title: Codon 4 ACT-->ACA, codon 5 CCT-->TCT, and codon 6 GAG-->TAG mutations in cis position: a form of thalassemia trait.
abstract: 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%).
authors.affiliation: Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
authors.forename: S
authors.initials: S
authors.lastname: Agarwal
authors.forename: L
authors.initials: L
authors.lastname: Wei
authors.forename: Y
authors.initials: Y
authors.lastname: Hattori
authors.forename: S S
authors.initials: SS
authors.lastname: Agarwal
mesh_terms: 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*
chemical_list: D003062:Codon; D005914:Globins