ASCERTAINING GENETIC CARRIERS OF HEREDITARY SPHEROCYTOSIS BY STATISTICAL ANALYSIS OF MULTIPLE LABORATORY TESTS*

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Abstract
One hundred eighty-one persons from 26 families were investigated using erythrocyte indices, hemoglobin, reticulocyte count, bilirubin, osmotic fragility, mechanical fragility, autohemolysis, autohemolysis with glucose, and autohemolysis with adenosine. Data were manipulated in an IBM-650 computer using Fischer''s discriminant function. Correlations of single tests suggested that not all the measurements were required to diagnose family members after the propositus was identified. There was impressive agreement between physicians-* diagnoses and computer decision when the problem was to discriminate between affected and non-affected family members. Multiple correlation coefficients and comparison of discriminants showed that 97% of the cases could be correctly diagnosed using a discriminant comprised of 4 simple tests: spherocyte score, reticulocytes, hemoglobin and bilirubin. Genetic data from this study demonstrated an incidence of 0.51 [plus or minus] 0.042, in good agreement with the predicted 0.50 for a simple dominant trait. However, there was an excess of males, which becomes significant when these data are pooled with those of contemporary workers.