Alvear Ciro Cesar, Barboza Miriam, Viola Maricela, Moneriz Carlos, Araque Luz Marina
Facultad de Medicina, Universidad de Cartagena. E-mail:
Colomb Med (Cali). 2012 Sep 30;43(3):196-9. eCollection 2012 Jul.
The hemoglobinopathies are a heterogeneous group of congenital anemias from Africa, Asia and the Mediterranean. Due to the migration of this population have spread worldwide, especially in Latin America and the Caribbean region, which Cartagena de Indias is included, with a large proportion of people of African descent. The lack of routine programs that include an appropriate methodology for precise identification of those affected and carriers, impossible to know the real behavior of this disease in our country and an early and appropriate to the patients before the disease manifests itself and produce its serious consequences.
To estimate the incidence and describe the epidemiological profile of hemoglobinopathies in newborns Rafael Calvo Maternity Clinic of Cartagena, in the period from January to June 2010.
Prospective descriptive study of a population of 1,729 newborns. Samples were collected cord blood on filter paper. Isoelectric focusing electrophoresis (IEF )was used to separate the haemoglobins.
94.4% (1,633 samples) were normal (hemoglobin FA), 4.5% (78 samples) were heterozygous for haemoglobin S (HbFAS), 1% (17samples) were heterozygous for haemoglobin C (hemoglobin FAC) and 0.1% (1 sample) was double heterozygous SC (hemoglobin FSC).
Due to the high incidence of hemoglobinopathies found in this pilot study highlights the importance and necessity of establishing an obligatory neonatal screening in the city of Cartagena, in order to make a timely diagnosis and monitoring of affected and carrier.
血红蛋白病是一组源自非洲、亚洲和地中海地区的先天性贫血症,种类多样。由于这些人群的迁移,该病已传播至全球,尤其是拉丁美洲和加勒比地区,包括卡塔赫纳德印第亚斯,这里有很大比例的非洲裔人口。由于缺乏包含精确识别患者和携带者的适当方法的常规项目,我们无法了解该国这种疾病的真实情况,也无法在疾病显现并产生严重后果之前对患者进行早期且适当的干预。
估算2010年1月至6月期间卡塔赫纳德印第亚斯拉斐尔·卡尔沃妇产诊所新生儿血红蛋白病的发病率,并描述其流行病学特征。
对1729名新生儿进行前瞻性描述性研究。在滤纸上采集脐带血样本。采用等电聚焦电泳(IEF)分离血红蛋白。
94.4%(1633份样本)正常(血红蛋白FA),4.5%(78份样本)为血红蛋白S杂合子(HbFAS),1%(17份样本)为血红蛋白C杂合子(血红蛋白FAC),0.1%(1份样本)为双重杂合子SC(血红蛋白FSC)。
由于在这项初步研究中发现血红蛋白病的发病率较高,凸显了在卡塔赫纳市建立强制性新生儿筛查的重要性和必要性,以便及时诊断并监测患者和携带者。