| Autor: |
Elliott Vichinsky, Carolyn Hoppe, J. L. Kidd, Mahin Azimi, Bertram H. Lubin |
| Rok vydání: |
2009 |
| Předmět: |
|
| Zdroj: |
International Journal of Laboratory Hematology. 32:373-380 |
| ISSN: |
1751-5521 |
| DOI: |
10.1111/j.1751-553x.2009.01197.x |
| Popis: |
Hemoglobin Constant Spring (HbCS) is the most common nondeletional alpha-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 alpha-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 alpha-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 alpha-thalassemia testing between 1 January 2006 and 31 December 2008. During the 3-year study period, 1436 samples were genotyped for alpha-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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
Plný text