Codon 4 ACT-->ACA, codon 5 CCT-->TCT, and codon 6 GAG-->TAG mutations in cis position: a form of thalassemia trait |
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Authors: | S Agarwal L Wei Y Hattori SS Agarwal |
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Affiliation: | Department of Nuclear Medicine, Gunma University, School of Medicine, Japan. |
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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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