title: Sickle cell-Hb Lepore Boston syndrome. Uncommon differential diagnosis to homozygous sickle cell disease.
abstract: Two siblings assumed on the basis of clinical and hematological evidence to have homozygous sickle cell (SS) disease were found to have a mother without sickle hemoglobin. Subsequent investigation and hemoglobin structural studies indicated the diagnosis to be sickle cell-Hb Lepore Boston syndrome. This syndrome generally manifests clinically significant sickle cell disease, and this genotype should be borne in mind in apparent SS disease where a parent without sickle hemoglobin in discovered.
mesh_terms: D000596:Amino Acids / Q000032:analysis; D000755:Anemia, Sickle Cell / Q000235:genetics*; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006455:Hemoglobins, Abnormal; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D012805:Sickle Cell Trait / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D013789:Thalassemia / Q000175:diagnosis
chemical_list: D000596:Amino Acids; D006455:Hemoglobins, Abnormal; C031751:hemoglobin Lepore Boston