Sickle cell-Hb Lepore Boston syndrome. Uncommon differential diagnosis to homozygous sickle cell disease.
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.
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
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; C031751:hemoglobin Lepore Boston