Bravo M, Salazar R, Arends A, Alvarez M, Velázquez D, Guevara J M, Castillo O
Laboratorio de Hemoglobinas Anormales, Dr. Tulio Arends Hospital Universitario de Caracas, Venezuela.
Invest Clin. 1999 Sep;40(3):203-13.
beta Thalassemia (Thal) mutations were studied in DNA from 80/159 patients with hemolytic anemia and high levels of Hb A2 by the amplification refractory mutation system technique (ARMS-PCR). This method detects point mutations and insertions or deletions of just a few nucleotides in the beta globin gene by the polymerase chain reaction of allele-specific priming. In 43/80 patients with different clinical presentations of beta Thalassemia and 37/80 compound heterozygous for hemoglobinopathies and beta Thalassemia the most frequent mutation found was the -29 (of African origin), followed by the CD39 (of Mediterranean origin) and in a lower frequency also was found the -88, the IVSI-6 and the IVSI-110. We conclude that this technique is an useful approach in determining the beta thalassemia mutations in population surveys, because it allows to make a differential diagnosis between beta Thalassemia minor and individuals with high levels of Hb A2. It helps to clarify the diagnosis of patients with structural hemoglobinopathies that also presents high levels of Hb A2.
通过扩增阻滞突变系统技术(ARMS-PCR)对159例溶血性贫血且Hb A2水平较高的患者中的80例患者的DNA进行了β地中海贫血(β地贫)突变研究。该方法通过等位基因特异性引物的聚合酶链反应检测β珠蛋白基因中的点突变以及仅几个核苷酸的插入或缺失。在80例有不同临床表现的β地贫患者中的43例以及血红蛋白病与β地贫的37例复合杂合子患者中,发现最常见的突变是 -29(源自非洲)突变,其次是CD39(源自地中海地区)突变,且 -88、IVS1-6和IVS1-110突变出现频率较低。我们得出结论,该技术在人群调查中确定β地贫突变方面是一种有用的方法,因为它能够鉴别轻型β地贫和Hb A2水平较高的个体。它有助于明确同样呈现高Hb A2水平的结构性血红蛋白病患者的诊断。