RESUMO
BACKGROUND: Oxygen transport is altered in hemoglobinopathies. AIM: To study the distribution of hemoglobinopathies in Andean subjects without African ancestry. MATERIAL AND METHODS: We analyzed blood samples of 1,407 subjects aged 18 to 59 years (58% females), living in the central Andean region of Colombia, referred to discard hemoglobinopathies. The frequency and type of hemoglobinopathy was established by capillary and agarose gel electrophoresis. RESULTS: The frequency of hemoglobinopathies was 34.5% and higher among females. The structural variants found were: AS-heterozygous hemoglobin (8.1%), homozygous SS (3.7%), heterozygous SC (2.2%), AC heterozygotes (0.5%) and heterozygous AE (0.3%). Quantitative variants found were Hb A-Beta thalassemia (13.91%) and Hb H (0.06%), Beta-thalassemia heterozygotes C (0.88%), S-Beta thalassemia heterozygotes (6.07%) and compound heterozygous SC/Beta thalassemia (0.25%), with a persistence of fetal hemoglobin 0. Composite thalassemia was also found in 31%. All techniques showed good correlation and capillary electrophoresis demonstrated a greater detection of hemoglobin variants. CONCLUSIONS: The frequency of hemoglobin variants in the analyzed population was high, which is an important public health indicator. The most common hemoglobin variant was HbA/Increased structural Hb A2 and the mos frequent structural hemoglobinopathy was sickle cell trait. Capillary electrophoresis can discern any Hb variants present in the population.
Assuntos
Hemoglobinopatias/epidemiologia , Hemoglobinas/análise , Adulto , Colômbia/epidemiologia , Eletroforese em Gel de Ágar , Eletroforese Capilar , Feminino , Hemoglobinopatias/classificação , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/etnologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
Background: Oxygen transport is altered in hemoglobinopathies. Aim: To study the distribution of hemoglobinopathies in Andean subjects without African ancestry. Material and Methods: We analyzed blood samples of 1,407 subjects aged 18 to 59 years (58% females), living in the central Andean region of Colombia, referred to discard hemoglobinopathies. The frequency and type of hemoglobinopathy was established by capillary and agarose gel electrophoresis. Results: The frequency of hemoglobinopathies was 34.5% and higher among females. The structural variants found were: AS-heterozygous hemoglobin (8.1%), homozygous SS (3.7%), heterozygous SC (2.2%), AC heterozygotes (0.5%) and heterozygous AE (0.3%). Quantitative variants found were Hb A-Beta thalassemia (13.91%) and Hb H (0.06%), Beta-thalassemia heterozygotes C (0.88%), S-Beta thalassemia heterozygotes (6.07%) and compound heterozygous SC/Beta thalassemia (0.25%), with a persistence of fetal hemoglobin 0. Composite thalassemia was also found in 31%. All techniques showed good correlation and capillary electrophoresis demonstrated a greater detection of hemoglobin variants. Conclusions: The frequency of hemoglobin variants in the analyzed population was high, which is an important public health indicator. The most common hemoglobin variant was HbA/Increased structural Hb A2 and the mos frequent structural hemoglobinopathy was sickle cell trait. Capillary electrophoresis can discern any Hb variants present in the population.
Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Hemoglobinopatias/epidemiologia , Hemoglobinas/análise , Colômbia/epidemiologia , Eletroforese em Gel de Ágar , Eletroforese Capilar , Hemoglobinopatias/classificação , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/etnologia , Estudos RetrospectivosRESUMO
INTRODUCTION: Hemoglobin disorders are classified into three main groups: structural variants, thalassemias (thal) and hereditary persistence of fetal hemoglobin (HPFH). OBJECTIVE. This study describes the types and frequencies of hemoglobinopathies from four states of the Pacific coast of Mexico (Jalisco, Colima, Nayarit and Michoacan). MATERIAL AND METHODS. We studied 1513 Mexican individuals by hematological and biochemical analysis following the conventional methods, DNA analysis was carried out in abnormal samples. RESULTS. The frequency of hemoglobinopathies was 1.258%. Structural variants were the most common type (0.726%), with seven carriers (0.462%) and one homozygote (0.066%) for Hb S, and three heterozygotes of the following hemoglobins: C (beta6 Glu-->Lys), Fannin-Lubbock I (beta119 Gly-->Asp) and Colima (beta49 Ser-->Cys), with a frequency of 0.066% each. We observed a frequency of 0.466% for the thalassemia group, with one homozygote for the alpha3.7 (-thal) allele (0.066%), and 6 heterozygotes for beta-thal (0.40%), with the allele IVS1:110 G-->A in three subjects, and the alleles Cd 39, IVS1:5 G-->A and -28 A-->C in the three other. HPFH was detected in one subject (0.066%). Jalisco and Colima had the highest frequencies of hemoglobinopathies, 3.015% and 1.331% respectively, and the latter showed the most diversity of hemoglobin disorders. CONCLUSIONS: The observed heterogeneity of types and frequencies of hemoglobinopathies in the regions studied illustrate the importance of further investigation of these abnormalities in Mexico.
Assuntos
Hemoglobinopatias/classificação , Hemoglobinopatias/epidemiologia , Humanos , MéxicoRESUMO
Se llevó a cabo un estudio de hemoglobinopatías en una muestra de la población infantil de la ciudad de Cartagena, analizandosa un total de 230 pacientes, 130 masculinos (56,5 por ciento) y 100 femeninos (43,4 por ciento); se encontraron 23 muestras con alteraciones en las hemoglobinas, lo que representa una frecuencia del 10 por ciento
Assuntos
Humanos , Criança , Hemoglobinopatias/classificação , Hemoglobinopatias/epidemiologiaRESUMO
Se describen los diferentes hallazgos clínicos en cincuenta y dos pacientes con Anemia Drepanocítica, observandose su mayor frecuencia en la segunda y tercera década de la vida, sin predominio del sexo, siendo la HbSS la más frecuente del grupo. Se han referido a la Anemia Drepanocítica como enfermedad Drepanocítica, analizándose sus diversas manifestaciones Cardio-Pulmonares, Gastro-Intestinales, Osteoarticulares, Genito-Urinarias, oculares y en el sistema nervioso. Así como las crisis, sus tipos, frecuencia, características clínicas y evolutivas, las complicaciones descubiertas, las infecciones y causas de muerte. Se considera un problema de Salud Pública en las investigaciones realizadas en Venezuela e internacionalmente