Two New α1-Globin Gene Point Mutations: Hb Nedlands (HBA1:c.86C>T) [α28(B9)Ala→Val] and Hb Queens Park (HBA1:c.98T>A) [α32(B13)Met→Lys]

• Published in: Hemoglobin 2010-04, Vol.34 (2), p.123-126
• Main Authors: Phylipsen, Marion, Prior, John F., Lim, Erna, Lingam, Neela, Finlayson, Jill, Arkesteijn, Sandra G.J., Harteveld, Cornelis L., Giordano, Piero C.
• Format: Article
• Language: English
• Subjects: Abnormal hemoglobin (Hb); α Gene
• ISSN: 0363-0269; 1532-432X
• DOI: 10.3109/03630261003679854

We report two new point mutations of the α1-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 [α28(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 [α32(B13)Met→Lys] which seems to be associated with a mild α-thalassemia (α-thal) phenotype. The phenotype genotype correlation is briefly described.