Six proteins, dysferlin (DYSF), transporter 1 ATP binding cassette sub-family B (TAP1), major vault protein (MVP), major histocompatibility complex class I A (HLAA) and serine palmitoyltransferase 1 and 2 (SPTLC1, SPTLC2) were found to be present in all four DBA patients but were not detected in the control pools. This evidence concerns the gene SPTLC2 and Diamond-Blackfan anemia.