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 language||English (US)|
|Number of pages||5|
|Journal||American journal of hematology|
|State||Published - 1996|
- abnormal hemoglobins
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