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.
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.