SEVERE HEMOLYTIC-ANEMIA ASSOCIATED WITH VITAMIN-E-DEFICIENCY IN INFANTS WITH CYSTIC-FIBROSIS - IMPLICATIONS FOR NEONATAL SCREENING

Three infants are described with cystic fibrosis (CF) and malnutrition leading to severe anemia beginning as early as 6 weeks of age. Labora tory studies demonstrated high reticulocyte counts, negative Coombs' t ests, abnormal peroxide hemolysis test results, and biochemical eviden ce of vitamin E deficiency. Oral administration of alpha-tocopherol re sulted in rapid correction of the in vitro hemolysis and improvement o f in vivo hematologic indices. Investigation of these patients support s the conclusion that the hemolytic anemia of infancy in CF is caused by vitamin E deficiency and should be treated promptly with 50 IU/day of vitamin E. Because two Of the three patients were identified in a C F screening/surveillance program, we can estimate that the frequency o f clinically significant anemia in CF infants is 4%. Our observations demonstrate a potential advantage of CF neonatal screening for individ ual patients susceptible to vitamin E-deficient hemolytic anemia and s uggest that confirmatory follow-up diagnostic studies, such as sweat t ests, should be performed by 4 to 6 weeks of age.