Pedigrees of families simultaneously showing DBA and isolated high eADA phenotype. (A) Recombination events occurred on meiosis from individuals III-3 and II-5. Allele sizes for microsatellite D19S200 could not be determined for individuals II-13 and III-13, and they were therefore not included in the haplotype analysis. (B) Unlike the three DBA cases of this family, individual II-1 was previously diagnosed as transient erythroblastopenia, and her mother (I-3) was healthy. (C) DBA index case of this family (patient IV-6) responded to interleukin-3 and is still independent of transfusions and steroids on the long-term follow-up. (D) All three siblings showed high eADA levels (II-1, -2, -3) and have normal blood count and hemoglobin electrophoresis, without known history of anemia. (E) Individuals I-2 and II-3 show classical DBA phenotype. eADA of individual II-2 was found increased at birth and remains over normal limits without any episode of anemia, and no other biological abnormality. eADA measurements of individuals I-1 and I-3 were performed in another laboratory, and results are within normal values for the technique considered. (F) Individual II-3 does not share the same haplotype as the DBA index case of the family. NA, not available.