A New Stable α Chain Variant: Hb Basel [α14(A12)Trp→Leu (α1)]

Abstract

We describe a heterozygosity for a new missense mutation on the α1-globin gene of an 18-year-old woman of Portuguese ancestry with severe hypochromic anemia and iron deficiency. Hemoglobin (Hb) analysis by high performance liquid chromatography (HPLC) found a prominent peak constituting about 12% of total Hb. Sequencing of the globin genes of the index patient found the mutation α14(A12)Trp→Leu (α1), HBA1:c.44G<T. We identified the same mutation in blood and DNA of the mother, which provides evidence that the variant is stable and does not have direct pathophysiological or hematological consequences.

Keywords:

• Hemoglobin (Hb) variant
• α1-Globin gene mutation
• Hb Basel

ACKNOWLEDGMENTS

We are grateful to S. Kiessling, A. Ohanessian and S. Simonen (Center of Laboratory Medicine, Kantonsspital Aarau, Switzerland) for expert technical help.

Declaration of Interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.