de Araújo Maria Cristina Pignataro Emerenciano, Serafim Edvis Santos Soares, de Castro Wivel Antonio Pereira, de Medeiros Tereza Maria Dantas
Departamento de Pediatria, Universidade Federal do Rio Grande do Norte, Natal, RN, Brasil.
Cad Saude Publica. 2004 Jan-Feb;20(1):123-8. doi: 10.1590/s0102-311x2004000100027. Epub 2004 Mar 8.
Hemoglobinopathies are among the most prevalent hereditary diseases in humans. Studies in different areas of Brazil have identified the prevalence of S and C abnormal hemoglobins. The study analyzed 1,940 cord blood samples of newborns from maternity hospitals in Natal, Rio Grande do Norte State, to investigate the prevalence of abnormal hemoglobins. All samples were submitted to cellulose acetate electrophoresis using a Tris-EDTA-borate buffer at pH 8.5. Electrophoresis in agar gel pH 6.2 was performed on samples presenting abnormal hemoglobin. Some 37 (1.91%) of the newborns presented hemoglobinopathies, as follows: 29 (1.50%) sickle cell trait (Hb FAS), 6 (0.31%) heterozygous Hb C (Hb FAC), one (0.05%) homozygous Hb S (Hb FS), and one (0.05%) Hb Barts suggestive of alpha thalassemia. The results show the need to implement screening for hemoglobinopathies in the neonatal population.
血红蛋白病是人类中最常见的遗传性疾病之一。巴西不同地区的研究已经确定了S型和C型异常血红蛋白的患病率。该研究分析了北里奥格兰德州纳塔尔市妇产医院1940份新生儿脐带血样本,以调查异常血红蛋白的患病率。所有样本均使用pH 8.5的Tris-EDTA-硼酸盐缓冲液进行醋酸纤维素电泳。对呈现异常血红蛋白的样本进行pH 6.2的琼脂凝胶电泳。约37名(1.91%)新生儿患有血红蛋白病,具体情况如下:29名(1.50%)为镰状细胞性状(Hb FAS),6名(0.31%)为杂合子Hb C(Hb FAC),1名(0.05%)为纯合子Hb S(Hb FS),1名(0.05%)Hb Barts提示α地中海贫血。结果表明有必要在新生儿群体中开展血红蛋白病筛查。