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

Research output: Contribution to journalArticle

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Abstract

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
Volume52
Issue number4
DOIs
StatePublished - Sep 11 1996

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Keywords

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

ASJC Scopus subject areas

  • Hematology

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