A new stable alpha chain variant: Hb Basel [alpha14(A12)Trp-->Leu (alpha1)]

Hemoglobin. 2010 Jun;34(3):327-31. doi: 10.3109/03630269.2010.483960.


We describe a heterozygosity for a new missense mutation on the alpha1-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 alpha14(A12)Trp-->Leu (alpha1), 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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Family Health
  • Female
  • Genetic Variation / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense / genetics*
  • Portugal / ethnology
  • Switzerland
  • alpha-Globins / genetics*
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / genetics*


  • alpha-Globins