Hemoglobin S/hemoglobin Osler: A case with 3 β globin chains. DNA sequence (AAT) proves that Hb Osler is β 145 Tyr→Asn

P. Jesse Hutt, Milton H. Donaldson, Jamil Khatri, Virgil F. Fairbanks, James D. Hoyer, Stephen N. Thibodeau, Michael S. Moxness, Lydia E. McMorrow, Michael M. Green, Richard T. Jones

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8 Scopus citations


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 e 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 ASh 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.

Original languageEnglish (US)
Pages (from-to)305-309
Number of pages5
JournalAmerican journal of hematology
Issue number4
StatePublished - Sep 11 1996



  • DNA
  • Osler
  • PCR
  • abnormal hemoglobins
  • deamidation
  • polycythemia

ASJC Scopus subject areas

  • Hematology

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