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Technical Briefs |
1
California Department of Health Services, Genetic Disease Laboratory, 700 Heinz Ave., Suite 100, Berkeley, CA 94710, and
2
California Department of Health Services, Genetic Disease Branch, Berkeley, CA 94704;
The California newborn screening program requires that all newborns be screened for selected hemoglobinopathies. Dried blood spot (DBS) specimens are analyzed using an automated 2-min cation-gradient HPLC method that is sensitive and specific (1)(2). The standardized method selected by the State allows the screening program to match the quantitative analytical performance of the assay at eight private contract laboratories and a central laboratory. Information technology is designed to derive phenotypes automatically and to use quantitative acceptability limits for quality control and proficiency testing.
The distribution of hemoglobin (Hb) quantities determined by
cation-exchange HPLC in cord blood specimens has been published
previously (3)(4). We have determined the frequency
distributions for the analysis of DBS specimens using the rapid HPLC
screening method. In this study, we examined screening data reported on
4 million nontransfused newborns tested within 2 days of birth. The
frequency distributions were determined for the percentages of Hb
concentrations in 14 phenotypes containing Hbs F, A, S, C, E, and D.
The frequency distributions are available on request. The medians only
are given in Table 1
.
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The percent concentrations in the current study are lower than the
published cord blood data by 15% for all Hb F and by a median 36% for
the Hb in other hetero- and homozygous patterns (range, 2240%). This
may be caused by differences in the HPLC methodology and by chemical
degradation of Hb during formation of
Footnotes
References
The following articles in journals at HighWire Press have cited this article:
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D. D. Mais, R. D. Gulbranson, and D. F. Keren The Range of Hemoglobin A2 in Hemoglobin E Heterozygotes as Determined by Capillary Electrophoresis Am J Clin Pathol, July 1, 2009; 132(1): 34 - 38. [Abstract] [Full Text] [PDF] |
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L. B. Thomas, S. J. Agosti, M. A. Man, and S. M. Mastorides Screening for Hemoglobinopathies During Routine Hemoglobin A1c Testing Using the Tosoh G7 Glycohemoglobin Analyzer Ann. Clin. Lab. Sci., January 1, 2007; 37(3): 251 - 255. [Abstract] [Full Text] [PDF] |
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A. Joutovsky, J. Hadzi-Nesic, and M. A. Nardi HPLC Retention Time as a Diagnostic Tool for Hemoglobin Variants and Hemoglobinopathies: A Study of 60000 Samples in a Clinical Diagnostic Laboratory Clin. Chem., October 1, 2004; 50(10): 1736 - 1747. [Abstract] [Full Text] [PDF] |
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D. B. Richardson, S. Wing, F. Lorey, and I. Hertz-Picciotto Adult Hemoglobin Levels at Birth and Risk of Sudden Infant Death Syndrome Arch Pediatr Adolesc Med, April 1, 2004; 158(4): 366 - 371. [Abstract] [Full Text] [PDF] |
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