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- W2076216011 abstract "Screening for α⁰-thalassemia is usually associated with a high false-positive rate, leading to an unnecessary PCR workload for accurate diagnosis. We have developed a modified Hb H inclusion test for use as a secondary screening. This test was performed on young red blood cell enriched fractions using dextran sedimentation. The study was performed in 100 subjects positive on initial screening. Confirmatory tests included Hb analysis and a multiplex PCR assay to identify α⁰-thalassemia deletions. A modified Hb H inclusion test was positive in 31 cases, 30 of whom were α⁰-thalassemia carriers (97%). The remaining case (3.0%) was homozygous for α<sup>+</sup>-thalassemia. The remaining 69 cases with a negative Hb H inclusion test included normal subjects, α<sup>+</sup>-thalassemia carriers and β-thalassemia carriers. Two of them (2/69, 3.0%) were found to be double heterozygotes for β⁰-thalassemia and α⁰-thalassemia. The overall sensitivity and specificity of the modified Hb H inclusion test for screening of α⁰-thalassemia were 94.0 and 99.0%, respectively. Therefore, we recommend the use of this test in combination with Hb analysis to exclude cases with αβ-thalassemia. This should lead to a significant reduction in the number of cases referred for PCR analysis of α⁰-thalassemia by about 50.0%." @default.
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- W2076216011 date "2013-12-13" @default.
- W2076216011 modified "2023-09-23" @default.
- W2076216011 title "A Newly Modified Hemoglobin H Inclusion Test as a Secondary Screening for α⁰-Thalassemia in Southeast Asian Populations" @default.
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- W2076216011 doi "https://doi.org/10.1159/000355187" @default.
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