A number of transcription factors including RUNX1, GATA2, GFI1, HOXA3, SOX17, and TAL1, and NOTCH, WNT, and BMP/TGF-β signaling have been implicated in control of HE and blood development (reviewed in Slukvin, 2016, Swiers et al., 2013b, Thambyrajah et al., 2016b). The gene discussed is SOX17; the disease is hereditary elliptocytosis.