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Severe hemolytic anemia associated with vitamin E deficiency in infants with cystic fibrosis. Implications for
B S Wilfond1, P M Farrell, A Laxova
1Department of Pediatrics, University of Wisconsin-Madison 53792-4108.
Insights
Cystic fibrosis (CF) infants can develop severe anemia due to vitamin E deficiency. Prompt oral alpha-tocopherol treatment rapidly corrects this condition, highlighting the importance of early diagnosis and intervention.
Area of Science:
- Pediatrics
- Hematology
- Nutritional Science
Background:
- Cystic Fibrosis (CF) is a genetic disorder that can lead to malnutrition.
- Severe anemia has been observed in infants with CF.
- The underlying cause of anemia in these cases was investigated.
Observation:
- Three infants with CF and malnutrition presented with severe anemia by 6 weeks of age.
- Laboratory findings included high reticulocyte counts, negative Coombs' tests, abnormal peroxide hemolysis, and vitamin E deficiency.
- These symptoms suggest a link between CF, malnutrition, and hemolytic anemia.
Findings:
- The hemolytic anemia observed in CF infants is strongly associated with vitamin E deficiency.
- Oral administration of alpha-tocopherol (vitamin E) led to rapid improvement in hemolysis and hematologic indices.
- The frequency of clinically significant anemia in CF infants is estimated at 4%.
Implications:
- Early diagnosis of vitamin E-deficient hemolytic anemia in CF infants is crucial.
- Neonatal CF screening can identify at-risk infants for this specific complication.
- Confirmatory diagnostic studies, like sweat tests, should be conducted by 4-6 weeks of age for infants identified through screening.
Abstract:
Three infants are described with cystic fibrosis (CF) and malnutrition leading to severe anemia beginning as early as 6 weeks of age. Laboratory studies demonstrated high reticulocyte counts, negative Coombs' tests, abnormal peroxide hemolysis test results, and biochemical evidence of vitamin E deficiency. Oral administration of alpha-tocopherol resulted in rapid correction of the in vitro hemolysis and improvement of in vivo hematologic indices. Investigation of these patients supports 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 CF screening/surveillance program, we can estimate that the frequency of clinically significant anemia in CF infants is 4%. Our observations demonstrate a potential advantage of CF neonatal screening for individual patients susceptible to vitamin E-deficient hemolytic anemia and suggest that confirmatory follow-up diagnostic studies, such as sweat tests, should be performed by 4 to 6 weeks of age.
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