TY - JOUR
T1 - Hemoglobin S/hemoglobin Osler
T2 - A case with 3 β globin chains. DNA sequence (AAT) proves that Hb Osler is β 145 Tyr→Asn
AU - Hutt, P. Jesse
AU - Donaldson, Milton H.
AU - Khatri, Jamil
AU - Fairbanks, Virgil F.
AU - Hoyer, James D.
AU - Thibodeau, Stephen N.
AU - Moxness, Michael S.
AU - McMorrow, Lydia E.
AU - Green, Michael M.
AU - Jones, Richard T.
PY - 1996
Y1 - 1996
N2 - 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.
AB - 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.
KW - DNA
KW - Osler
KW - PCR
KW - abnormal hemoglobins
KW - deamidation
KW - polycythemia
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U2 - 10.1002/(SICI)1096-8652(199608)52:4<305::AID-AJH10>3.0.CO;2-C
DO - 10.1002/(SICI)1096-8652(199608)52:4<305::AID-AJH10>3.0.CO;2-C
M3 - Article
C2 - 8701949
AN - SCOPUS:9544220698
VL - 52
SP - 305
EP - 309
JO - American Journal of Hematology
JF - American Journal of Hematology
SN - 0361-8609
IS - 4
ER -