[A new case of hemoglobin Lepore-beta-thalassemia disease].
The A. relate on a case of disease from Hb Lepore-heterozygous beta thalassemia observed in an italian family originated from Campania. The patient is a boy 16-year old who shows a clinical picture similar to that of Cooley's disease. The electrophoretic study of the hemoglobin has evidenced a double heterozygosis Hb-Lepore-beta thalassemia. Enlarging the examination to the other components of the strain, also the sister of the propositus shows the same disease, while the brother and the mother get a little amount of Hb Lepore. The father gets heterozygous beta-thalassemia. The negatively of the sickling test "in vitro" excludes tha presence of HbS in all components of the family. The radiological examination of the skeleton of the propositus evidences interesting analogies with the skeleton alterations observed in the subjects affected with Cooley's disease and scarcely blood-transfused.
D000293:Adolescent; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D013902:Radiography, Thoracic; D012886:Skull / Q000000981:diagnostic imaging; D013577:Syndrome; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
D006455:Hemoglobins, Abnormal; C031751:hemoglobin Lepore Boston
Un nuovo caso di malattia da emoglobina lepore-beta talassemia.