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1.
Hemoglobin ; 43(4-5): 249-253, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31581858

RESUMO

This study assessed thalassemia and hemoglobinopathies in a group of the Tay ethnic minority. Participants included 289 women of reproductive-age who enrolled in a pilot screening program for thalassemia conducted at six communities of Thai Nguyen Province, northern Vietnam. Standard procedures including complete blood count (CBC), hemoglobin (Hb) and DNA analyses were performed for all samples. The prevalence of thalassemia in 289 Tay women was 15.6% (gene frequency 0.078) for α0-thalassemia (α0-thal), 10.0% (gene frequency 0.050) for α+-thal, 7.3% (gene frequency 0.036) for ß-thalassemia (ß-thal), 2.4% (gene frequency 0.012) for Hb Constant Spring [Hb CS; α142, Term→Gln, TAA>CAA (α2), HBA2: c.427T>C] and 1.7% (gene frequency 0.009) for Hb E [ß26(B8)Glu→Lys, GAG>AAG; HBB: c.79G>A]. Further analysis of ß-globin gene abnormalities identified four mutations including codons 41/42 (-TCTT) (HBB: c.126_129delCTTT), codon 17 (A>T) (HBB: c.52A>T), codons 71/72 (+A) (HBB: c.216_217insA), and -28 (A>G) (HBB: c.78A>G). The results hint at the remarkably high frequencies of severe forms of thalassemia that indicate a serious public health problem requiring further exploration, and most probably, also intervention within the country.


Assuntos
Hemoglobinopatias/etnologia , Grupos Minoritários , Talassemia/etnologia , Grupos Étnicos , Feminino , Frequência do Gene , Hemoglobinopatias/genética , Hemoglobinas Anormais , Humanos , Programas de Rastreamento , Mutação , Prevalência , Talassemia/genética , Vietnã/epidemiologia , Vietnã/etnologia , Talassemia alfa/etnologia , Talassemia alfa/genética , Globinas beta/genética , Talassemia beta/etnologia , Talassemia beta/genética
2.
Ann Lab Med ; 39(2): 133-140, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30430775

RESUMO

BACKGROUND: Thalassemia is highly prevalent in Southeast Asia but is rare in Korea; however, Southeast Asian immigrant population is recently rising in Korea. We investigated the prevalence of thalassemia in Korea in the context of increasing immigration. METHODS: This prospective, observational, multicenter study was conducted between September 2015 and August 2017. A total of 669 subjects <30 years living in Korea were grouped into the multiethnic (N=314) and Korean (N=355) groups. Hb electrophoresis and complete blood count (CBC) were performed. If low mean corpuscular volume with high red blood cell distribution width coefficient of variation or a high fetal Hb (HbF) or Hb alpha 2 (HbA2) level was observed, genetic testing of the α- and ß-globin genes was performed. In addition, the number of potential thalassemia carriers in Korea was estimated by multiplying the prevalence of thalassemia in a specific ethnicity by the number of immigrants of that ethnicity. RESULTS: Twenty-six multiethnic and 10 Korean subjects showed abnormal results for Hb electrophoresis and CBC. Eighteen multiethnic subjects and four Korean subjects were tested for α-globin and ß-globin gene mutations. Within the multiethnic group, five subjects (1.5%) were α-thalassemia carriers, and six (1.9%) were ß-thalassemia minor. The SEA deletion in HBA1 and HBA2, and c. 126_129delCTTT (p.Phe42Leufs*19) mutation of HBB were the dominant inherited mutations. CONCLUSIONS: The prevalence of thalassemia in young people in Korea is increasing due to the increasing number of Southeast Asian immigrants.


Assuntos
Emigração e Imigração , Talassemia/diagnóstico , Adolescente , Adulto , Contagem de Células Sanguíneas , Criança , Pré-Escolar , Eletroforese , Feminino , Hemoglobina Fetal/análise , Hemoglobina Fetal/genética , Deleção de Genes , Testes Genéticos , Hemoglobina A2/análise , Hemoglobina A2/genética , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Prospectivos , República da Coreia/epidemiologia , Talassemia/epidemiologia , Talassemia/etnologia , Adulto Jovem
4.
Am J Public Health ; 106(5): 851-3, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26999505

RESUMO

Sickle cell disease (SCD) is a significant problem in the Caribbean, where many individuals have African and Asian forebears. However, reliable prevalence data and specific health care programs for SCD are often missing in this region. Closer collaboration between Caribbean territories initiated in 2006 to set up strategies to promote better equity in the health care system for SCD patients led to the formation of CAREST: the Caribbean Network of Researchers on Sickle Cell Disease and Thalassemia. We present the effectiveness of collaborations established by CAREST to promote SCD newborn screening programs and early childhood care, to facilitate health worker training and approaches for prevention and treatment of SCD complications, and to carry out inter-Caribbean research studies.


Assuntos
Anemia Falciforme/etnologia , Promoção da Saúde/organização & administração , Triagem Neonatal , Pesquisa/organização & administração , Talassemia/etnologia , Região do Caribe/epidemiologia , Comportamento Cooperativo , Competência Cultural , Pessoal de Saúde/educação , Humanos , Recém-Nascido , Capacitação em Serviço , Idioma , Prevalência
5.
Hemoglobin ; 40(3): 179-86, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26950205

RESUMO

Glucose-6-phosphate dehydrogenase (G6PD) deficiency and thalassemia occur frequently in tropical and subtropical regions, while the prevalence of relationship between the two diseases in Xinjiang has not been reported. We aimed to determine the prevalence of these diseases and clarify the relationship between genotypes and phenotypes of the two diseases in the Uygur and Kazak ethnic groups in Xinjiang. We measured G6PD activity by G6PD:6PGD (glucose acid-6-phosphate dehydrogenase) ratio, identified the gene variants of G6PD and α- and ß-globin genes by polymerase chain reaction (PCR)-DNA sequencing and gap-PCR and compared these variants in different ethnic groups in Xinjiang with those adjacent to it. Of the 149 subjects with molecular analysis of G6PD deficiency conducted, a higher prevalence of the combined mutations c.1311C > T/IVSXI + 93T > C and IVSXI + 93T > C, both with normal enzymatic activities, were observed in the Uygur and Kazak subjects. A case of rare mutation HBB: c.135delC [codon 44 (-C) in the heterozygous state], a heterozygous case of HBB: c.68A > G [Hb G-Taipei or ß22(B4)Glu→Gly] and several common single nucleotide polymorphisms (SNPs) were found on the ß-globin gene. In conclusion, G6PD deficiency with pathogenic mutations and three common α-thalassemia (α-thal) [- -(SEA), -α(3.7) (rightward), -α(4.2) (leftward)] deletions and point mutations of the α-globin gene were not detected in the present study. The average incidence of ß-thalassemia (ß-thal) in Uygurs was 1.45% (2/138) in Xinjiang. The polymorphisms of G6PD and ß-globin genes might be useful genetic markers to trace the origin and migration of the Uygur and Kazak in Xinjiang.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/genética , Epidemiologia Molecular/métodos , Talassemia/genética , China/epidemiologia , China/etnologia , Frequência do Gene , Estudos de Associação Genética , Variação Genética/genética , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/etnologia , Humanos , Mutação , Polimorfismo de Nucleotídeo Único , Talassemia/epidemiologia , Talassemia/etnologia , alfa-Globinas/genética , Globinas beta/genética
6.
J Pediatr Hematol Oncol ; 37(8): 595-9, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26422283

RESUMO

BACKGROUND: Hemoglobinopathies are associated with significant morbidity and mortality. Accurate epidemiologic data reflecting the number of hemoglobinopathy patients are lacking in Canada. Immigration patterns are shifting such that regions where these diseases were rare are seeing a rapid population expansion, revealing a gap in the health care system and the need for a public health response. METHODS: To understand the epidemiology of pediatric hemoglobinopathy patients given the provincial population growth and immigration patterns, a retrospective chart review was conducted at the Stollery Children's Hospital from January 2004 to July 2014. RESULTS: A total of 88% of patients had sickle cell disease; 55% of patients were Canadian born and 63% of families originated from Africa. There was a 3.5-fold increase in patient numbers with acceleration in patient accrual over the study period and a delay in diagnosis in 70% of patients. There was a significant increase in the number of hospitalizations over the study period. Thirteen percent required at least 1 exchange transfusion, 16% received chronic transfusions, and 30% of patients developed at least 1 severe complication related to their diagnosis. CONCLUSIONS: It is imperative to demonstrate the growing hemoglobinopathy population and changing health care requirements to advocate for appropriate resources, educate health care providers, and increase awareness.


Assuntos
Anemia Falciforme/epidemiologia , Talassemia/epidemiologia , Síndrome Torácica Aguda/epidemiologia , Síndrome Torácica Aguda/etiologia , Adolescente , África/etnologia , Alberta/epidemiologia , Anemia Falciforme/complicações , Anemia Falciforme/etnologia , Anemia Falciforme/terapia , Ásia/etnologia , Transfusão de Sangue/estatística & dados numéricos , Região do Caribe/etnologia , Criança , Pré-Escolar , Emigrantes e Imigrantes/estatística & dados numéricos , Feminino , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/etnologia , Recursos em Saúde/provisão & distribução , Recursos em Saúde/tendências , Necessidades e Demandas de Serviços de Saúde , Hematologia/organização & administração , Hospitalização/estatística & dados numéricos , Hospitais Pediátricos/estatística & dados numéricos , Humanos , Lactente , Recém-Nascido , Sobrecarga de Ferro/epidemiologia , Sobrecarga de Ferro/etiologia , Masculino , Morbidade/tendências , Ambulatório Hospitalar/estatística & dados numéricos , Estudos Retrospectivos , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/etiologia , Talassemia/complicações , Talassemia/etnologia , Talassemia/terapia , Reação Transfusional
7.
Clin Lab ; 61(3-4): 405-14, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25975009

RESUMO

BACKGROUND: The data from apparently healthy individuals with thalassemia has been demonstrated to have an effect on the reference intervals for the erythrocyte indices in areas with a high incidence of thalassemia. METHODS: Six clinical centers screened apparently healthy individuals using a questionnaire and a physical examination. Then, the qualified reference individuals were selected by hematological indices and a genotypic thalassemia diagnosis. Statistical comparisons were conducted for the erythrocyte reference intervals in the Chinese population with and without thalassemia. The constituent ratios and the mean (SD) of erythrocyte indices according to the thalassemia genotype were calculated. The relationship between the MCV values and the thalassemia genotype was also estimated. RESULTS: 4,636 reference individuals were included using hematological indices and genotypic thalassemia screening. The results of the erythrocyte reference intervals for individuals in Guangzhou with thalassemia demonstrated that the RBC, MCV, and MCH values significantly differed by gender compared with other regions (p < 0.01). In contrast, for individuals without thalassemia, the results tended to be similar and clinically acceptable. In addition, the results of the erythrocyte indices revealed significant differences among α-thalassemia patients, ß-thalassemia patients, and the control group. CONCLUSIONS: Apparently healthy individuals with thalassemia in the high prevalence zone of thalassemia could not be excluded by the questionnaire, physical examination or laboratory indices (Fe < 6 µmol/L, Hb < 90 g/L). The screening of genotypic thalassemia based on the MCV or MCH values to exclude unqualified individuals is the most effective way to obtain accurate and reliable reference intervals for the erythrocyte indices.


Assuntos
Índices de Eritrócitos , Eritrócitos/citologia , Talassemia/sangue , Talassemia/etnologia , Adolescente , Adulto , Idoso , China , Técnicas de Laboratório Clínico/normas , Feminino , Genótipo , Geografia , Voluntários Saudáveis , Hematologia , Humanos , Masculino , Pessoa de Meia-Idade , Valores de Referência , Análise de Sequência de DNA , Inquéritos e Questionários , Adulto Jovem
8.
J Med Screen ; 22(1): 1-7, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25341880

RESUMO

OBJECTIVES: To evaluate the feasibility of a newborn screening and follow-up programme for sickle cell disease (SCD) among tribal populations of south Gujarat, India. METHODS: A total of 5467 newborn babies were screened over 2 years using High-performance liquid chromatography, with diagnosis by molecular analysis. The SCD babies were followed-up clinically and haematologically regularly for 1.5 to 5 years to describe the course of the disease. RESULTS: Thirty-three babies (0.60%) were sickle homozygous, 13 (0.23%) were-sickle-ß-thalassaemia, 687 (12.5%) were sickle heterozygous, and 4736 were unaffected. The parents of SCD babies were educated and counselled for home care. There were 32 babies (69.5%) who could be clinically and haematologically followed-up; 7 babies (21.8%) presented with severe clinical complications, whereas 18 (56.2%) babies were asymptomatic till the last follow-up. The variation in clinical presentation was seen in spite of the presence of ameliorating factors, such as high fetal haemoglobin, Xmn-I polymorphism, and α-thalassaemia. CONCLUSION: In addition to demonstrating the possibility of establishing a newborn screening programme for sickle cell disorders among tribal populations, this study has shown that the disease is not always mild among tribal groups in India, as previously believed. There is a need, therefore, for increasing awareness among these tribal groups about the disease, and for regular monitoring of affected babies to reduce morbidity and mortality and to understand the natural course of the disease.


Assuntos
Anemia Falciforme/etnologia , Triagem Neonatal , Talassemia/etnologia , Cromatografia Líquida de Alta Pressão , Seguimentos , Hepatomegalia/etnologia , Humanos , Índia/epidemiologia , Lactente , Recém-Nascido , Prevalência , Traço Falciforme/etnologia , Esplenomegalia/etnologia
9.
Dtsch Med Wochenschr ; 139(9): 434-40, 2014 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-24557998

RESUMO

Among the German population with migration background there are probably 150 000-200 000 carriers of thalassemia (α und ß) and sickle cell disease, respectively, who have no or little symptoms. Compared to neighboring countries the number of sickle cell (1000-1500) and thalassemia patients (500-600) in Germany is rather low. This may explain the fact that hemoglobin diseases are not yet considered a public health problem in Germany. With optimal care 85-90 % of children with sickle cell disease and 100 % of children with thalassemia reach adulthood. In order to increase awareness for patients with hemoglobin diseases we discuss the most pertinent disease manifestations of adult patients and point out possibilities to obtain information. Specialists in regional centers should be addressed for acute management problems. Up to now it is difficult for many adult sickle cell and thalassemia patients to find a physician well enough informed and experienced to take over the care of their complex disease. Many adult patients are still taken care of by pediatricians. Urgently needed are reference centers with experience in management of hemoglobin diseases who are qualified for training hematologists and who can assure the transition of these patients from pediatrics to adult medical care.


Assuntos
Anemia Falciforme/sangue , Anemia Falciforme/etnologia , Emigrantes e Imigrantes , Talassemia/sangue , Talassemia/etnologia , Adulto , Algoritmos , Anemia Falciforme/diagnóstico , Anemia Falciforme/terapia , Criança , Estudos Transversais , Diagnóstico Diferencial , Índices de Eritrócitos , Feminino , Alemanha , Humanos , Masculino , Fatores de Risco , Talassemia/diagnóstico , Talassemia/terapia
10.
Nucleic Acids Res ; 42(Database issue): D1063-9, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24137000

RESUMO

HbVar (http://globin.bx.psu.edu/hbvar) is one of the oldest and most appreciated locus-specific databases launched in 2001 by a multi-center academic effort to provide timely information on the genomic alterations leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies. Database records include extensive phenotypic descriptions, biochemical and hematological effects, associated pathology and ethnic occurrence, accompanied by mutation frequencies and references. Here, we report updates to >600 HbVar entries, inclusion of population-specific data for 28 populations and 27 ethnic groups for α-, and ß-thalassemias and additional querying options in the HbVar query page. HbVar content was also inter-connected with two other established genetic databases, namely FINDbase (http://www.findbase.org) and Leiden Open-Access Variation database (http://www.lovd.nl), which allows comparative data querying and analysis. HbVar data content has contributed to the realization of two collaborative projects to identify genomic variants that lie on different globin paralogs. Most importantly, HbVar data content has contributed to demonstrate the microattribution concept in practice. These updates significantly enriched the database content and querying potential, enhanced the database profile and data quality and broadened the inter-relation of HbVar with other databases, which should increase the already high impact of this resource to the globin and genetic database community.


Assuntos
Bases de Dados de Ácidos Nucleicos , Variação Genética , Hemoglobinas/genética , Mutação , Talassemia/genética , Genótipo , Humanos , Internet , Fenótipo , Talassemia/etnologia
11.
Hemoglobin ; 37(5): 454-66, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23806067

RESUMO

In order to determine the prevalence and molecular characterization of hemoglobinopathies in the Wuxi region of Jiangsu Province in the People's Republic of China (PRC), a total of 10,297 healthy people selected from a regional hospital were screened. Hemoglobin (Hb) electrophoresis, complete blood cell (CBC) count, polymerase chain reaction (PCR), DNA sequencing, reverse dot-blot and multiplex ligation-dependent probe amplification (MLPA) were used to detect Hb variants, thalassemias and hereditary persistence of fetal Hb (HPFH). Two thousand and twenty-one adult subjects were screened for thalassemia, five cases were identified as α-thalassemia (α-thal) carriers including three cases of the -α(3.7) (rightward) deletion, one case of the - -(SEA) deletion and one case of ß-thal [IVS-II-654 (C>T), (HBB: c.316-197C>T)]. The incidence of Hb variants, thalassemia and HPFH/δß-thal were 0.136% (14/10,297), 0.25% (5/2021) and 0.0001% (1/10,297), respectively. Eight genotypes of Hb variants were found, including Hb E [ß26(B8)Glu→Lys, GAG>AAG; HBB: c.79G>A], Hb J-Bangkok [ß56(D7)Gly→Asp (GGC>GAC); HBB; c.170G>A], Hb G-Coushatta [ß22(4)Glu→Ala (GAA>GCA); HBB: c.68A>C], Hb Queens [α34(B15)Leu→Arg (CTG>CGG) (α2 or α1); HBA2: c.104T>G (or HBA1)], Hb I [α16(A14)Lys→Glu, AAG>GAG (α1); HBA1: c.49A>G], Hb Beijing [α16(A14)Lys→Asn (AAG>AAC or AAT) (α2 or α1); HBA2: c.51G>C (or HBA1) or 51G>T (or HBA1)], Hb Ube-2 [α68(E17)Asn→Asp (AAC>GAC) (α2 or α1); HBA2: c.205A>G (or HBA1)] and Hb G-Taipei [ß22(B4)Glu→Gly (GAA>GGA); HBB: c.68A>G]. A Sicilian δß(0)-thal, identified for the first time in Asia, was also found in this survey.


Assuntos
Inquéritos Epidemiológicos/métodos , Hemoglobinopatias/genética , Hemoglobinas/genética , Epidemiologia Molecular/métodos , Mutação , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Contagem de Células Sanguíneas , China/epidemiologia , Análise Mutacional de DNA , Feminino , Geografia , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/etnologia , Hemoglobinas Anormais/genética , Humanos , Masculino , Reação em Cadeia da Polimerase , Talassemia/etnologia , Talassemia/genética
12.
Hemoglobin ; 37(5): 501-6, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23806141

RESUMO

We investigated the Krüppel-like factor 1 (KLF1) gene mutations in Chinese adults with increased Hb F levels (>1.5%) referred to our laboratory for thalassemia screening. Functionally effective KLF1 mutations were identified in five out of 140 samples with an elevated Hb F (1.9-11.4%). Only two different KLF1 mutations were detected. Functional KLF1 mutations were not identified in the matched cohort of 110 samples with normal Hb F values (<1.0%). The KLF1 mutations could be one of the causes of hereditary persistence of fetal hemoglobin (HPFH) in regions where thalassemias are common.


Assuntos
Hemoglobina Fetal/metabolismo , Fatores de Transcrição Kruppel-Like/genética , Mutação , Talassemia/genética , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Sequência de Bases , China , Análise Mutacional de DNA , Testes Genéticos , Genótipo , Humanos , Talassemia/diagnóstico , Talassemia/etnologia
13.
J Environ Public Health ; 2013: 680631, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23606864

RESUMO

This study examined the prevalence of high blood pressure, heart disease, and medical diagnoses in relation to blood disorders, among 6,329 adolescent students (age 15 to 18 years) who reside in the United Arab Emirates (UAE). Findings indicated that the overall prevalence of high blood pressure and heart disease was 1.8% and 1.3%, respectively. Overall, the prevalence for thalassemia, sickle-cell anemia, and iron-deficiency anemia was 0.9%, 1.6%, and 5%, respectively. Bivariate analysis revealed statistically significant differences in the prevalence of high blood pressure among the local and expatriate adolescent population in the Emirate of Sharjah. Similarly, statistically significant differences in the prevalence of iron-deficiency anemia were observed among the local and expatriate population in Abu Dhabi city, the western region of Abu Dhabi, and Al-Ain. Multivariate analysis revealed the following significant predictors of high blood pressure: residing in proximity to industry, nonconventional substance abuse, and age when smoking or exposure to smoking began. Ethnicity was a significant predictor of heart disease, thalassemia, sickle-cell anemia, and iron-deficiency anemia. In addition, predictors of thalassemia included gender (female) and participating in physical activity. Participants diagnosed with sickle-cell anemia and iron-deficiency anemia were more likely to experience different physical activities.


Assuntos
Anemia Ferropriva/epidemiologia , Anemia Falciforme/epidemiologia , Cardiopatias/epidemiologia , Hipertensão/epidemiologia , Talassemia/epidemiologia , Adolescente , Anemia Ferropriva/etnologia , Anemia Falciforme/etnologia , Feminino , Cardiopatias/etnologia , Humanos , Hipertensão/etnologia , Estilo de Vida , Masculino , Prevalência , Características de Residência , Fatores de Risco , Fatores Sexuais , Talassemia/etnologia , Emirados Árabes Unidos/epidemiologia
16.
Asia Pac J Clin Nutr ; 21(3): 416-24, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22705433

RESUMO

Iron deficiency was absent in a recent population assessment of rural Bangladeshi women exhibiting anemia (57%), suggesting other causes of low hemoglobin. We assessed the relative influence on anemia of thalassemia, groundwater arsenic and iron, and diet among women of reproductive age living in rural Bangladesh. Women (n=207) sampled from a previous antenatal nutrient intervention trial in rural Bangladesh were visited during two seasons in 2008. Collected data included 7-day dietary and 24-hour drinking water intake recalls, 7-day morbidity recall, anthropometry, and drinking water arsenic and iron concentrations. Capillary blood was analyzed for iron (plasma ferritin, soluble transferrin receptor), inflammation (C-reactive protein) and thalassemia (ß thalassemia and Hb E) status. In stratified, adjusted analyses, only parity was associated with anemia (odds ratio, OR (95% CI): 11.34 (1.94, 66.15)) for those with thalassemia (28% prevalent). In contrast, groundwater iron intake (>30 mg/d, 0.48 (0.24, 0.96)) and wasting (2.32 (1.17, 4.62)) were associated with anemia among those without thalassemia. Elevated groundwater arsenic (>50 µg/L, 12% of tubewells) and a diverse diet were unrelated to anemia regardless of thalassemia diagnosis (p>0.70 and >0.47, respectively). Among women in this typical rural Bangladeshi area, the prevalence of thalassemia was high and, unlike iron deficiency which was absent most likely due to high iron intake from groundwater, contributed to the risk of anemia. In such settings, the influence of environmental sources of iron and the role of thalassemias in contributing to anemia at the population level may be underappreciated.


Assuntos
Anemia/epidemiologia , Água Subterrânea/química , Ferro/análise , Saúde da População Rural , Talassemia/epidemiologia , Adulto , Anemia/sangue , Anemia/complicações , Anemia/etnologia , Anemia Ferropriva/sangue , Anemia Ferropriva/epidemiologia , Anemia Ferropriva/etnologia , Arsênico/análise , Bangladesh/epidemiologia , Dieta/efeitos adversos , Água Potável/química , Feminino , Hemoglobina E/análise , Humanos , Ferro na Dieta/administração & dosagem , Paridade , Prevalência , Risco , Saúde da População Rural/etnologia , Talassemia/sangue , Talassemia/complicações , Talassemia/etnologia , Síndrome de Emaciação/sangue , Síndrome de Emaciação/complicações , Síndrome de Emaciação/epidemiologia , Síndrome de Emaciação/etnologia , Adulto Jovem
17.
Nepal Med Coll J ; 14(1): 49-52, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23441495

RESUMO

This is the first study characterizing spectrum of beta-thalassemia mutations in Nepalese population. Mutations were analyzed in 22 patients using 10 sets of allele-specific primers. Five of the mutations, namely F.S 41/42 (--TCTT), IVS1 nt5 (G-->C), IVS1 nt1 (G-->T), 619 bp deletion and F.S 8/9 (+G), were found to constitute 87.82% of total alleles studied. F.S 41/42 (--TCTT) was the commonest mutation. -88 (C-->T), Codon 16 (--C) and Codon 15 (G-->A), had a combined frequency of 12.18%. Distribution of mutations causing beta-thalassemia in different ethnic Nepalese groups was analyzed. The mutational profile in Nepal share several similarities with that from the two neighboring countries, India and China. Detection of more than one mutation in three cases of thalassemia trait raises the likelihood of existence of multiple mutations in cis in Nepalese thalassemic carriers. Such possibility has to be carefully considered while developing prenatal screening program for Nepalese population.


Assuntos
Talassemia/etnologia , Talassemia/genética , Alelos , Feminino , Humanos , Masculino , Mutação , Nepal/epidemiologia , Talassemia/epidemiologia
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 28(5): 579-82, 2011 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-21983740

RESUMO

OBJECTIVE: To investigate the carrier rate of thalasaemia among the children of 10 minority ethnic groups in 3 border states (Xishuangbanna, Dehong and Nujiang) of Yunnan Province. METHODS: A total of 6562 samples of children under 10 years old were analyzed by blood cell automatic analysis and hemoglobin electrophoresis. RESULTS: The overall carrier frequency of thalasaemia was highest (46.2%) in Dehong, and lowest (30.6%) in Nujiang. The carrier frequency of beta-thalasaemia was the highest (40.6%) in Achang, and lowest (2.5%) in Dulong. The carrier frequency of alpha-thalasaemia was the highest (22.1%) in Dai from Xishuangbanna, followed by Dulong (19.1%). CONCLUSION: Thalasaemia carrier rates were high among the children of 10 minority ethnic groups in Yunnan. There were regional differences in their incidences. The results provide a valuable basis for thalasaemia prevention in Yunnan minorities in the three border states.


Assuntos
Grupos Minoritários , Talassemia/etnologia , Criança , Pré-Escolar , China/epidemiologia , Hemoglobinas Anormais/genética , Humanos , Lactente , Recém-Nascido , Prevalência , Talassemia/genética , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Talassemia beta/epidemiologia , Talassemia beta/genética
19.
Ethn Dis ; 21(3): 361-9, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21942171

RESUMO

OBJECTIVE: To describe the challenges, including sociocultural and socioeconomic barriers, faced by an urban immigrant population in the United States affected by thalassemia major. DESIGN: Ethnographic, semi-structured, 1-on-1 interviews using an interview guide developed for this study. Digital recordings were transcribed and data analyzed using constant comparative method. SETTING: University-based, Comprehensive Thalassemia Program at Children's Memorial Hospital, Chicago, IL, USA. PARTICIPANTS: Fourteen Southeast Asian and Asian Indian parents of children with transfusion dependent thalassemia. MAIN OUTCOME MEASURE: Qualitative descriptions of parental experiences, frequency of codes applied to interviews and emergent themes. RESULTS: Thalassemia has its greatest impact on the emotional and social well-being of affected children and their parents. Current and future concerns were related to disease-specific complications and challenges with management such as transfusions and chelation therapy. These perceptions were tied to parental hope for a cure, a frequently coded coping mechanism. Despite their availability, few parents relied on support systems beyond immediate family members due to perceived public knowledge gaps about thalassemia. Culturally based past experiences and barriers did not emerge as dominant themes in our analysis. CONCLUSION: The impact of thalassemia is tremendous for affected children and their parents and is due more to factors that were either disease-specific or common to other chronic disease models rather than those influenced by culture. The unmet needs of these families require additional investigation to facilitate the development of initiatives aimed at improving quality of life and lessening overall impact of thalassemia


Assuntos
Talassemia/etnologia , Adolescente , Ásia/etnologia , Ásia Sudeste/etnologia , Chicago/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Emigrantes e Imigrantes , Feminino , Humanos , Entrevistas como Assunto , Masculino , Pesquisa Qualitativa , Estados Unidos/epidemiologia , Adulto Jovem
20.
Hemoglobin ; 35(4): 434-8, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21797712

RESUMO

In this study, we report our experience with chorionic villus sampling (CVS) for prenatal diagnosis of thalassemia in mainland China. During a 4-year period, 308 pregnant women chose to have CVS for prenatal diagnosis. Chorionic villus sampling was successful in all cases, and post-CVS abortion was seen in only two cases (0.6%). DNA diagnosis was correctly done in 307 (99.7%) prenatal samples but maternal contamination was found in one (0.3%) subject. In total, 77 pregnancies were found with an affected fetus, and all of the affected pregnancies were terminated within 1 week after the CVS procedure. Our experience indicates that CVS is a feasible and effective technique for prenatal diagnosis of thalassemia.


Assuntos
Amostra da Vilosidade Coriônica/métodos , Diagnóstico Precoce , Doenças Fetais/diagnóstico , Talassemia/diagnóstico , Aborto Eugênico , Adulto , Grupo com Ancestrais do Continente Asiático , China , Estudos de Viabilidade , Feminino , Doenças Fetais/etnologia , Doenças Fetais/genética , Humanos , Cariotipagem , Gravidez , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Talassemia/etnologia , Talassemia/genética , Adulto Jovem
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