Lobo Clarisse Lopes de Castro, Bueno Leíse Marcelo, Moura Patricia, Ogeda Leila Loureiro, Castilho Shirley, de Carvalho Silvia Maia Farias
Instituto Estadual de Hematologia Arthur de Siqueira Cavalcanti (HEMORIO), Serviço de Hematologia Clínica, Rio de Janeiro, Brasil.
Rev Panam Salud Publica. 2003 Feb-Mar;13(2-3):154-9. doi: 10.1590/s1020-49892003000200018.
To describe the main results obtained in the first 15 months of neonatal screening for sickle cell disease in the state of Rio de Janeiro, Brazil, from August 2000 to November 2001.
Starting in August 2000, blood samples began to be collected for sickle cell disease screening from all newborns receiving care in primary health care clinics in the state of Rio de Janeiro. The samples were submitted to high-resolution liquid chromatography. If the resulting chromatogram was compatible with sickle cell disease, the child and the parents were referred for diagnostic confirmation and treatment.
Between August 2000 and November 2001, 99 260 newborns were screened. There was one case of homozygous Hb C. On average, one of every 27 newborns who were screened presented sickle cell trait (Hb AS). Sickle cell disease was observed in 83 cases, or one new case in each 1 196 births. The 83 consisted of: 62 Hb S, 18 Hb SC, and 3 Hb SD. One child did not appear for diagnostic confirmation. The 82 children who were followed up by the program presented 15 intercurrent illnesses (upper respiratory infections, fever, splenic sequestration crises, hand-foot syndrome, and vascular occlusion), resulting in seven hospital admissions. Blood transfusions were necessary with 15 children, but none developed alloimmunization. All the other babies were doing well with the use of prophylactic penicillin.
Our data show the importance of early diagnosis for sickle cell disease, so as to prevent the frequent infectious complications faced by these patients.
描述2000年8月至2001年11月在巴西里约热内卢州对镰状细胞病进行新生儿筛查的前15个月所取得的主要成果。
从2000年8月开始，对在里约热内卢州初级卫生保健诊所接受护理的所有新生儿采集血样进行镰状细胞病筛查。样本被送去进行高分辨率液相色谱分析。如果所得色谱图与镰状细胞病相符，患儿及其父母会被转诊以进行诊断确认和治疗。
在2000年8月至2001年11月期间，共筛查了99260名新生儿。有1例纯合子Hb C。平均而言，每27名接受筛查的新生儿中就有1名表现为镰状细胞性状（Hb AS）。共观察到83例镰状细胞病，即每1196例出生中有1例新发病例。这83例包括：62例Hb S、18例Hb SC和3例Hb SD。有1名儿童未前来进行诊断确认。该项目随访的82名儿童出现了15种并发疾病（上呼吸道感染、发热、脾隔离危象、手足综合征和血管闭塞），导致7次住院。15名儿童需要输血，但均未发生同种免疫。所有其他婴儿在使用预防性青霉素后情况良好。
我们的数据表明了早期诊断镰状细胞病的重要性，以便预防这些患者经常面临的感染性并发症。
