INTRODUCTION: 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. OBJECTIVE: 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. METHODS: 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. RESULTS: 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). CONCLUSION: 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.
INTRODUCTION: 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. OBJECTIVE: 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. METHODS: 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. RESULTS: 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). CONCLUSION: 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.
Authors: Edgar Ruiz Semba; Jorge Garavito Rentería; Jorge Jiménez Bustamante; Ronal Arteaga Caro; José Luis García Del Aguila; Vannya Chávez Gil Journal: Rev Gastroenterol Peru Date: 2006 Oct-Dec
Authors: Olga Y Echeverri; Johana M Guevara; Ángela J Espejo-Mojica; Andrea Ardila; Ninna Pulido; Magda Reyes; Alexander Rodriguez-Lopez; Carlos J Alméciga-Díaz; Luis A Barrera Journal: Orphanet J Rare Dis Date: 2018-08-16 Impact factor: 4.123