| Literature DB >> 9630774 |
L Chakova1, M Spasova, E 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.Entities:
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Year: 1998 PMID： 9630774
Source DB: PubMed Journal: Folia Med (Plovdiv) ISSN： 0204-8043