Stevens M C, Lehmann H, Mason K P, Serjeant B E, Serjeant G R
Am J Dis Child. 1982 Jan;136(1):19-22.
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.
根据临床和血液学证据推测患有纯合子镰状细胞（SS）病的两名同胞，其母亲却没有镰状血红蛋白。后续调查和血红蛋白结构研究表明诊断为镰状细胞-Hb Lepore波士顿综合征。该综合征通常表现为具有临床意义的镰状细胞病，在发现父母一方没有镰状血红蛋白的明显SS病病例中应考虑到这种基因型。
