β-Globin Gene Sequencing of Hemoglobin Austin Revises the Historically Reported Electrophoretic Migration Pattern

• DOI: 10.5858/arpa.2013-0105-oa
• Publication Date: 2014-05-30T20:35:26Z
• Authors: Lori D. Racsa; Hung S. Luu; Jason Y. Park; Midori Mitui; Charles F. Timmons
• Keywords: Hemoglobin variants; Cellulose acetate; Hemoglobin A2; Hemoglobin A

Context.—Hemoglobin (Hb) Austin was defined in 1977, using amino acid sequencing of samples from 3 unrelated Mexican-Americans, as a substitution serine for arginine at position 40 the β-globin chain (Arg40Ser). Its electrophoretic migration on both cellulose acetate (pH 8.4) and citrate agar 6.2) reported between Hb F A, this description persists reference literature. Objectives.—To review clinical features redefine diagnostic characteristics Austin. Design.—Eight 6 individuals 2 siblings, all with Hispanic surnames, were submitted abnormal identification June 2010 September 2011. High-performance liquid chromatography, isoelectric focusing (IEF), electrophoresis, bidirectional DNA entire gene performed. Results.—DNA confirmed 8 to be heterozygous Retention time high-performance chromatography electrophoresis consistent that identification. Migration IEF, however, not predicted report electrophoresis. By migrated anodal (“faster than”) A. Conclusions.—Hemoglobin (Arg40Ser) appears IEF “fast,” anodally migrating, variant, just would expected its substitution. The cited historic is, best, applicable is probably erroneous. Our observation cases 16 months suggests variant may relatively common some populations, making recognition important. Furthermore, proving itself powerful reliable tool definitive variants.