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Application of an expanded multiplex genotyping assay for the simultaneous detection of Hemoglobin Constant Spring and common deletional α‐thalassemia mutations
Author(s) -
KIDD J. L.,
AZIMI M.,
LUBIN B.,
VICHINSKY E.,
HOPPE C.
Publication year - 2010
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/j.1751-553x.2009.01197.x
Subject(s) - genotyping , genotype , thalassemia , multiplex , medicine , multiplex polymerase chain reaction , population , genetics , biology , microbiology and biotechnology , polymerase chain reaction , gene , environmental health
Summary Hemoglobin Constant Spring (HbCS) is the most common nondeletional α‐thalassemia variant causing HbH disease, making its detection crucial in populations at risk. Universal newborn screening for HbH is carried out in California. Identification of α‐thalassemia genotypes responsible for HbH and HbH‐CS requires rapid, accurate and cost‐effective genotyping methods suitable for population screening. We incorporated the HbCS mutation into our existing seven‐plex genotyping assay for common α‐thalassemia deletions. To assess the feasibility and diagnostic utility of this expanded multiplex gap‐PCR assay, we determined genotypic frequencies of HbCS in samples referred for α‐thalassemia testing between 1 January 2006 and 31 December 2008. During the 3‐year study period, 1436 samples were genotyped for α‐thalassemia. HbH‐CS accounted for 23 (13%) of the 176 cases of HbH disease identified. In a subset of 145 newborns referred by the California NBS program with an elevated Hb Bart’s level at birth, HbH disease was confirmed in 134 (93%) and HbH‐CS identified in 13 (10%) of these. This expanded genotyping assay has proven to be a rapid, reliable and clinically useful diagnostic tool for the detection of HbH‐CS disease.