Russo-Mancuso G, Romeo M A, Guardabasso V, Schilirò G
Divisione di Ematologia ed Oncologia Pediatrica, Università, di Catania, Italy.
Haematologica. 1998 Oct;83(10):875-81.
The present study was designed to determine the distribution and severity of sickle cell disease (SCD) in Italy.
A questionnaire, requesting information about the cases of sickle cell disease that had been seen during previous years, was sent to all Italian centers of Pediatrics and Hematology. The questionnaire was simple and required personal, hematologic and clinical information.
A total of 696 cases were reported. The distribution of registered patients shows that, although the S gene originated mostly in Sicily and Southern Italy, 20% of patients with SCD now live in Central and Northern Italy. The types of SCD reported were as follows: compound heterozygotes HbS-beta thalassemia, (S-Th, 518 cases); homozygotes for HbS, (S-S, 149 cases); compound heterozygotes HbS and another abnormal hemoglobin (21 cases). The population of patients with SCD is younger than the general Italian population. More than 90% of patients have had no crises or only a limited number, namely, up to 6/year. Infections ranged between 0 and 6/year. Splenomegaly was reported in 28% and 80% of adult patients with S-S and S-Th, respectively. The prevalence of gallstones was 48%.
The survey established that 1) sickle cell disease is widely distributed in Italy; 2) while the clinical spectrum is extremely variable, severe forms are infrequent.
本研究旨在确定意大利镰状细胞病（SCD）的分布情况及严重程度。
向意大利所有儿科与血液学中心发送了一份问卷，询问有关前几年所诊治镰状细胞病病例的信息。该问卷简单，要求提供个人、血液学及临床信息。
共报告696例病例。已登记患者的分布情况显示，尽管S基因大多起源于西西里岛和意大利南部，但现在20%的镰状细胞病患者生活在意大利中部和北部。报告的镰状细胞病类型如下：复合杂合子HbS-β地中海贫血（S-Th，518例）；HbS纯合子（S-S，149例）；HbS与另一种异常血红蛋白的复合杂合子（21例）。镰状细胞病患者群体比意大利普通人群年轻。超过90%的患者未发生过危机或仅发生过有限次数的危机，即每年最多6次。感染次数每年在0至6次之间。分别有28%的S-S型成年患者和80%的S-Th型成年患者报告有脾肿大。胆结石患病率为48%。
该调查表明：1）镰状细胞病在意大利广泛分布；2）虽然临床谱极为多样，但严重形式并不常见。
