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Hemoglobin pasadena: Identification of the gene mutant by DNA analysis using synthetic DNA probes
Author(s) -
Rahbar Samuel,
Rosen Robert,
Nozari Guity,
Lee Terry D.,
Asmerom Yayesh,
Wallace R. Bruce
Publication year - 1988
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830270310
Subject(s) - hemoglobinopathy , mutant , dna , globin , gene , microbiology and biotechnology , hemoglobin variants , hemoglobin , mutation , biology , gene mutation , genetics , hemolytic anemia , chemistry , biochemistry , immunology
Hemoglobin Pasadena [β75(E19)Leu→Arg] was found in a boy who had an acute episode of anemia and rapid splenic enlargement. His father was the only other member of a large family with this hemoglobinopathy. We have used gene mapping techniques for direct identification of the β‐globin gene mutation. To correlate the DNA findings with the structural identification of this variant, we have also performed globin chain separation and analysis of the tryptic peptides using high performance liquid chromatography and secondary ion mass spectral analysis.