A new G(gamma) chain variant: Hb F-Bron [gamma20(B2)val-->Ala].
A new G(gamma) hemoglobin (Hb) variant, Hb F-Bron [gamma20(B2)Val-->Ala] on the first exon of the G(gamma)-globin gene is described. The variant was characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities included hypochromia and microcytosis and were probably caused by an interaction with an alpha-thalassemia (thal) (3.7 kb) deletion in the heterozygous state.
Lacan
Philippe
P
Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France.
Burnichon
Nelly
N
Becchi
Michel
M
Zanella-Cleon
Isabelle
I
Aubry
Martine
M
Couprie
Nicole
N
Francina
Alain
A
D000747:Anemia, Hypochromic / Q000235:genetics; D004252:DNA Mutational Analysis; D005319:Fetal Hemoglobin / Q000235:genetics*; D014644:Genetic Variation; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D017085:alpha-Thalassemia / Q000235:genetics
D006455:Hemoglobins, Abnormal; C508164:hemoglobin F-Bron; D005914:Globins; D005319:Fetal Hemoglobin