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Compound heterozygosity for Hb E and Hb Lepore-Hollandia in India; first report and potential diagnostic pitfalls



Compound heterozygosity for Hb E and Hb Lepore-Hollandia in India; first report and potential diagnostic pitfalls



Hemoglobin 29(3): 221-224



A compound heterozygous state of Hb E (beta 26(B8)Glu -> Lys) with Hb Lepore is rare with very few cases reported in the literature. This report describes the first such case from India. The clinical features and hemoglobin (Hb) analysis mimic Hb E-beta-thalassemia (thal) but with a mild phenotype. Detection was made possible in this case because DNA analysis gave discrepant results suggestive of homozygous Hb E.

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Accession: 011890590

Download citation: RISBibTeXText

PMID: 16114186

DOI: 10.1081/hem-200066327


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