[Hematologic characterization and analysis of genetic transmission in a case of double heterozygosity Hb Lepore/beta-thalassemia].
Double heterozygosis condition for hemoglobin variants induce clinical syndromes known as intermediate thalassemias. Their diagnosis is often of certain difficulty because of their low frequency and heterogeneity of clinical expressions. We report a case of a 4 year child admitted to our medical center with a story of hepatosplenomegaly. An appropriate hematological study on patient's family permitted a diagnosis of double heterozygosis for Hb Lepore and beta-thalassemia. Results of hematological investigation are reported.
D002675:Child, Preschool; D004586:Electrophoresis; D006441:Hemoglobin A / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D006441:Hemoglobin A
Caratterizzazione ematologica e analisi della trasmissione genetica di un caso di doppia eterozigosi Hb Lepore/beta-talassemia.