Ropero P, Sánchez J, González F A, Armada B, Benito A, Caldeira A, Martín G, Villegas A
Hospital Infanta Elena de Huelva, Portugal.
Sangre (Barc). 1994 Oct;39(5):365-8.
To check out the incidence of beta-thalassaemia in different regions of Spain and to demonstrate its heterogeneity.
The study was performed on 60 peripheral blood samples from patients diagnosed of beta-thalassaemia by conventional methods, namely, microcytosis, HbA2 over 3.5%, increased HbF. DNA was isolated with phenol-chloroform and amplified by ARMS technique, and in one case its sequence was established according to Sanger's method.
The mutations found in the 67 alleles studied showed similar incidence, although NT1 (IVS 1) mutation was increased and NT110 (IVS 1) mutation was decreased when compared with the findings in other Mediterranean populations.
Due to historical reasons, the racial characteristics of Spanish people are the product of different ethnic groups, so hereditary disorders are here usually heterogeneous. This study appears to confirm such fact with respect to beta-thalassaemia.
调查西班牙不同地区β地中海贫血的发病率，并证明其异质性。
本研究对60份外周血样本进行，这些样本来自通过传统方法诊断为β地中海贫血的患者，传统方法即小红细胞症、HbA2超过3.5%、HbF升高。用酚-氯仿法分离DNA，并通过扩增阻滞突变系统（ARMS）技术进行扩增，在1例中根据桑格法确定其序列。
在所研究的67个等位基因中发现的突变显示出相似的发病率，尽管与其他地中海人群的研究结果相比，NT1（IVS 1）突变增加，NT110（IVS 1）突变减少。
由于历史原因，西班牙人的种族特征是不同族群的产物，因此遗传性疾病在此通常具有异质性。本研究似乎就β地中海贫血证实了这一事实。
