syndromic disease sickle cell-hemoglobin E disease syndrome https://github.com/monarch-initiative/mondo/issues/6746 https://www.malacards.org/card/sickle_cell_hemoglobin_e_disease_syndrome MONDO:0016671 HbSE disease GARD:0020700 Orphanet:251375 UMLS:C1112747 A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%). MEDGEN:1669602 inherited hemoglobinopathy