Abstract:
:We studied two members of an African American family with erythrocytosis. An abnormal hemoglobin variant with an electrophoretic pattern on cellulose acetate similar to Hb J was identified. The oxygen dissociation curve using whole blood was biphasic, dramatically left-shifted, and hyperbolic. Sequence analysis of DNA from the proband showed heterozygosity for a T-->A change at the first position of codon 145 in the beta-globin gene which results in the substitution of an asparagine residue for normal tyrosine. The second cycle of C-terminal amino acid sequence analysis of a mixture of alpha- and beta-globin chains showed tyrosine, aspartic acid, and small amounts of asparagine. Collectively, these results indicate the existence of a mutation at codon 145 of the beta-globin gene which encodes for asparagine instead of tyrosine, and that asparagine then undergoes a partial posttranslational deamidation to aspartic acid. This amino acid substitution corresponds to Hb Osler, which is a high oxygen affinity hemoglobin variant, initially described to be caused by a substitution of Tyr-->Asp at beta 145. Posttranslational amino acid modification may constitute an important component in the pathophysiology of hemoglobinopathies.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Kattamis AC,Kelly KM,Ohene-Frempong K,Reilly MP,Keller M,Cubeddu R,Adachi K,Surrey S,Fortina Pdoi
10.3109/03630269708997515subject
Has Abstractpub_date
1997-03-01 00:00:00pages
109-20issue
2eissn
0363-0269issn
1532-432Xjournal_volume
21pub_type
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