那不勒斯（CD 126β+ GGT→GGG）：意大利南部坎帕尼亚地区一项筛查的结果。
Neapolis (CD 126 beta+ GGT->GGG): a result of a screening in Campania, a region in Southern Italy.
作者信息
Pagano Leonilde, Viola Assunta, Fioretti Gennaro, Ammirabile Massimiliano, Ricchi Paolo, Prossomariti Luciano
机构信息
UOS, Diagnosi delle Talassemie, UOC di Microcitemia, Azienda Ospedaliera di Rilievo Nazionale A. Cardarelli, Napoli, Italy.
出版信息
Haematologica. 2007 Jul;92(7):990-1. doi: 10.3324/haematol.10970.
Between January 1995 and December 2005, we conducted a screening program for the presence of Hb Neapolis, a rare abnormal Hb variant, in Campania, a region in Southern Italy. Nineteen patients with Hb Neapolis in heterozygosis and six patients with a genetic compound (Hb Neapolis/beta-thalassemia) were identified. Patients with Hb Neapolis in heterozygosis showed a slight alteration in HbA2 levels while compounds showed typical characteristics of thalassemia intermedia ranging from a non transfusion-dependent form for five patients to a transfusion-dependent form for one adult patient.
1995年1月至2005年12月期间，我们在意大利南部坎帕尼亚地区开展了一项针对罕见异常血红蛋白变体Hb Neapolis存在情况的筛查项目。共鉴定出19例杂合子型Hb Neapolis患者和6例基因复合型（Hb Neapolis/β地中海贫血）患者。杂合子型Hb Neapolis患者的HbA2水平有轻微改变，而复合型患者表现出中间型地中海贫血的典型特征，从5例非输血依赖型到1例成年输血依赖型。
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