syndromic disease hereditary persistence of fetal hemoglobin-sickle cell disease syndrome https://github.com/monarch-initiative/mondo/issues/6746 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/hereditary_persistence_of_fetal_hemoglobin_sickle_cell_disease_syndrome Orphanet:251380 HPFH-sickle cell disease syndrome MONDO:0016672 A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF. HGNC:3627 GARD:0018648 MEDGEN:1679967 UMLS:C5190890 HGNC:5153 inherited hemoglobinopathy