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