Cosegregation of mutation in RPS19 gene in 2 families sharing both DBA phenotype and isolated high eADA phenotype. (A) Cosegregation of a donor splice site defect of exon 2 in individuals from family F66 with various clinical presentation: DBA phenotype (individuals III-1, III-2, III-3), silent phenotype restricted to an isolated elevation of eADA activity (individual II-2), and transient erythroblastopenia in individual III-3, with a persistent high eADA activity. The mutation was not found in any of the other family members explored. eADA values are expressed as SD from the mean. Fetal hemoglobin is expressed as a percentage. NA, not available. (B) Cosegregation of a 2-bp deletion in exon 5 in family E10. DBA proband III-4 is transfusion-independent under steroid therapy, whereas individuals II-2 and I-3 never received any treatment, although they were anemic during early childhood. eADA values are expressed as SD from the mean. NA, not available.