Codon 4 ACT-->ACA, codon 5 CCT-->TCT, and codon 6 GAG-->TAG mutations in cis position: a form of thalassemia trait.
A female of Uttar Pradesh, of Indian origin, who had a transfusion-dependent child, carried codon 4 ACT-->ACA, codon 5 CCT-->TCT, and codon 6 GAG-->TAG mutations at the cis position. The mutation was detected through sequencing of the amplified beta-globin gene. Heterozygosity is expressed as a thalassemia trait with moderate anemia, low MCV (57 fl), raised HbA2 (6.7%), and normal fetal hemoglobin (1.4%).
Agarwal
S
S
Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Wei
L
L
Hattori
Y
Y
Agarwal
S S
SS
D002675:Child, Preschool; D003062:Codon / Q000235:genetics*; D005260:Female; D005784:Gene Amplification; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D017086:beta-Thalassemia / Q000235:genetics*
D003062:Codon; D005914:Globins