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Codon 4 ACT-->ACA, codon 5 CCT-->TCT, and codon 6 GAG-->TAG mutations in cis position: a form of thalassemia trait.

Authors
Type
Published Article
Journal
American journal of hematology
Publication Date
Volume
56
Issue
3
Pages
187–188
Identifiers
PMID: 9371533
Source
Medline
License
Unknown

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%).

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