Abstract
Genetic hemoglobinopathies are the most common single-gene disorder worldwide. Some automated hematology analyzers have the capability of flagging individuals who may have hematological disorders based on complete blood count (CBC) biomarkers. We aimed to evaluate the accuracy of a hematology analyzer in identifying genetic hemoglobinopathies in Cambodian women and to determine which hematological biomarkers are the best predictors. A CBC was completed using a Sysmex XN-1000 analyzer and hemoglobinopathies were determined with capillary hemoglobin electrophoresis for 808 nonpregnant Cambodian women. Sysmex XN-1000 Interpretive Program (IP) messages, which flag potential hematological disorders, were produced from CBC results. Then, 2 × 2 tables were used to determine sensitivity and specificity of the IP message “Hemoglobin defect” to detect a genetic hemoglobinopathy. Receiver operating characteristic (ROC) analyses assessed the diagnostic ability of six CBC biomarkers to predict a genetic hemoglobinopathy. In total, 74% of women had a hemoglobinopathy (predominantly Hb E and α-thalassemia). “Hb defect” IP message sensitivity and specificity for genetic hemoglobinopathy detection were 10.4% and 98.6%, respectively. Variable selection strategies yielded a two-variable model including mean corpuscular volume (MCV) and red blood cell (RBC) count (AIC = 99.83, AUCROC = 0.98 (95% CI: 0.97, 0.99)) for the prediction of a homozygous EE disorder. Sensitivity and specificity values do not justify the use of Sysmex XN-1000 IP flag messages for identification of genetic hemoglobinopathies in Cambodian women. Development of an algorithm based on MCV and RBC biomarkers may optimize the screening ability of automated hematology analyzers.
Highlights
Genetic hemoglobinopathies are autosomal recessive disorders that result from nucleotide substitutions or deletions (e.g., α- or β-thalassemia) in the genes encoding the α- or β-globin chains of hemoglobin [1]
The aims of this study were to evaluate the accuracy of the Interpretive Program (IP) message for hemoglobin defects (“Hb defect”) in identifying Cambodian women with a genetic hemoglobinopathy by comparing these flags to definitive testing performed through hemoglobin electrophoresis and to determine which combination of complete blood count (CBC) biomarkers can best predict the presence of a genetic hemoglobinopathy
In our study among Cambodian women of reproductive age, we found that the Sysmex XN-1000 IP message “Hb defect” was not accurate in flagging women with a genetic hemoglobinopathy
Summary
Genetic hemoglobinopathies are autosomal recessive disorders that result from nucleotide substitutions (e.g., sickle cell or hemoglobin E) or deletions (e.g., α- or β-thalassemia) in the genes encoding the α- or β-globin chains of hemoglobin [1]. In Cambodia, genetic hemoglobinopathies affect approximately half of the population (most common are the hemoglobin E disorder and α-thalassemia) [4,5,6] These hemoglobinopathies can result in decreased or defective hemoglobin production, leading to an increased risk of anemia and other serious health problems [1,7]. Individuals who inherit only one affected allele are termed heterozygous ( referred to as traits), whereas individuals who inherit two affected alleles are termed homozygous, which typically results in a more severe phenotype (e.g., severe anemia)
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