Similarly, we found apparently healthy homozygous carriers for other four recessive variants, reported as pathogenic in HGMD, but not in ClinVar (rs61755431 in PKLR for pyruvate kinase deficiency or red cells, rs138156467 in CSF3R for neutropenia, rs61745086 in PIEZO1 for dehydrated stomatocytosis and rs41316003 in JAK2 for erythrocytosis and thrombocytosis). The gene discussed is JAK2; the disease is Hemolytic anemia due to red cell pyruvate kinase deficiency.