APC rs137854573 c.C1606T (p.R536X) truncating mutation was previously reported to be related to colorectal cancer, while the novel WAS mutation (chrX:48,542,245, c.G3T) was identified as a new pathogenic variant in HB, leading to truncation involving deletion of the first 1–5 amino acids of the protein. Here, WAS is linked to hemoglobin measurement.