RESUMO
BACKGROUND: Hemoglobinopathies are among the most studied and frequent pathologies. These genetic disorders are considered a very important health care threat in many tropical countries. Ecuador is a tropical Latin-American country with an important presence of afro-descendants (7.2%). Afro-descendants are among the ethnic groups with higher frequency of hemoglobinopathies reported. Ambuqui is a region within the Imbabura province with an important presence of afro-descendants (>50%). The present study analyzed the frequency of the most common hemoglobin variants in an asymptomatic afro-descendent population using capillary electrophoresis. FINDINGS: From 114 individuals, 25 (22%) reported a hemoglobin variant. All individuals that presented hemoglobin variants were heterozygotes (asymptomatic). Hemoglobin S (sickle cell trait) was the most frequent variant found (14%), followed by hemoglobin E (4.4%), Fetal (2.6%) and C (1%). CONCLUSION: Prevalence of hemoglobin S was consistent with populations from other countries, but it was lower than other Ecuadorian afro-descendent populations. Frequency of hemoglobin C was lower than other afro-descendent populations. This data suggests the possibility of gene flow from Native American individuals to the Ambuqui population there by lowering the frequency of their hemoglobin variants compared with other afro-descendant populations. Evaluating the frequency of hemoglobinopathies in Ecuadorian populations is essential. Despite the high frequency of these disorders, very few health care facilities implement hemoglobinopathies tests as a routine practice.
Assuntos
População Negra/genética , Hemoglobinopatias/etnologia , Hemoglobinopatias/genética , Hemoglobinas/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Equador , Eletroforese Capilar , Feminino , Hemoglobina Fetal/genética , Predisposição Genética para Doença , Genética Populacional , Hemoglobina C/genética , Hemoglobina E/genética , Hemoglobina Falciforme/genética , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Traço Falciforme/genética , Adulto JovemRESUMO
Chronic vascular inflammation and endothelial activation may initiate vaso-occlusion in sickle cell disease (SCD). TNFSF14 (CD258; LIGHT), a recently-identified pro-thrombotic and pro-inflammatory tumour necrosis factor (TNF)-superfamily cytokine, has a potent activating effect on endothelial cells. We evaluated whether TNFSF14 production is altered in SCD and whether platelets contribute to this production. TNFSF14 was measured in platelet-free plasma from healthy-control individuals (CON), steady-state sickle cell anaemia (SCA), SCA on hydroxycarbamide therapy (SCAHC) and haemoglobin SC (HbSC) patients. Mean plasma TNFSF14 was significantly increased in SCA, SCAHC and HbSC, compared to CON individuals. In SCA/SCAHC patients, plasma TNFSF14, showed no correlation with haematological variables, but was significantly correlated with serum lactate dehydrogenase and inflammatory markers (CD40LG , IL8 and ICAM1). Platelet-membrane TNFSF14 expression was significantly augmented on SCA platelets, and correlated with platelet activation; furthermore, measurement of platelet TNFSF14 release indicated that platelets may be a major source of circulating TNFSF14 in SCA. Interestingly, high plasma TNFSF14 was significantly associated with elevated tricuspid regurgitant velocity (≥2·5 m/s) in a population of SCA/SCAHC patients. The pro-inflammatory and atherogenic cytokine, TNFSF14, could contribute to endothelial activation and inflammation in SCA; future investigations may confirm whether this protein contributes to major clinical complications of the disease, such as pulmonary hypertension, and represents a potential therapeutic target.
Assuntos
Anemia Falciforme/sangue , Plaquetas/metabolismo , Membro 14 da Superfamília de Ligantes de Fatores de Necrose Tumoral/sangue , Adolescente , Adulto , Anemia Falciforme/complicações , Anemia Falciforme/tratamento farmacológico , Anemia Falciforme/genética , Anemia Falciforme/patologia , Biomarcadores , Endotélio Vascular/patologia , Feminino , Genótipo , Hemoglobina C/genética , Doença da Hemoglobina C/sangue , Doença da Hemoglobina C/genética , Humanos , Hidroxiureia/uso terapêutico , Mediadores da Inflamação/sangue , Masculino , Pessoa de Meia-Idade , Ativação Plaquetária , Membro 14 de Receptores do Fator de Necrose Tumoral/sangue , Traço Falciforme/sangue , Traço Falciforme/genética , Trombofilia/etiologia , Trombofilia/metabolismo , Membro 14 da Superfamília de Ligantes de Fatores de Necrose Tumoral/genética , Membro 14 da Superfamília de Ligantes de Fatores de Necrose Tumoral/fisiologia , Adulto JovemAssuntos
Globinas/genética , Mutação Puntual , Talassemia beta/genética , Brasil , Criança , Códon , Feminino , Hemoglobina C/genética , Heterozigoto , Humanos , Talassemia beta/sangueRESUMO
Through migration and birth sickle cell disease has become an important health problem in the Netherlands: it is estimated that each year between 25 and 40 children are born with a form of sickle cell disease. A programme designed towards parental education, prevention and early intervention for complications of sickle cell disease (notably penicillin prophylaxis to prevent pneumococcal septicaemia and meningitis) may lead to reduction in morbidity. Early diagnosis is indicated since children with sickle cell disease will benefit most from such a programme in the first few years of life.
Assuntos
Anemia Falciforme/epidemiologia , Emigração e Imigração , Anemia Falciforme/etnologia , Anemia Falciforme/genética , Anemia Falciforme/prevenção & controle , Pré-Escolar , Hemoglobina C/genética , Hemoglobina Falciforme/genética , Humanos , Lactente , Países Baixos , Pais/educação , Diagnóstico Pré-Natal , Suriname/etnologiaRESUMO
Se estudiaron algunas características cuantitativas sanguíneas en un grupo de heterocigotos AS y AC. Se encontró que cuando la concentración de HbS es menor que el 30%hay cambios cuantitativos en las constantes corpusculares, hemoglobina A2 y hemoglobina fetal con relación al grupo control, lo cual puede estar asociado al número de genes alfa ausentes en el individuo
Assuntos
Hemoglobina Fetal/análise , Hemoglobina A2/genética , Hemoglobina C/genética , Hemoglobina Falciforme/genéticaRESUMO
The prevalences of abnormal hemoglobins and thalassemias depend largely upon the hereditary racial composition and geographic origins of the affected populations. In Central América and Panamá, where the racial and immigration patterns are highly varied, prevalences vary greatly from one country to another and even from one population group to another within a given country. Since literature on this problem is scanty, the review presented draws heavily upon fairly extensive information obtained from Costa Rican studies. Nevertheless, it has been supplemented with whatever data it has been possible to find on Panamá and other Central Américan countries. The sickle cell gene for hemoglobin S (Hb S) has not been found among the racially indigenous groups studied in Costa Rica and Panamá. However noteworthy prevalences of Hb S have been reported among Blacks and other population groups in Costa Rica, El Salvador, Guatemala, Honduras, and Panamá, with the heterozygous Hb S marker reaching a level of 30 per cent of one survey population in the latter country. In addition, the presence of the hemoglobin C marker has been reported in Costa Rica, Honduras, and Panamá; and the sickling syndromes- including heterozygous Hb SC, Hb S combined with Hb Korle-Bu, homozygous Hb S with alpha thalassemia, heterozygous Hb S with alpha (B+) thalassemia and Hb S with beta thalassemia (both B+ and Bo)- have been