Abstract |
We describe a case of beta-thalassemia (thal) trait in which the patient also carries a novel delta chain variant due to a missense mutation at amino acid codon 13 (GCC-->GAC, Ala-->Asp). The level of Hb A2 was not elevated, raising the potential for misdiagnosis.
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Authors | Lynda Walker, Margie Patterson, Barry Eng, Andrew McFarlane, John S Waye |
Journal | Hemoglobin
(Hemoglobin)
Vol. 29
Issue 4
Pg. 285-7
( 2005)
ISSN: 0363-0269 [Print] England |
PMID | 16370490
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Hemoglobins, Abnormal
- hemoglobin A2-Mumc
- Hemoglobin A2
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Topics |
- Adult
- Genotype
- Hemoglobin A2
(analysis, genetics)
- Hemoglobins, Abnormal
(genetics)
- Humans
- Male
- Mutation, Missense
- Point Mutation
- Polymorphism, Single Nucleotide
- beta-Thalassemia
(genetics)
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