Thalassemia intermedia in an infant
Chakova, L.; Spasova, M.; Genev, E.
Folia Medica 40(1): 84-87
1998
ISSN/ISBN: 0204-8043 PMID: 9630774 Document Number: 486179
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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