Mutations on the α2-Globin Gene That May Trigger α(+)-Thalassemia.
In the present study, a total of 11 individuals with hypochromic microcytic anemia who did not reveal the most common α-thalassemia (α-thal) deletions or mutations, were subjected to more investigations by DNA sequencing of the α-globin genes. Seven novel nondeletional α-thal mutations localized on the α2-globin gene in the heterozygous state were identified. These mutations either corrupted regulatory splice sites and consequently affected RNA processing or created unstable hemoglobin (Hb) variants. The mutations described here produced globin gene variants that lead to amino acid changes in critical regions of the globin chain. The clinical presentation of most patients was a persistent mild microcytic anemia similar to an α(+)-thal. In the last decade, numerous α-globin mutations have been observed leading to an α-thal phenotype and these studies have been considered to be important as discussed here.
a Genetics Research Centre, University of Social Welfare & Rehabilitation Sciences , Tehran , Iran .|b Kariminejad-Najmabadi Pathology & Genetics Centre , Tehran , Iran.
Samaneh
S
Farashi
b Kariminejad-Najmabadi Pathology & Genetics Centre , Tehran , Iran.
Shadi
S
Vakili
b Kariminejad-Najmabadi Pathology & Genetics Centre , Tehran , Iran.
Negin F
NF
Garous
b Kariminejad-Najmabadi Pathology & Genetics Centre , Tehran , Iran.
Mehri
M
Ashki
b Kariminejad-Najmabadi Pathology & Genetics Centre , Tehran , Iran.
Hashem
H
Imanian
b Kariminejad-Najmabadi Pathology & Genetics Centre , Tehran , Iran.|c Iranian Blood Transfusion Organization, High Institute for Transfusion Research Centre , Tehran , Iran.
Azita
A
Azarkeivan
a Genetics Research Centre, University of Social Welfare & Rehabilitation Sciences , Tehran , Iran .|b Kariminejad-Najmabadi Pathology & Genetics Centre , Tehran , Iran.
Hossein
H
Najmabadi
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D019295:Computational Biology / Q000379:methods; D004909:Erythrocyte Indices; D005091:Exons; D005260:Female; D023061:Gene Order; D056426:Genetic Loci; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D017384:Sequence Deletion; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*
D055542:alpha-Globins
hypochromic microcytic anemia; premature stop codon; α-Thalassemia (α-thal); α2-globin gene