Hb Evora [alpha2-35 (B16), Ser-->Pro], a novel hemoglobin variant associated with an alpha-thalassemia phenotype.
We report a novel mutation in the alpha2-globin gene, codon 35 (T-->C), detected in two unrelated Portuguese families. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant, which we named Hb Evora. This variant seems to be responsible for the alpha-thalassemia phenotype present in its carriers. It cannot be detected by conventional laboratory techniques, probably because of its highly unstable nature.
Gomes
Susana
S
Picanço
Isabel
I
Miranda
Armandina
A
Seixas
Maria Teresa
MT
Oliveira
Mafalda
M
Romão
Luísa
L
Faustino
Paula
P
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D006454:Hemoglobins / Q000235:genetics* / Q000502:physiology*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011174:Portugal; D017085:alpha-Thalassemia / Q000097:blood* / Q000235:genetics*
D006454:Hemoglobins; D006455:Hemoglobins, Abnormal