[Clinical consequences of XXXX in the basque country, Spain. Impact of neonatal screening.]

@entity7723 @entity1 @entity417 @entity8453 @entity68
INTRODUCTION: @entity7723 is the most common @entity8453 with a variable clinical manifestation depending on the number of allele mutations (asymptomatic/mild @entity417 if 1-2 allele mutations, severe disease if 3-4 allele mutations). A study was conducted from May 2011 on @entity8453 found in the neonatal screening in the autonomous community of the Basque Country (CAPV). OBJECTIVES: To analyze the impact of @entity7723 in this area and the effectiveness of its neonatal screening. METHODS: A review was made of @entity1 with a positive gene study for @entity7723 over a 2-year period (2012-2013) and an analysis was made of the age at diagnosis, ethnic group, analytical result, and treatment. RESULTS: The genetic study was performed on 107 @entity1 , of which 61 had some mutation, with 62% having one allele mutations and 38% with two alleles. The mean age at diagnosis was 31 years, with 28% being younger than eighteen years old. Most of the @entity1 were European with a significant number of Africans (26%) and Arabs (13%). All @entity1 were asymptomatic, and 28% had mild @entity417 . Two @entity1 were diagnosed by neonatal screening. Most of them did not need any treatment or only required @entity68 therapy. CONCLUSIONS: The detection of one or two alpha gene mutations has no clinical impact, but allows genetic counseling. No @entity1 was found with 3-4 mutations or severe symptoms in our region. Contrarily to the diagnosis of other diseases, our results does not support that routine neonatal screening for @entity7723 has any clinical impact in our community.
