Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 6.714
Filtrar
1.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 28(4): 1316-1320, 2020 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-32798419

RESUMO

OBJECTIVE: To explore the abnormal hemoglobinopathy in couples of child-bearing age in Chongqing. METHODS: A total of 34 800 subjects of child-bearing age were screened for thalassemia by using capillary electrophoresis from January 2015 to September 2018. PCR-flow cytometry fluorescence hybridization assay was used to detect the common thalassemia gene deletions and mutations. RESULTS: 8 kinds of abnormal hemoglobinopathy were detected in 200 cases from 34 800 subjects of child-bearing age, the detection rate was 0.57% in couples of child-bearing age in Chongqing: Among 200 cases of abnormal hemoglobin pathy, Hb E was found in 90 cases (accounting for 45.0%), and Hb D in 25 cases (accounting for 12.5%). Hb NewYork was found in 25 cases (accounting for 12.5%). HbJ-bangkok was found in 25 cases (accounting for 12.5%), and Hb Q-Thailand in 16 cases (accounting for 8.0%). Hb Hope was detected in 15 cases (accounting for 7.5%). Hb S was detected in 3 cases (accounting for 1.5%). Hb Hasharon was detected in 1 case (accounting for 0.5%). The mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) of Hb E and Hb Q-Thailand were lower than normal reference intervals. CONCLUSION: The detection rate of abnormal hemoglobinopathy in Chongqing is higher than the average level in China. Capillary electrophoresis can effectively screen abnormal hemoglobinopathy, which is great significant for aristogenesis and improvement of population quality.


Assuntos
Hemoglobinopatias , Hemoglobinas Anormais , Talassemia , Criança , China , Eletroforese Capilar , Humanos , Tailândia
2.
Niger Postgrad Med J ; 27(3): 190-195, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32687118

RESUMO

Background: Haemoglobin (Hb) disorders are among the most common blood genetic disorders worldwide, and they constitute an important cause of morbidity and mortality, especially in Nigeria. Despite the clinical significance of early diagnosis, newborn screening for these conditions is not routinely done in Nigeria. Objective: This study was undertaken to document the pattern of Hb phenotypes of newborn babies at the National Hospital Abuja and highlight the relevance of neonatal screening for early diagnosis of abnormal Hb phenotypes in Nigeria. Subjects and Methods: A prospective study of eligible newborn babies delivered in the hospital at the study site was undertaken following parental informed consent. Venous blood was collected from the babies into an ethylenediaminetetraacetic acid sample bottles. The samples were analysed using high-performance liquid chromatography (HPLC) techniques, and the Hb phenotypes obtained were documented. Data were analysed using the Statistical Package for Social Sciences (SPSS) version 20 (IBM-SPSS, Armonk, NY, USA). Results: Three hundred and eleven newborns (male = 173, female = 138) aged 0-28 days were recruited. Two hundred and thirty-six (75.9%) babies had Hb AA (FA) phenotype, 63 (20.3%) Hb AS (FAS), 6 (1.9%) Hb SS (FS), 4 (1.3%) Hb AC (FAC) and 2 (0.6%) had abnormal HbA variants. The overall prevalence of abnormal Hb phenotype was 24.1%. The results showed a significant association of sex (P = 0.003) and ethnicity (P = 0.047) with Hb phenotype. Conclusion: There is a wide spectrum of abnormal Hb phenotypes in Nigeria, and these phenotypes can easily be detected at birth using HPLC. We, therefore, recommend routine neonatal screening for sickle cell disease by HPLC in Nigeria.


Assuntos
Anemia Falciforme/sangue , Cromatografia Líquida de Alta Pressão/métodos , Hemoglobinas Anormais/análise , Hemoglobinas/análise , Recém-Nascido/sangue , Traço Falciforme/sangue , Adolescente , Adulto , Grupo com Ancestrais do Continente Africano , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Criança , Pré-Escolar , Hemoglobina Falciforme , Hemoglobinas/classificação , Hemoglobinas Anormais/genética , Humanos , Lactente , Nigéria/epidemiologia , Fenótipo , Prevalência , Estudos Prospectivos , Adulto Jovem
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(3): 235-242, 2020 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-32128738

RESUMO

Alpha-thalassemia is an autosomal recessive genetic disease as well as a relatively common hemoglobinopathy. Severe alpha-thalassemia (also known as Hb Bart's Hydrops fetalis syndrome) and intermediate alpha-thalassemia (also known as Hb H disease) are among the most common birth defects in southern China. To implement carrier screening and large population prevention program in high incidence areas can significantly reduce the incidence of alpha-thalassemia. This guideline was established by combining the discoveries of basic research, clinical research and guidelines from other countries and the actual data of Chinese population. It has summarized the medical genetics knowledge and key points in the clinical treatment for alpha-thalassemia, and provided suggestions for the clinical diagnosis and standard management of patients.


Assuntos
Hidropisia Fetal/diagnóstico , Hidropisia Fetal/terapia , Guias de Prática Clínica como Assunto , Talassemia alfa/diagnóstico , Talassemia alfa/terapia , China , Genética Médica , Hemoglobinas Anormais , Humanos
4.
Gene ; 741: 144544, 2020 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-32165295

RESUMO

The Maldives is an archipelago of 407,660 people according to population census of 2014, made up of 20 atolls, which has one of the highest prevalence of ß-thalassemia worldwide. However, there is a dearth of studies related to ß-thalassemia in the Maldives; therefore, in this study, we aimed to investigate the genetic epidemiology of ß-thalassemia in Maldives. Blood samples were collected from 110,504 participants (1992-2015). Hemoglobin and RBC indices were measured on automated hematology analyzers. The quantitation of hemoglobin, HbA2, Hb F, and other abnormal Hb variants were assessed by HPLC. Molecular analysis was performed for the most common mutations in Southeast Asia for only 874 individuals either heterozygous or homozygous for these mutations using reverse dot blot hybridization. We screened 110,504 individuals for ß-thalassemia between 1992 and 2015, which is ~ 30% of the entire population. The ß-thalassemia carrier frequency was estimated to be 16.2%. Molecular diagnosis of 874 ß-thalassemia carriers/major was performed for the most common seven mutations in Southeast Asia; of these, 139 patients were diagnosed as ß-thalassemia major. This analysis showed that the most common mutations were IVS1 + 5G > C, (678; 77.6%), followed by the CD 30 (136; 15.6%). The least frequent mutation was FS8/9, (1, 0.001%), followed by IVS1 + 1G > T and CD15 (2; 0.2%). The frequency of ß-thalassemia varies significantly among the 20 different atolls in Maldives. This study is expected to improve genetic counseling, creating awareness, enhance premarital screening, and customize the prevention and treatment strategies based on the needs of each atoll.


Assuntos
Aconselhamento Genético , Epidemiologia Molecular , Globinas beta/genética , Talassemia beta/genética , Feminino , Genótipo , Hemoglobinas Anormais/genética , Heterozigoto , Humanos , Ilhas do Oceano Índico , Masculino , Programas de Rastreamento/métodos , Mutação , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia
5.
BMC Med Genet ; 21(1): 43, 2020 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-32111191

RESUMO

BACKGROUND: Individuals with δß-thalassemia/HPFH and ß-thalassemia usually present with intermedia or thalassemia major. No large-scale survey on HPFH/δß-thalassemia in southern China has been reported to date. The purpose of this study was to examine the molecular epidemiology and hematologic characteristics of these disorders in Guangzhou, the largest city in Southern China, to offer advice for thalassemia screening programs and genetic counseling. METHODS: A total of 125,661 couples participated in pregestational thalassemia screening. 654 subjects with fetal hemoglobin (HbF) level ≥ 5% were selected for further investigation. Gap-PCR combined with Multiplex ligation dependent probe amplification (MLPA) was used to screen for ß-globin gene cluster deletions. Gene sequencing for the promoter region of HBG1 /HBG2 gene was performed for all those subjects. RESULTS: A total of 654 individuals had hemoglobin (HbF) levels≥5, and 0.12% of the couples were found to be heterozygous for HPFH/δß-thalassemia, including Chinese Gγ (Aγδß)0-thal, Southeast Asia HPFH (SEA-HPFH), Taiwanese deletion and Hb Lepore-Boston-Washington. The highest prevalence was observed in the Huadu district and the lowest in the Nansha district. Three cases were identified as carrying ß-globin gene cluster deletions, which had not been previously reported. Two at-risk couples (0.0015%) were required to receive prenatal diagnosis. We also found 55cases of nondeletional-HPFH (nd-HPFH), including 54 with Italian nd-HPFH and one with the Aγ-197C-T heterozygous state. It is difficult to discriminate between Chinese Gγ (Aγδß)0-thal and Italian nd-HPFH carriers using hemoglobin (Hb) analysis. CONCLUSIONS: This study is the first to describe the familial prevalence of HPFH/δß-thalassemia and the high-risk rate in Greater Guangzhou Area, and the findings will support the implementation of thalassemia screening for three common deletions by gap-PCR. We also presented a systematic description of genotype-phenotype relationships which will be useful for genetic counseling and prenatal diagnostic services for ß-thalassemia intermedia.


Assuntos
Hemoglobina Fetal/genética , Talassemia beta/epidemiologia , Talassemia beta/genética , Talassemia delta/epidemiologia , Talassemia delta/genética , Adulto , Grupo com Ancestrais do Continente Asiático/genética , China/epidemiologia , Cidades/epidemiologia , Família , Feminino , Hemoglobinas Anormais/genética , Humanos , Masculino , Pessoa de Meia-Idade , Epidemiologia Molecular , Prevalência , Adulto Jovem , Globinas beta/genética , Talassemia beta/sangue , Talassemia delta/sangue
6.
Ann Biol Clin (Paris) ; 78(1): 61-69, 2020 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-32108581

RESUMO

Hemoglobin D-Punjab is a common hemoglobin variant in India but very rare in Morocco. Often, its presence has minimal or no clinical impact. Its heterozygous association with ß-thalassemia is exceptional. The purpose of the study is to describe the epidemiological, diagnostic and prophylactic aspects of hemoglobinosis D-Punjab from a family case study. MATERIAL AND METHODS: Case study of hemoglobinosis D-Punjab in a Moroccan family, diagnosed at the Laboratory of Biochemistry-Toxicology of the Mohammed V Military Teaching Hospital. The biological study was based on iron and hemolysis checkups, hemogram and study of hemoglobin (electrophoresis in alkaline and acid medium, high performance liquid chromatography). The index patient also benefited from sequencing by molecular biology. RESULTS: The index patient was heterozygous D-Punjab/ß0-thalassemia, confirmed by molecular biology. Two of her sisters had the same hemoglobin profile. At electrophoresis, all three had hemoglobin D-Punjab higher than 90%, hemoglobin A less than 1% and hemoglobin A2 higher than 6%. The results of the three hemograms showed similar abnormalities (pseudo-polycythemia, hypochromia, microcytosis, anisopoikilocytosis). Six other members of the family had a thalassemic trait and another three had heterozygous hemoglobinosis D-Punjab. CONCLUSION: Hemoglobin D-Punjab remains extremely rare in Morocco and very poorly documented in the literature. The number of reported cases is expected to raise due to increasing migration. Biologist advisory services require a precise diagnosis in order to give correct genetic counseling.


Assuntos
Hemoglobinas Anormais/genética , Talassemia beta/genética , Adolescente , Adulto , Criança , Família , Feminino , Estudos de Associação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos , Linhagem , Talassemia beta/sangue
10.
Am J Obstet Gynecol ; 222(2): 185.e1-185.e17, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31394068

RESUMO

BACKGROUND: Thalassemia is one of the most common monogenetic diseases in the south of China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a homozygous Southeast Asian deletion (-/-) in the HBA gene. Few studies have proved the potential of screen for Bart's hydrops fetalis using fetal cell-free DNA. However, the number of cases is still relatively small. Clinical trials of large samples would be needed. OBJECTIVE: In this study, we aimed to develop a noninvasive method of target-captured sequencing and genotyping by the Bayesian method using cell-free fetal DNA to identify the fetal genotype in pregnant women who are at risk of having hemoglobin Bart hydrops fetalis in a large-scale study. STUDY DESIGN: In total, 192,173 couples from 30 hospitals were enrolled in our study and 878 couples were recruited, among whom both the pregnant women and their husbands were detected to be carriers of Southeast Asian type (-/αα) of α-thalassemia. Prenatal diagnosis was performed by chorionic villus sampling, amniocentesis, or cordocentesis using gap-polymerase chain reaction considered as the golden standard. RESULTS: As a result, we found that the sensitivity and specificity of our noninvasive method were 98.81% and 94.72%, respectively, in the training set as well as 100% and 99.31%, respectively, in the testing set. Moreover, our method could identify all of 885 maternal samples with the Southeast Asian carrier and 36 trisomy samples with 100% of sensitivity in T13, T18, and T21 and 99.89% (1 of 917) and 99.88% (1 of 888) of specificity in T18 and T21, respectively. CONCLUSION: Our method opens the possibility of early screening for maternal genotyping of α-thalassemia, fetal aneuploidies in chromosomes 13/18/21, and hemoglobin Bart hydrops fetalis detection in 1 tube of maternal plasma.


Assuntos
Hemoglobinas Anormais/genética , Hidropisia Fetal/diagnóstico , Amniocentese , Teorema de Bayes , Ácidos Nucleicos Livres , Amostra da Vilosidade Coriônica , Cordocentese , Síndrome de Down/diagnóstico , Feminino , Genótipo , Heterozigoto , Humanos , Hidropisia Fetal/genética , Teste Pré-Natal não Invasivo , Gravidez , Sensibilidade e Especificidade , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Talassemia alfa/diagnóstico , Talassemia alfa/genética
11.
Ultraschall Med ; 41(2): 186-191, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29415313

RESUMO

OBJECTIVE: To assess fetal cardiac remodeling in response to anemia, by comparing the fetal cardiac dimensions and global sphericity index (GSI) of normal fetuses and fetuses with anemia using fetal Hb Bart's disease as a study model. METHODS: Fetuses at risk for Hb Bart's disease undergoing cordocentesis at 18 to 22 weeks of gestation were recruited. Fetal cardiac dimensions including GSI (cardiac length to cardiac width ratio), interventricular septum thickness (IVST), left ventricular wall thickness (LVWT) and right ventricular wall thickness (RVWT) were measured. RESULTS: 215 pregnancies at risk met the inclusion criteria, including 54 affected fetuses and 161 normal fetuses. The mean GSI was significantly lower in the affected group (1.11 ±â€Š0.06 vs. 1.26 ±â€Š0.09, p-value 0.017). The GSI of the normal group was relatively constant regardless of gestational age. The IVST and LVWT tended to increase, but not significantly, in the affected group, whereas the RVWT was minimally but significantly increased. The ROC curve for GSI had an area under curve of 0.844. The best cut-off of GSI was 1.17, giving a sensitivity of 74.1 % and a specificity of 88.2 %. CONCLUSION: Fetal cardiac remodeling in response to anemia causes a marked decrease in global GSI with minimal hypertrophy as an adaption to volume overload. Importantly, GSI is a new maker for anemia and may play a role in clinical application for early detection of fetal anemia, possibly due to any cause. Additionally, GSI measurement is simple and gestational age-independent.


Assuntos
Anemia , Hemoglobinas Anormais , Remodelação Ventricular , Talassemia alfa , Anemia/complicações , Feminino , Feto , Humanos , Gravidez , Segundo Trimestre da Gravidez , Talassemia alfa/complicações
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(11): 1130-1132, 2019 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-31703143

RESUMO

OBJECTIVE: To analyze the hematological characteristics of a patient with Hb Ottawa in conjunction with ß -thalassemia. METHODS: Peripheral blood samples from the proband and her parents were collected and subjected to red blood cell analysis and hemoglobin electrophoresis. Genotypes of α - and ß -globin genes were also analyzed. RESULTS: The proband and her mother were both heterozygotes for Hb Ottawa and ß -thalassemia variant IVS II-654, and presented with typical ß -thalassemia trait featuring hypochromic microcytic anemia. An abnormal hemoglobin band was detected upon electrophoresis. CONCLUSION: Co-existence of Hb Ottawa and ß -thalassemia may not aggravate the phenotype.


Assuntos
Hemoglobinas Anormais/genética , Talassemia beta/genética , Feminino , Testes Genéticos , Heterozigoto , Humanos , alfa-Globinas/genética , Globinas beta/genética
14.
Hemoglobin ; 43(4-5): 241-244, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31690131

RESUMO

Although mutations causing α-thalassemia (α-thal) are mainly larger deletions involving one or both of the duplicated α-globin genes, point mutations are not rare. We have identified a novel mutation of the translation initiation codon of the α2-globin gene with DNA sequencing and allele-specific multiplex ligation-dependent probe amplification (MLPA) in a Chinese family. RNA analysis was performed with reverse transcription-MLPA (RT-MLPA). A novel mutation at the translation initiation codon of the α2-globin gene (HBA2: c.3G>C) was identified. The proband and his father, who were both carriers of this mutation, had a hematological phenotype of mild α+-thalassemia (α+-thal) trait with low-normal limit of mean corpuscular volume (MCV) and normal Hb A2. RNA analysis showed markedly decreased levels of α-globin mRNA and the presence of a small amount of mutant mRNA. The HBA2: c.3G>C mutation most likely caused α-thal by lowering levels of wild α-globin chain. Our study increases the mutation spectrum of α-thal.


Assuntos
Códon de Iniciação/genética , Mutação Puntual , alfa-Globinas/genética , Talassemia alfa/genética , Grupo com Ancestrais do Continente Asiático , Sequência de Bases , Índices de Eritrócitos , Família , Feminino , Hemoglobina A2/genética , Hemoglobinas Anormais/genética , Humanos , Masculino , Fenótipo
15.
Hemoglobin ; 43(4-5): 245-248, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31687860

RESUMO

The capillary electrophoresis (CE) system allows the quantification of Hb Bart's (γ4) and Hb H (ß4) that is used for screening of Hb H disease. However, Hb Bart's hydrops fetalis and Hb H are not always codetected in patients with Hb H disease. In this study, 35 samples were analyzed for the α0-thalassemia (α0-thal) [- -SEA (Southeast Asian) and - -THAI (Thailand)] deletions and the α+-thal [-α3.7 (rightward) and -α4.2 (leftward)] type deletions using real time-polymerase chain reaction (real time-PCR) with SYBR Green1 and high-resolution melting (HRM) analysis and conventional gap-PCR techniques, respectively. Results showed that 28 of 29 (96.6%) samples with the Hb A2-Hb H phenotype on CE electrophoregrams presented the genotype of - -SEA/-α3.7, while the - -SEA/-α4.2 made up the remainder. The - -SEA/-α3.7 genotype was also found in all six samples (100.0%) with Hb A2-Hb Bart's on CE electrophoregrams. Thus, for genetic counseling, prevention and control programs of Hb Bart's hydrops fetalis and Hb H disease, α-thal genotype analysis is required.


Assuntos
Eletroforese Capilar/métodos , Hemoglobina A2/genética , Hemoglobina H/genética , Hemoglobinas Anormais/genética , Deleção de Sequência , Feminino , Genótipo , Humanos , Hidropisia Fetal/diagnóstico , Gravidez , Diagnóstico Pré-Natal/métodos , Talassemia alfa/diagnóstico , Talassemia alfa/genética
16.
Hemoglobin ; 43(4-5): 273-276, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31657650

RESUMO

High oxygen affinity hemoglobins (Hbs), characterized by a decreased ability to release oxygen to the tissues and a left-shifted oxygen dissociation curve, are a rare cause of secondary erythrocytosis. Here, we report a base substitution in the ß-globin gene at codon 89 (AGT>AGG) in a kindred with familial erythrocytosis resulting in Hb Vanderbilt, a high oxygen affinity variant.


Assuntos
Substituição de Aminoácidos , Hemoglobinas Anormais/genética , Globinas beta/genética , Arginina , Humanos , Oxigênio/metabolismo , Policitemia/congênito , Policitemia/genética , Serina
17.
Hemoglobin ; 43(4-5): 286-288, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31650882

RESUMO

Here we report a 67-year-old Chinese male carrying an unstable novel hemoglobin (Hb) variant in compound heterozygosity with the - -SEA (Southeast Asian) α-thalassemia (α-thal) deletion. Hemoglobin analysis by capillary electrophoresis (CE) revealed a rapid degradation feature of the variant. Sanger sequencing of the Hb gene revealed a novel homozygous mutation in exon 2 of the α1-globin gene [α52(E1)Ser→Cys (TCT>TGT); HBA1: c.158C>G]. We named this novel variant Hb Dongguan for the place of origin of the proband. Additionally, gap-polymerase chain reaction (gap-PCR) indicated the presence of the heterozygous - -SEA α-thal deletion.


Assuntos
Hemoglobinas Anormais/genética , Heterozigoto , alfa-Globinas/genética , Talassemia alfa/genética , Idoso , Grupo com Ancestrais do Continente Asiático , Eletroforese Capilar , Homozigoto , Humanos , Masculino , Mutação , Estabilidade Proteica , Deleção de Sequência
18.
Hemoglobin ; 43(4-5): 236-240, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31635494

RESUMO

The α0-thalassemia (α0-thal) [- -SEA (Southeast Asian) deletion] is highly prevalent in Southeast Asia and South China. The linkage between the single nucleotide polymorphism (SNP) rs77308790 and the - -SEA deletion was reported in the Chinese population. This study reported the genotype of SNP rs77308790 using the high resolution melting (HRM) curve analysis in the Thai population and the application for double-checking diagnosis of Hb Bart's (γ4) hydrops fetalis syndrome. A total of 202 samples, including α0-thal carriers (- -SEA/αα) (n = 99) and wild-type (n = 103), was recruited. Minor allele frequency (MAF) of SNP rs77308790 (T allele) represented a significant difference (p<0.001) between carrier (- -SEA deletion) (MAF 0.455) and wild-type (MAF 0.039). The T allele of SNP rs77308790 showed a strong linkage with the - -SEA deletion allele [correlation coefficient between pairs of loci (D' = 1)] based on constructed random samples (CRSs) in Thais. Moreover, worldwide populations, based on the 1000Genomes database, also found the T allele to be less than 1.0%. For providing a double-checked diagnosis, two SNP (rs3760053, rs77308790) genotypes showed 100.0% concordance with a conventional gap-polymerase chain reaction (gap-PCR) method in nine families at-risk for Hb Bart's hydrops fetalis. The double-checked diagnosis based on the two SNPs (rs3760053, rs77308790) is suitable for implementation in routine diagnosis of Hb Bart's hydrops fetalis syndrome. Furthermore, our HRM analysis system can be amplified with a small amount of fetal DNA and could avoid allele dropouts.


Assuntos
Ligação Genética , Hidropisia Fetal/diagnóstico , Polimorfismo de Nucleotídeo Único , Diagnóstico Pré-Natal/métodos , Deleção de Sequência , Talassemia alfa/genética , Alelos , Família , Feminino , Hemoglobinas Anormais/genética , Humanos , Masculino , Gravidez , Tailândia
19.
PLoS One ; 14(10): e0223996, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31661492

RESUMO

α0-Thalassemia is an inherited hematological disorder caused by the deletion of α-globin genes. The Southeast Asian deletion (--SEA) is the most common type of α0-thalassemia observed in Southeast Asian countries. Regarding WHO health policy, an effective α0-thalassemia screening strategy is needed to control new severe α-thalassemia cases. In this study, a monoclonal antibody panel was used to develop immunochromatographic (IC) strip tests for detecting the Hb Bart's and ζ-globin chain. Among 195 samples, all α0-thalassemia traits (78 α0-thalassemia (--SEA) and 4 α0-thalassemia (--THAI)) had low MCV or MCH values. The sensitivity, specificity, PPV and NPV of the IC strip tests for ζ-globin and Hb Bart's for screening α0-thalassemia (--SEA) within the low MCV or MCH samples were 100%, 65.2%, 90.7%, 100% and 96.2%, 47.8%, 86.6%, 78.6%, respectively. All 4 α0-thalassemia (--THAI) traits were negative for ζ-globin chains but positive for Hb Bart's using the IC strip tests. These results led to a α0-thalassemia screening being proposed in which blood samples are first evaluated by MCV, MCH and Hb typing. Samples with high MCV and MCH values are excluded for the presence of the α0-thalassemia gene. Samples with low MCV or MCH values are assayed using the developed IC strip tests, where only samples testing positive are further assayed for α0-thalassemia by PCR. Patients with Hb H, EA Bart's or EF Bart's diseases do not need to use this IC strip assay. Thus, in this study, a simple and cost effective α0-thalassemia point of care test was developed.


Assuntos
Cromatografia de Afinidade/métodos , Hemoglobinas Anormais/análise , Talassemia alfa/classificação , Talassemia alfa/diagnóstico , Globinas zeta/análise , Estudos de Casos e Controles , Diagnóstico Diferencial , Humanos , Talassemia alfa/sangue
20.
Hemoglobin ; 43(4-5): 254-257, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31599656

RESUMO

To provide the molecular information on hemoglobinopathies in the Myanmar population, the study was carried out on Myanmar workers in Khon Kaen Province in northeast Thailand. A total of 300 anonymous Myanmar factory workers were randomly recruited during their annual medical checkup. Hemoglobinopathies were identified using hemoglobin (Hb) and DNA analyses. These identified heterozygous α0-thalassemia (α0-thal) [- -SEA (Southeast Asian) deletion] (n = 5, 1.7%), heterozygous α+-thal (n = 103, 34.3%), homozygous α+-thal (n = 12, 4.0%), heterozygous ß-thalassemia (ß-thal) (n = 3, 1.0%), heterozygous ß-thal with homozygous α+-thal (n = 2, 0.7%), double heterozygous ß-thal/α0-thal (n = 1, 0.3%)], heterozygous Hb E (HBB: c.79G>A) with α0-thal/α+-thal (n = 1, 0.3%), heterozygous Hb E (n = 27, 9.0%), heterozygous Hb E with α+-thal (n = 24, 8.0%), homozygous Hb E with α0-thal/α+-thal (n = 1, 0.3%), homozygous Hb E (n = 3, 1.0%) and homozygous Hb E with heterozygous α+-thal (n = 3, 1.0%). No thalassemia defect was found in the remaining 115 subjects (38.4%). Haplotypes associated with Hb E and Hb Dhonburi (or Hb Neapolis) [ß126(H4)Val→Gly, codon 126 (T>G), HBB: c.380T>G] are reported. While the proportions of α0-thal, ß-thal and Hb E are comparable to those described in neighboring countries, a markedly high prevalence of α+-thal (48.6% in total) is unexpected. The molecular information obtained should provide necessary information for diagnostic improvement and planning of a prevention and control program of severe thalassemia in the Myanmar population.


Assuntos
Hemoglobinopatias/genética , Talassemia alfa/etnologia , Hemoglobina E , Hemoglobinopatias/etnologia , Hemoglobinas/análise , Hemoglobinas Anormais , Humanos , Mianmar/etnologia , Prevalência , Análise de Sequência de DNA , Tailândia/epidemiologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA