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Hemoglobin S/hemoglobin Osler: a case with 3 beta globin chains. DNA sequence (AAT) proves that Hb Osler is beta 145 Tyr-->Asn.

American journal of hematology - 1 Aug 1996

Hutt P J, Donaldson M H, Khatri J, Fairbanks V F, Hoyer J D, Thibodeau S N, Moxness M S, McMorrow L E, Green M M, Jones R T

Abstract excerpt

A 13-year-old African-American female with erythrocytosis and three different beta globins on electrophoresis beta A, beta S, and beta Osler, raised the possibility that one chromosome 11 might contain a duplicated beta globin gene, since there are normally only 2 beta globin genes. DNA sequence analysis showed GTG at codon 6 in exon 1, corresponding to Hb S and AAT at codon 145 in exon 3, indicating a...

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PMID: 8701949
DOI: 10.1002/(SICI)1096-8652(199608)52:4<305::AID-AJH10>3.0.CO;2-C

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