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Hemoglobin S/hemoglobin Osler: A case with 3 β globin chains. DNA sequence (AAT) proves that Hb Osler is β 145 Tyr→Asn
Author(s) -
Hutt P. Jesse,
Donaldson Milton H.,
Khatri Jamil,
Fairbanks Virgil F.,
Hoyer James D.,
Thibodeau Stephen N.,
Moxness Michael S.,
McMorrow Lydia E.,
Green Michael M.,
Jones Richard T.
Publication year - 1996
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(199608)52:4<305::aid-ajh10>3.0.co;2-c
Subject(s) - deamidation , exon , globin , hemoglobin , genetics , gene , microbiology and biotechnology , mutation , biology , dna , chemistry , biochemistry , enzyme
A 13‐year‐old African‐American female with erythrocytosis and three different β globins on electrophoresis β A , β S , and β Osler , raised the possibility that one chromosome 11 might contain a duplicated β globin gene, since there are normally only 2 β 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 substitution of Asn for Tyr. Thus, Hb Osler undergoes spontaneous post‐translational deamidation, β 145 Asn→β 145 Asp. Unmodified Hb Osler (Asn) co‐migrates with Hb A on electrophoresis and co‐elutes with Hb A on HPLC; therefore it has not been identified previously. All previous studies have incorrectly identified the mutation as being β 145 (HC 2) Tyr→Asp. © 1996 Wiley‐Liss, Inc.