Codon 4 ACT→ACA, codon 5 CCT→TCT, and codon 6 GAG→TAG mutations in cis position: A form of thalassemia trait
Open Access
- 1 November 1997
- journal article
- case report
- Published by Wiley in American Journal of Hematology
- Vol. 56 (3) , 187-188
- https://doi.org/10.1002/(sici)1096-8652(199711)56:3<187::aid-ajh10>3.0.co;2-8
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 β‐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%). Am. J. Hematol. 56:187–188, 1997.Keywords
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