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

doi:10.1002/(SICI)1096-8652(199608)52:4<305::AID-AJH10>3.0.CO;2-C

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

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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 language	English (US)
Pages (from-to)	305-309
Number of pages	5
Journal	American journal of hematology
Volume	52
Issue number	4
DOIs	https://doi.org/10.1002/(SICI)1096-8652(199608)52:4<305::AID-AJH10>3.0.CO;2-C
State	Published - 1996

Keywords

DNA
Osler
PCR
abnormal hemoglobins
deamidation
polycythemia

ASJC Scopus subject areas

Hematology

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10.1002/(SICI)1096-8652(199608)52:4<305::AID-AJH10>3.0.CO;2-C

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Hutt, P. J., Donaldson, M. H., Khatri, J., Fairbanks, V. F., Hoyer, J. D., Thibodeau, S. N., Moxness, M. S., McMorrow, L. E., Green, M. M., & Jones, R. T. (1996). Hemoglobin S/hemoglobin Osler: A case with 3 β globin chains. DNA sequence (AAT) proves that Hb Osler is β 145 Tyr→Asn. American journal of hematology, 52(4), 305-309. https://doi.org/10.1002/(SICI)1096-8652(199608)52:4<305::AID-AJH10>3.0.CO;2-C

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

In: American journal of hematology, Vol. 52, No. 4, 1996, p. 305-309.

Research output: Contribution to journal › Article › peer-review

Hutt, PJ, Donaldson, MH, Khatri, J, Fairbanks, VF, Hoyer, JD , Thibodeau, SN, Moxness, MS, McMorrow, LE, Green, MM & Jones, RT 1996, 'Hemoglobin S/hemoglobin Osler: A case with 3 β globin chains. DNA sequence (AAT) proves that Hb Osler is β 145 Tyr→Asn', American journal of hematology, vol. 52, no. 4, pp. 305-309. https://doi.org/10.1002/(SICI)1096-8652(199608)52:4<305::AID-AJH10>3.0.CO;2-C

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. / Hemoglobin S/hemoglobin Osler : A case with 3 β globin chains. DNA sequence (AAT) proves that Hb Osler is β 145 Tyr→Asn. In: American journal of hematology. 1996 ; Vol. 52, No. 4. pp. 305-309.

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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.",

keywords = "DNA, Osler, PCR, abnormal hemoglobins, deamidation, polycythemia",

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

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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

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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.

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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

Abstract

Keywords

ASJC Scopus subject areas

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