordano
• Journal: Hemoglobin (Hemoglobin) Vol. 34 Issue 2 Pg. 123-6 (Jan 2010) ISSN: 1532-432X [Electronic] England
• PMID: 20353346 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins, Abnormal
• alpha-Globins
• hemoglobin Nedlands
• hemoglobin Queens Park

Topics

• Adult
• Aged
• Amino Acid Substitution
• Anemia, Hypochromic (genetics)
• Australia
• Chromatography, High Pressure Liquid
• Cohort Studies
• Greece (ethnology)
• Hemoglobins, Abnormal (genetics, isolation & purification)
• Humans
• Male
• Mutation, Missense
• Myanmar (ethnology)
• Point Mutation
• Polymerase Chain Reaction
• Sequence Analysis, DNA
• Western Australia
• alpha-Globins (genetics)
• alpha-Thalassemia (genetics)