A new stable alpha chain variant: Hb Basel [alpha14(A12)Trp-->Leu (alpha1)].
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.
Hergersberg
Martin
M
Center of Laboratory Medicine, Kantonsspital Aarau, Aarau, Switzerland.
Brunner-Agten
Saskia
S
Kühne
Thomas
T
Paulussen
Michael
M
Huber
Andreas R
AR
D000293:Adolescent; D005192:Family Health; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D011174:Portugal / Q000208:ethnology; D013557:Switzerland; D055542:alpha-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D055542:alpha-Globins