title: Thalassemia intermedia in an infant.
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.
authors.affiliation: Department of Paediatrics, Higher Medical Institute, Plovdiv, Bulgaria.
authors.forename: L
authors.initials: L
authors.lastname: Chakova
authors.forename: M
authors.initials: M
authors.lastname: Spasova
authors.forename: E
authors.initials: E
authors.lastname: Genev
mesh_terms: D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D010375:Pedigree; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal