Ricci G, Scutellari P N, Franceschini F, Gualandi G
Minerva Med. 1982 Feb 11;73(5):191-7.
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.
本文报告了一例起源于坎帕尼亚的意大利家庭中观察到的血红蛋白 Lepore 杂合子β地中海贫血病例。患者为一名 16 岁男孩，临床表现与库利氏病相似。血红蛋白的电泳研究证实了 Hb-Lepore-β地中海贫血的双重杂合性。对该家系其他成员进行检查发现，先证者的妹妹也患有同样的疾病，而其兄弟和母亲有少量 Hb Lepore。父亲为杂合子β地中海贫血。“体外”镰状试验阴性排除了该家系所有成员中存在 HbS 的可能性。先证者骨骼的放射学检查显示出与库利氏病患者及少量输血患者所观察到的骨骼改变有趣的相似之处。
