Cladera Serra A, Oliva Berini E, Torrent Quetglas M, Bartolozzi Castilla E
Servicio de Hematología y Hemoterapia, Hospital Verge del Toro, Area de Salud Pública de Menorca.
Sangre (Barc). 1997 Oct;42(5):363-7.
The G6PD deficiency is a red cell enzymopathy very frequent in certain Mediterranean countries. In Menorca (Balearic Islands), a relatively high incidence of favism carried us to study the prevalence of this alteration, taking advantage of the "Campaign for detection of heterozygous beta-thalassaemia to prevent the homozygous beta-thalassaemia" that we make annually.
We studied a total of 1139 school boys between 13-14 years old for three consecutive school years. We used the methylene blue as screening test and the deficiency of G6PD was confirmed with enzymatic quantification in the haemolysate. We also analysed the clinical manifestations and studied the relatives.
We have confirmed 11 cases of G6PD deficiency (prevalence of 9.7/1000), all of them native of the island. The clinical manifestations were: in 6 cases (54.5%) no clinical manifestations were found, 5 cases (45.4%) had presented neonatal jaundice and 2 cases (18.2%) had suffered a favism crisis. The study of relatives permitted us to analyse 26 additional samples (17 women and 9 men), detecting in 8 of them (4 women and 4 men) the enzymopathy .
The prevalence of G6PD deficiency in Menorca is one of the highest in Spain. Most of the carriers are asymptomatic, the most important clinical manifestations being the neonatal jaundice and favism. The screening test used is efficient for unmistakable hemizygotes detection.
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是一种红细胞酶病，在某些地中海国家非常常见。在梅诺卡岛（巴利阿里群岛），蚕豆病的发病率相对较高，这促使我们利用每年开展的“杂合子β地中海贫血检测运动以预防纯合子β地中海贫血”来研究这种变异的患病率。
我们连续三个学年共研究了1139名13至14岁的男学生。我们使用亚甲蓝作为筛查试验，并通过对溶血产物进行酶定量来确诊G6PD缺乏症。我们还分析了临床表现并研究了亲属。
我们确诊了11例G6PD缺乏症（患病率为9.7/1000），所有患者均为本岛居民。临床表现为：6例（54.5%）未发现临床表现，5例（45.4%）出现新生儿黄疸，2例（18.2%）发生过蚕豆病危象。对亲属的研究使我们能够分析另外26个样本（17名女性和9名男性），其中8例（4名女性和4名男性）检测出酶病。
梅诺卡岛G6PD缺乏症的患病率是西班牙最高的之一。大多数携带者无症状，最重要的临床表现是新生儿黄疸和蚕豆病。所使用的筛查试验对于准确检测半合子是有效的。
