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January 1982

Sickle Cell-Hb LeporeBoston Syndrome: Uncommon Differential Diagnosis to Homozygous Sickle Cell Disease

Author Affiliations

From the Medical Research Council Laboratories, University of the West Indies, Kingston, Jamaica (Drs Stevens and Serjeant and Mss Mason and Serjeant), and the Department of Biochemistry, University of Cambridge (England) (Dr Lehmann).

Am J Dis Child. 1982;136(1):19-22. doi:10.1001/archpedi.1982.03970370021004

• 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)