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.
Center of Laboratory Medicine, Kantonsspital Aarau, Aarau, Switzerland.
Martin
M
Hergersberg
Saskia
S
Brunner-Agten
Thomas
T
Kühne
Michael
M
Paulussen
Andreas R
AR
Huber
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