Agarwal, Sarita ; Wei, Li ; Hattori, Yukio ; Agarwal, S. S. (1997) Codon 4 ACT→ACA, codon 5 CCT→TCT, and codon 6 GAG→TAG mutations in cis position: a form of Thalassemia trait American Journal of Hematology, 56 (3). pp. 187-188. ISSN 0361-8609
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Official URL: http://www3.interscience.wiley.com/journal/50494/a...
Related URL: http://dx.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 -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%).
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to John Wiley and Sons, Inc. |
| Keywords: | ARMS; β-globin Gene; Thalassemia Trait; Mutation; Sequencing |
| ID Code: | 167 |
| Deposited On: | 17 Sep 2010 08:35 |
| Last Modified: | 12 May 2011 03:47 |
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