| Autor: |
A, Cladera Serra, E, Oliva Berini, M, Torrent Quetglas, E, Bartolozzi Castilla |
| Rok vydání: |
1998 |
| Předmět: |
|
| Zdroj: |
Sangre. 42(5) |
| ISSN: |
0036-4355 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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