• 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 LeporeBoston 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 is discovered.
(Am J Dis Child 1982;136:19-22)
Stevens MCG, Lehmann H, Mason KP, Serjeant BE, Serjeant GR. Sickle Cell-Hb LeporeBoston Syndrome: Uncommon Differential Diagnosis to Homozygous Sickle Cell Disease. Am J Dis Child. 1982;136(1):19–22. doi:10.1001/archpedi.1982.03970370021004
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