PMID: 9630774Jun 19, 1998Paper

Thalassemia intermedia in an infant

Folia medica
L ChakovaE Genev

Abstract

We present a case of a two year old infant with jaundice in the neonatal period, anemia and splenohepatomegaly. Hemoglobin electrophoresis of the child and siblings revealed double heterozygosity of Lepore/beta thalassemia in the child and father, and heterozygous beta-thalassemia in the uncle. Structural variants giving rise to thalassemia phenotype are discussed.

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