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1.
Niger J Clin Pract ; 24(6): 874-882, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34121736

RESUMO

Background: Sickle cell disease (SCD) is a monogenic, phenotypically highly variable disease with multisystem pathology. The phenotypic heterogeneity of SCD is attributed to environmental and genetic factors such as fetal hemoglobin and co-inheritance of α-thalassemia. Objectives: To look for different types of α-thalassemia gene mutations among SCD patients and evaluate the influence of the co-inheritance of α-thalassemia on clinical and hematological variables. Methods: This cross-sectional analytical study included 765 SCD patients, and 150 patients (with low mean corpuscular volume (MCV), low mean corpuscular hemoglobin (MCH) and normal serum ferritin levels) were tested for α-thalassemia gene mutations. Multiplex PCR and reverse hybridization and sequencing for both α genes using the Vienna Lab Strip Assay PCR study were performed using conventional PCR technology. Results: Out of 150 patients tested for α-thalassemia gene mutations, 141 patients were found to have one or more of the mutational types, representing 18.4% of all studied SCD patients. The most common mutations found were the -3.7 deletion (76.6%), followed by the -4.2 deletion (12.1%), mutant α2polyA-1 (Saudi type) (9.2%), and --MED double gene deletion (7.8%). Acute painful episodes did not differ significantly in sickle cell anemia (SCA) patients with or without α-thalassemia, although the co-inheritance of α-thalassemia has a protective role against many disease-related complications. However, this role was not observed with other types of SCD. The means of red blood cell count, hemoglobin, and hematocrit were significantly higher, while the MCV, MCH, reticulocyte count, and hemoglobin A2 percentage were significantly lower in patients with α-thalassemia gene mutations than in those without α-thalassemia gene mutations (P < 0.05). Conclusions: The co-inheritance of α-thalassemia and SCA confers protection against many disease-related complications and is associated with improved hematological indices. However, this protection was not noticed in patients with other types of SCD.


Assuntos
Anemia Falciforme , Talassemia alfa , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Estudos Transversais , Índices de Eritrócitos , Humanos , Mutação , Talassemia alfa/epidemiologia , Talassemia alfa/genética
2.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 29(3): 860-864, 2021 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-34105484

RESUMO

OBJECTIVE: To analyze the gene defect types and distribution characteristics of α- and ß-thalassemia in Lingui District of Guilin City, Guangxi, so as to provide scientific basis for genetic consultation and prevention measures. METHODS: A total of 6 496 suspected cases for screening the thalassemia during physical examination, premarital examination, pregnancy examination and hospitalization in the Second Affiliated Hospital of Guilin Medical University from May 2016 to October 2019 were analyzed. Gap-PCR, PCR-RDB and DNA sequencing techniques were used to detect the types and constituent ratios of gene defects in α- and ß-thalassemia positive cases. RESULTS: Among 6 496 suspected patients, 1 363 were thalassemia carriers, the total positive rate was 20.98%. There were 677 cases of single-gene deletion and 26 cases of double-gene detetion on the deletional α-thalassemia, 115 cases of non-deletion α-thalassemia mutation and 4 cases of deletion plus mutation. The positive rate of α-thalassemia was 12.66%. There were 11 gene abnormalities for α-thalassemia, of which --SEA/αα (50.36%) was the most common, followed by -α3.7/αα (23.84%); the main α-gene mutation was ααCS (6.93%). There were 514 ß-thalassemia gene carriers, with a positive rate of 7.93%. In 12 types of ß-gene mutations, CD41-42 (-TTCT) (55.64%) was the most common, followed by CD17 (A→T) (20.23%). There were 25 cases of double heterozygous α and ß thalassemia (0.39%), of which -α3.7/ßCD17 (24%) and --SEA/ß41-42 (16%) were numerically dominant. Two of rare thalassemia genotypes were identified by sequencing, which were heterozygous mutations of Chinese Hong Kong type α thalassemia (HKαα/αα or HKαα/-α3.7) and ß gene mutations IVS-I (-2) or codon30 (A→G) ß0, respectively. CONCLUSION: Lingui district of Guilin city is a high incidence area of thalassemia. The mutation rate of α-thalassemia --SEA/αα type deletion is relatively high, followed by that of the right deletion type (-α3.7/αα). CD41-42 (-TTCT) has the highest mutation rate in ß-thalassemia, followed by CD17(A→T). The results of this study provide reference data for the regional screening, diagnosis and treatment of thalassemia and eugenics.


Assuntos
Talassemia alfa , Talassemia beta , China/epidemiologia , Feminino , Genótipo , Heterozigoto , Humanos , Mutação , Gravidez , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Talassemia beta/epidemiologia , Talassemia beta/genética
3.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 29(3): 865-868, 2021 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-34105485

RESUMO

OBJECTIVE: To understand the genotypes and distribution characteristics of thalassemia in Baise, Guangxi Zhuang Autonomous Region, to provide references for the prevention and diagnosis of thalassemia in the region and improve the quality of eugenics. METHODS: 3 482 pregnant women and their spouses from January 2019 to August 2019 in Baise Maternal and Child Health Hospital for prenatal genetic diagnosis were selected, α, ß- thalassemia genes were detected by Gap-PCR, PCR and DNA reverse dot hybridization, cases carrying thalassemia gene were confirmed and statistical analyzed. RESULTS: 2 260 samples (64.90%) carrying thalassemia gene were found, among which 1 459 cases (64.56%) were diagnosed as α- thalassemia, 617 cases (27.30%) as ß- thalassemia, 184 cases (8.14%) as α complex ß- thalassemia. Among 1 459 α- thalassemia genes, --SEA /αα(637 cases, 43.66%), -α3.7 /αα (306 cases, 20.97%), -αCS /αα(143 cases, 9.80%), -α4.2 /αα(124 cases, 8.50%) and -αWS /αα(77 cases, 5.27%) were the most common, while among 617 ß- thalassemia genes, CD17 (229 cases, 37.12%), CD41-42 (213 cases, 34.52%), IVS-I-1 (41 cases, 6.65%), ßE (38 cases, 6.16%) and CD71-72 (34 cases, 5.51%) were the most common. And --SEA /αα/ CD17 (24 cases, 13.04%), -α4.2 /αα/ CD17 (13 cases, 7.07%), -α3.7 /αα/ CD41-42 (12 cases, 6.52% ) and --SEA /αα/ CD41-42 (12 cases, 6.52%) were mainly found in 184 cases of α complex ß - thalassemia. CONCLUSION: Genotyes of thalassemia in Baise, Guangxi Zhuang Autonomous Region are complex and diverse. The prenatal screening and diagnosis of thalassemia in the region should be strengthened in accordance with the characteristics of genetypes in the region, in order to reduce birth defects and improve eugenics quality.


Assuntos
Talassemia alfa , Talassemia beta , Criança , China , Feminino , Genótipo , Humanos , Mutação , Gravidez , Diagnóstico Pré-Natal , Talassemia alfa/diagnóstico , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Talassemia beta/diagnóstico , Talassemia beta/genética
4.
Ann Hematol ; 100(6): 1429-1438, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33851260

RESUMO

Thalassemia is a common genetic disorder. We aimed to present thalassemia mutation data that covers a period of 7 years from the Mediterranean region of Turkey by comparing with hemoglobin indices and to contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly. In this study, in which a retrospective archive was scanned, the cases were first grouped as α and ß thalassemia, and then ß thalassemia mutations were examined in a total of 5 groups as UTR-Pro, Codon, IVS, ß0, and ß+. We have reached the family of the proband that analyzed their Hb indices and genetic mutation. All mutations were statistically compared with Hb indices, HbF, and HbA2. We have identified two new ß thalassemia mutations that have the feature of not being defined previously [HBB:C*62 A>G. (3'UTR+1536 A>G) and HBB:C*1 G>A (3'UTR+1475 G>A)]. The most commonly encountered 23 mutations account for 74.7% of all mutations which is unlike the literature. In the ß thalassemia group, 73 different mutations were detected. The most common ß thalassemia mutation was HBB: c.93-21 G>A (IVS I-110 G>A) with a frequency of 19.72%. A statistically significant difference was found when comparing the mutation groups with Hb indices. We think that it may be useful to evaluate the mutations we have newly identified too together with the Hb indices especially in evaluating the carriers of thalassemia and it will contribute to prenatal diagnosis and genetic counseling studies which should be decided very quickly.


Assuntos
Polimorfismo de Nucleotídeo Único , Talassemia alfa/genética , Globinas beta/genética , Talassemia beta/genética , Regiões 3' não Traduzidas , Adolescente , Adulto , Feminino , Humanos , Masculino , Região do Mediterrâneo/epidemiologia , Mutação , Taxa de Mutação , Mutação Puntual , Estudos Retrospectivos , Turquia/epidemiologia , Adulto Jovem , Talassemia alfa/epidemiologia , Talassemia beta/epidemiologia
5.
J Pak Med Assoc ; 71(1(A)): 101-104, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33484530

RESUMO

OBJECTIVE: To evaluate the frequency of alpha thalassemia and detect mutations in the alpha genes in individuals undergoing premarital screening. METHODS: The cross-sectional study was conducted at King Fahad Central Hospital, Jazan, Saudi Arabia, from January 2018 to May 2019, and comprised blood samples of individuals visiting the premarital screening clinic. The samples were analyzed for complete blood counts and haemoglobin electrophoresis. Molecular analysis of samples suspected for alpha thalassemia was done using alpha-globin StripAssay kit. Data was anlaysed using SPSS 20. RESULTS: Of the 3,970 samples analysed, 1,859(46.83%) were from males and 2,111(53.17%) from females. The overall frequency of suspected alpha thalassemia was 4.43% based upon haematological parameters including complete blood count and haemoglobin electrophoresis. Overall, 80 suspected samples were selected for genetic analyses, and, of them, 76 (95%) were positive for deletional and non-deletional mutations of alpha-globin genes, while 4 (5%) were negative for any of the 21 mutations tested. CONCLUSIONS: Alpha thalassemia was found to be highly prevalent in the study area.


Assuntos
Talassemia alfa , Estudos Transversais , Feminino , Genótipo , Humanos , Masculino , Arábia Saudita , alfa-Globinas/genética , Talassemia alfa/epidemiologia , Talassemia alfa/genética
7.
MMWR Morb Mortal Wkly Rep ; 69(36): 1269-1272, 2020 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-32915167

RESUMO

Alpha-thalassemia comprises a group of inherited disorders in which alpha-hemoglobin chain production is reduced. Depending on the genotype, alpha-thalassemia results in moderate to profound anemia, hemolysis, growth delays, splenomegaly, and increased risk for thromboembolic events; certain patients might require chronic transfusions. Although alpha-thalassemia is not a core condition of the United States Recommended Uniform Screening Panel* for state newborn screening programs, methodologies used by some newborn screening programs to detect sickle cell disease, which is a core panel condition, also detect a quantitative marker of alpha-thalassemia, hemoglobin (Hb) Bart's, an abnormal type of hemoglobin. The percentage of Hb Bart's detected correlates with alpha-thalassemia severity. The Association of Public Health Laboratories' Hemoglobinopathy Workgroup conducted a survey of state newborn screening programs' alpha-thalassemia screening methodologies and reporting and follow-up practices. Survey findings indicated that 41 of 44 responding programs (93%) report some form of alpha-thalassemia results and 57% used a two-method screening protocol. However, the percentage of Hb Bart's used for thalassemia classification, the types of alpha-thalassemia reported, and the recipients of this information varied widely. These survey findings highlight the opportunity for newborn screening programs to revisit their policies as they reevaluate their practices in light of the recently released guideline from the Clinical and Laboratory Standards Institute (CLSI) on Newborn Screening for Hemoglobinopathies (1). Although deferring to local programs for policies, the report used a cutoff of 25% Hb Bart's in its decision tree, a value many programs do not use. Standardization of screening and reporting might lead to more timely diagnoses and health care services and improved outcomes for persons with a clinically significant alpha-thalassemia.


Assuntos
Triagem Neonatal/métodos , Talassemia alfa/diagnóstico , Feminino , Pesquisas sobre Serviços de Saúde , Humanos , Recém-Nascido , Masculino , Estados Unidos/epidemiologia , Talassemia alfa/epidemiologia
8.
BMC Res Notes ; 13(1): 65, 2020 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-32041645

RESUMO

OBJECTIVE: Alpha-thalassemia is a genetic disorder characterized by deletions of one or more α globin genes that result in deficient of α globin chains reducing haemoglobin concentration. The study aimed to screen 97 patients with microcytosis and hypochromasia for the 3.7 and 4.2 alpha thalassemia deletion mutations. RESULTS: Out of 97 patients screened, only 7 were carriers for the 3.7 deletion and all patients were negative for the 4.2 deletion. The 3.7 deletion was found in Foor, Hawsa and Rezagat Sudanese tribes. In the carriers of the 3.7 deletion, Red Blood Cells and Haematocrit were significantly increased. The Red Blood Cells were 7.23 ± 0.78 × 1012/L in adult males and 7.21 ± 0.67 × 1012/L in adult females while in children were 5.07 ± 0.87 × 1012/L. The mean cell volume and mean cell haemoglobin were significantly decreased, but the mean cell haemoglobin concentration slightly decreased. Haemoglobin levels didn't revealed statistically significant decrease in adult males (11.7 ± 0.57 g/dL) and adult females (11.25 ± 0.64 g/dL), while in children were (11.6 ± 2.95 g/dL). Haemoglobin electrophoresis revealed two patients of the 3.7 and 4.2 negative were carriers for ß-thalassemia. The study concluded that α3.7 deletion has frequency of 0.07 in Sudanese with hypochromasia and microcytosis.


Assuntos
Anemia Hipocrômica/genética , Cromossomos Humanos Par 3/genética , Cromossomos Humanos Par 4/genética , Testes Genéticos , Talassemia alfa/diagnóstico , Talassemia alfa/genética , Adolescente , Adulto , Anemia Hipocrômica/epidemiologia , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Deleção de Sequência , Sudão/epidemiologia , Adulto Jovem , Talassemia alfa/epidemiologia
9.
BMC Med Genet ; 21(1): 6, 2020 01 06.
Artigo em Inglês | MEDLINE | ID: mdl-31906886

RESUMO

BACKGROUND: Thalassemia is a group of inherited hemoglobic disorders resulting from defects in the synthesis of one or more of the hemoglobin chains, which is one of the most prevalent inherited disorders in southern China. Only few studies reported the molecular characterization of α- and ß-Thalassemia in Hubei Province in the central of China. METHODS: A total of 4889 clinically suspected cases of thalassemia were analyzed by Gap-PCR, PCR-based reverse dot blot (RDB). RESULTS: 1706 (33.8%) subjects harbored thalassemia mutations, including 539 (11.0%) subjects with α-thalassemia, 1140 (23.3%) subjects with ß-thalassemia mutations, and 25 (0.51%) subjects with both α- and ß-thalassemia mutations. Seven genotypes of α-thalassemia mutations and 29 genotypes of ß-thalassemia mutations were characterized. --SEA/αα (66.05%), -α3.7/αα (24.12%), and -α4.2/αα (3.71%) accounted for 93.88% of the α-thalassemia mutations. ßIVS-II-654/ßN, ßCD41-42/ßN, ßCD17/ßN, ßCD27-28/ßN, ßCD71-72/ßN, ß - 28/ßN, ß - 29/ßN, ßCD43/ßN, ßE/ßN, accounting for 96.40% of all ß-thalassemia genotypes. Furthermore, mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) were sensitive markers for both ß-thalassemia and α-thalassemia with --SEA/αα, but not -α3.7/αα and -α4.2/αα. CONCLUSIONS: Our data indicated great heterogeneity and extensive spectrum of thalassemias in Hubei province of China.


Assuntos
Genética Populacional , Hemoglobinas/genética , Talassemia alfa/genética , Talassemia beta/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , China , Feminino , Heterogeneidade Genética , Genótipo , Hemoglobinas/biossíntese , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Mutação , Adulto Jovem , Talassemia alfa/epidemiologia , Talassemia beta/sangue , Talassemia beta/epidemiologia
10.
J Clin Pathol ; 73(5): 278-282, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31653757

RESUMO

AIMS: Thalassemia is one of the most prevalent inherited disorders in south China. However, there still has no comprehensive research on molecular characterisation of α-thalassemia and ß-thalassemia in the Quanzhou region of Fujian province, a city with high incidence of thalassemia in Southeast China. METHODS: A total of 11 668 cases were collected in Quanzhou region from January 2013 to June 2019. The deletions of α-thalassemia were detected by Gap-PCR, α-thalassemia and ß-thalassemia mutations were detected by DNA reverse dot blot hybridisation. Rare thalassemia gene testing and DNA sequencing were performed to detect rare and novel thalassemia mutation for suspected rare thalassemia carriers. RESULTS: Among 11 668 subjects, 4796 (41.10%) subjects were diagnosed with thalassemia. 3298 (28.27%) subjects were α-thalassemia carriers, 26 types of α-thalassemia mutations were identified, with the common α-thalassemia genotypes being --SEA/αα (71.47%), -α3.7/αα (17.13%) and -α4.2/αα (3.49%). 1407 (12.06%) subjects were ß-thalassemia carriers, 18 types of ß-thalassemia mutations were identified. The common five genotypes of ß-thalassemia were ßIVS-II-654/ßN (36.53%), ßCD41-42/ßN (30.28%), ßCD17/ßN (17.13%), ßCD26/ßN (5.12%) and ß-28/ßN (4.62%). Additionally, 91 (0.78%) subjects with composite α-thalassemia and ß-thalassemia were identified. Furthermore, 9 α-thalassemia and ß-thalassemia gene mutations (CAP +40-43 (-AAAC), IVS-I-1 (G>T), IVS-I-5 (G>C), SEA-HPFH, CD53 (-T), CD37 (A>G), -90 (C>T), CD3 (T>C), -α6.9) were identified for the first time in the region. Among them, CD53 (-T), CD37 (A>G) and -90 (C>T) mutations were identified for the first time in Fujian province. Moreover, CD3 (T>C), -α6.9 mutations were first identified in Chinese individual. CONCLUSIONS: Quanzhou region of South China has high incidence of thalassemia mutations. In this study, several cases of rare thalassemia mutations have been identified, providing reference for clinical consultation. The completion of this study is of great significance to strengthen the prevention and control of thalassaemia in the Quanzhou region.


Assuntos
Mutação , Talassemia alfa/genética , Talassemia beta/genética , Adolescente , Adulto , China , Feminino , Marcadores Genéticos , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Análise de Sequência de DNA , Adulto Jovem , Talassemia alfa/diagnóstico , Talassemia alfa/epidemiologia , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia
11.
Int J Lab Hematol ; 42(1): 23-27, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31693295

RESUMO

INTRODUCTION: As compared to other neighboring countries, limited information on α-thalassemia diseases is available for Lao PDR. We reported for the first time a genetic diversity associated with Hb H and AEBart's diseases in Laos patients. METHODS: Study was done on Laos patients with Hb H disease (n = 14) and AEBart's disease (n = 14) whose blood specimens were transferred to our laboratory for the investigation of thalassemia. Hematological parameters were recorded. Hb analysis was done using a capillary electrophoresis system. α- and ß-globin genotypes were determined using PCR and related techniques. RESULTS: Hb and DNA analyses identified Hb H disease resulted from [--SEA /-α3.7 , ßA /ßA ] (n = 7), [--THAI /-α3.7 , ßA /ßA ] (n = 1), Hb H-Constant Spring (CS) disease (--SEA /αCS α, ßA /ßA ; n = 5), and Hb H-IVSI-117 (--SEA /ααIVSI-117G>A , ßA /ßA ; n = 1). For those of the AEBart's disease (n = 14), five were found to be AEBart's-CS disease [--SEA /αCS α, ßE /ßA ], two had [--THAI /αCS α, ßE /ßA ] genotype, six had AEBart's disease with (--SEA /-α3.7 , ßE /ßA ) genotype, and the remaining one was a patient with AEBart's-Pakse' [--SEA /αPS α, ßE /ßA ] disease. These --THAI and αIVSI-117G>A mutations are reported herein for the first time in Laos population. Accurate diagnosis in most cases was obtained after DNA analysis. CONCLUSIONS: This study demonstrates the diverse heterogeneity and highlights the importance of molecular diagnosis of α-thalassemia diseases in Laos population. Data on the molecular basis of α-thalassemia should prove useful for setting up a molecular diagnostic testing for thalassemia in Laos and further hemoglobin genetic study in the region.


Assuntos
Hemoglobinas Anormais/genética , alfa-Globinas/genética , Talassemia alfa/genética , Globinas beta/genética , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Laos/epidemiologia , Masculino , Talassemia alfa/epidemiologia
12.
J Pak Med Assoc ; 69(7): 959-963, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31308562

RESUMO

OBJECTIVE: To find frequency ofalpha Thalsaemia nhomozygous beta Thalsaemia patients, and to se any difernce infrequency and age ofirst ransfusion and mean haemoglobin concentration. METHODS: The single-centred, escriptive cros-sectional study was conducted athe National Instiute of Blod Disease and Bone Marow Transplantaion, Karchi, from June 1,2012, to May 31, 2013. Patients of homozygous beta halsaemia, diagnosed by polymerase chain reaction, wer tested for coinheritance of alpha Thalsaemia nd foetal haemoglobin XMN1 polymorphism using polymerase chain reaction. SPS 17 was used for dat anlysi. RESULTS: Of the 286 patients, 19(41.6%) wer males, and 9(34.6%) showed coinheritance ofalpha thalsaemia. In the coinheritance group, 50(50%) and 1(1%) patients recived 1-20 and 21-40 times transfusions per year espectively, while inthe non-coinheritance group, the coresponding numbers wer 125(67%) and 27(14.%). Overal, 73(25.%) patients had nevr ben transfused, including 38(13.%) patients inthe alpha Thalsaemia group. XMN1 polymorphism was found in 86(41%) ofthe 208 patients who wer tested and anlysed on this count. CONCLUSIONS: Alpha thalsemia was presnt inmore than one-third homozygous beta halsemia patients.


Assuntos
Talassemia alfa/epidemiologia , Talassemia beta/epidemiologia , Adolescente , Transfusão de Sangue , Criança , Pré-Escolar , Comorbidade , Feminino , Homozigoto , Humanos , Lactente , Recém-Nascido , Masculino , Paquistão/epidemiologia , alfa-Globinas/genética , Talassemia alfa/sangue , Talassemia alfa/genética , Talassemia alfa/terapia , Globinas beta/genética , Talassemia beta/sangue , Talassemia beta/genética , Talassemia beta/terapia
13.
Int J Lab Hematol ; 41(5): 650-656, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31271507

RESUMO

INTRODUCTION: Thalassemias and hemoglobinopathies are the most prevalent inherited anemias detected in South East Asians. These disorders represent not only a clinical health problem but also a socioeconomic problem for this region. Regarding the prevention and control of thalassemias and hemoglobinopathies in the Lao PDR, screening and diagnostic strategies should be strongly considered. The knowledge about the prevalence and molecular genotyping of thalassemias and hemoglobinopathies among the Lao Loum group, which includes the majority of Lao people, is now limited, making the prevention and control of thalassemias difficult. METHODS: This study aimed to determine the prevalence of thalassemia among Lao Loum subjects of reproductive age. Multiplex gap PCR and direct sequencing were used to investigate the mutations of α-globin and ß-globin genes. RESULTS: Thalassemias and hemoglobinopathies were detected in 154 of 354 (43.50%) patients, and 22 different genotypes were identified in this cohort. Remarkably, high frequencies of hemoglobin E, α0 -thalassemia (--SEA ), and α+ -thalassemia (-α3.7 ) were noted. A variety of hematologic features was observed, including co-inheritance of heterozygous HbE and heterozygous α-thalassemia, which was associated with significantly lower levels of MCV and MCH values than those observed in typical HbE heterozygotes. Female participants who were heterozygous for ß0 or co-inheritance of heterozygous ßE with heterozygous α-thalassemia exhibited mild anemia. CONCLUSION: Our data show that thalassemias and hemoglobinopathies have become health problems imposing a serious burden in the Lao PDR. Prevention programs aimed at decreasing the incidence of severe thalassemia diseases should be designed and initiated.


Assuntos
Hemoglobina E/genética , Hemoglobinopatias/genética , Mutação , alfa-Globinas/genética , Talassemia alfa/genética , Talassemia beta/genética , Adolescente , Feminino , Frequência do Gene , Testes Genéticos/métodos , Genótipo , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/epidemiologia , Humanos , Laos/epidemiologia , Masculino , Prevalência , Adulto Jovem , Talassemia alfa/diagnóstico , Talassemia alfa/epidemiologia , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia
14.
Sci Rep ; 9(1): 8264, 2019 06 04.
Artigo em Inglês | MEDLINE | ID: mdl-31164695

RESUMO

Abnormal haemoglobin (Hb) variants result in the most commonly inherited disorders in humans worldwide. In this study, we investigated the molecular epidemiology characteristics of Hb variants, along with associated structural and functional predictions in the Yunnan province population of Southwestern China. A total of 41,933 subjects who sought haemoglobinopathy screening were included. Based on bioinformatics and structural analysis, as well as protein modeling, the pathogenesis and type of Hb genetic mutations were characterized. Among all individuals studied, 328 cases (0.78%) were confirmed as carriers of Hb variants, with 13 cases (0.03%) presenting α-globin variants, 313 (0.75%) ß-globin variants, and two δ-globin variants. A total of 19 different mutations were identified, including three novel mutations. In addition, 48 cases of ααCS mutations and 14 cases of Hb H or Hb Bart's were found. The isoelectric point, evolutionary conservation, and genotype-phenotype correlation for these mutations were predicted. Additionally, secondary and tertiary protein structure modeling were performed for three selected mutations. In conclusion, the prevalence of Hb variants in the Yunnan population is much higher than other regions of China. Complete characterization of these Hb variants is essential for generating a rational strategy to control the haemoglobinopathies in this region.


Assuntos
Hemoglobinopatias/epidemiologia , Hemoglobinopatias/genética , Hemoglobinas Anormais/genética , Epidemiologia Molecular , Adolescente , Adulto , Criança , Pré-Escolar , China/epidemiologia , Biologia Computacional , Feminino , Genótipo , Hemoglobinopatias/sangue , Hemoglobinas Anormais/ultraestrutura , Heterozigoto , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Mutação , Adulto Jovem , alfa-Globinas/genética , Talassemia alfa/sangue , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Globinas beta/genética , Talassemia beta/sangue , Talassemia beta/genética , Talassemia beta/patologia , Globinas delta/genética
15.
Elife ; 82019 05 23.
Artigo em Inglês | MEDLINE | ID: mdl-31120421

RESUMO

Severe forms of α-thalassaemia, haemoglobin H disease and haemoglobin Bart's hydrops fetalis, are an important public health concern in Southeast Asia. Yet information on the prevalence, genetic diversity and health burden of α-thalassaemia in the region remains limited. We compiled a geodatabase of α-thalassaemia prevalence and genetic diversity surveys and, using geostatistical modelling methods, generated the first continuous maps of α-thalassaemia mutations in Thailand and sub-national estimates of the number of newborns with severe forms in 2020. We also summarised the current evidence-base for α-thalassaemia prevalence and diversity for the region. We estimate that 3595 (95% credible interval 1,717-6,199) newborns will be born with severe α-thalassaemia in Thailand in 2020, which is considerably higher than previous estimates. Accurate, fine-scale epidemiological data are necessary to guide sustainable national and regional health policies for α-thalassaemia management. Our maps and newborn estimates are an important first step towards this aim. Editorial note: This article has been through an editorial process in which the authors decide how to respond to the issues raised during peer review. The Reviewing Editor's assessment is that all the issues have been addressed (see decision letter).


Assuntos
Efeitos Psicossociais da Doença , Topografia Médica , Talassemia alfa/epidemiologia , Variação Genética , Hemoglobinas/genética , Humanos , Mutação , Prevalência , Tailândia/epidemiologia
16.
Pediatr Blood Cancer ; 66(8): e27807, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31094093

RESUMO

BACKGROUND: The Uganda Sickle Surveillance Study provided evidence for a large sickle burden among HIV-exposed infants in Uganda. To date, however, no large scale screening program has been developed for Central or East Africa. METHODS: A 3-year targeted sickle cell screening project in Uganda was designed by the Ministry of Health to (1) determine sickle cell trait and disease prevalence within high-burden districts, (2) document the prevalence among HIV-exposed and nonexposed children, (3) confirm previously suggested HIV comorbidity, and (4) estimate the co-inheritance of known genetic modifiers of sickle cell disease. RESULTS: A total of 163 334 dried blood spot samples collected between April 2015 and March 2018 were analyzed, including 112 352 samples within the HIV Early Infant Diagnosis program. A high burden with >1% sickle cell disease was found within targeted East Central and Mid-Northern districts, in both HIV-exposed and nonexposed children. Based on crude birth-rate data, 236 905 sickle cell trait births and 16 695 sickle cell disease births will occur annually in Uganda. Compared to sickle cell disease without HIV, the odds ratio of having sickle cell disease plus HIV was 0.50 (95% confidence interval = 0.40-0.64, P < .0001). Alpha-thalassemia trait and G6PD deficiency were common with sickle cell disease, but with different geospatial distribution. CONCLUSIONS: High sickle cell burden and potential HIV comorbidity are confirmed in Uganda. Genetic modifiers are common and likely influence laboratory and clinical phenotypes. These prospective data document that targeted sickle cell screening is feasible and effective in Uganda, and support development of district-level comprehensive care programs.


Assuntos
Anemia Falciforme/diagnóstico , Genes Modificadores , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Infecções por HIV/diagnóstico , Programas de Rastreamento/métodos , Talassemia alfa/diagnóstico , Anemia Falciforme/complicações , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Pré-Escolar , Comorbidade , Feminino , Seguimentos , Deficiência de Glucosefosfato Desidrogenase/complicações , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/genética , HIV/genética , HIV/isolamento & purificação , Infecções por HIV/complicações , Infecções por HIV/epidemiologia , Infecções por HIV/genética , Humanos , Lactente , Recém-Nascido , Masculino , Prevalência , Prognóstico , Estudos Prospectivos , Talassemia alfa/complicações , Talassemia alfa/epidemiologia , Talassemia alfa/genética
17.
Biomed Res Int ; 2019: 2080352, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31001551

RESUMO

Unlike the other hemoglobinopathies, few researches have been published concerning α-thalassemia in Morocco. The epidemiological features and the mutation spectrum of this disease are still unknown. This regional newborn screening is the first to study α-thalassemia in the north of Morocco. During the period from January 2015 to December 2016, 1658 newborns umbilical blood samples were investigated. Suspected newborns were screened for α-globin defects using Gap-PCR and Multiplex Ligation-dependent Probe Amplification technique. The prevalence of α-thalassemia, its mutation spectrum, and its allelic frequencies were described for the first time in Morocco. Six different α-globin genetic disorders were detected in 16 neonates. This screening valued the prevalence of α-thalassemia in the studied population at 0.96% and showed the wide mutation spectrum and the heterogeneous geographical distribution of the disease. A high rate of carriers was observed in Laouamra, a rural commune in Larache province. Heterogeneity of α-globin alleles in Morocco explains the high variability of α-thalassemia severity. This diversity reflects the anthropological history of the country. These results would contribute to the prevention of thalassemia in Morocco directing the design of a nationwide screening strategy and awareness campaign.


Assuntos
Alelos , Frequência do Gene , Mutação , alfa-Globinas/genética , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Feminino , Humanos , Recém-Nascido , Masculino , Marrocos/epidemiologia , Prevalência
18.
Int J Lab Hematol ; 41(3): 397-403, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30830998

RESUMO

INTRODUCTION: The standard screening method for alpha thalassaemia is the examination of HbH preparation. It is labour intensive and poorly standardized. The development of a rapid strip immunochromatographic test (ICT) for haemoglobin Barts offers a fast, user friendly and cost-effective alternative screening tool. METHOD: A total of 180 subjects with results of the thalassaemia screen and genetic testing were included. Results of the ICT and HbH preparation were correlated with genetic results to determine the performance characteristics of the tests and the effect of mean sample age on results. RESULTS: Of 180 subjects, 111 carried alpha thalassaemia mutations and 69 participants had normal genetic results. The ICT had a sensitivity of 63.06% for all alpha gene mutations and 100% for both heterozygous alpha0 and HbH disease, with a specificity of 91.30%. Examination of HbH preparation had a sensitivity of 34.23% overall, detecting 89% of heterozygous alpha0 and 100% of HbH disease with a specificity of 98.55%. Sample age did not affect overall results. CONCLUSIONS: The ICT is a sensitive screening method for significant alpha mutations and detects the majority of homozygous alpha+ and nondeletional mutations. It demonstrates greater correlation with genetic testing than HbH preparation and could replace HbH preparation in the screening algorithm for alpha thalassaemia.


Assuntos
Imuno-Histoquímica/métodos , Talassemia alfa/diagnóstico , Alelos , Estudos Transversais , Grupos Étnicos , Genótipo , Humanos , Programas de Rastreamento , Mutação , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Análise de Sequência de DNA , alfa-Globinas/genética , Talassemia alfa/sangue , Talassemia alfa/epidemiologia , Talassemia alfa/genética
19.
Sci Rep ; 9(1): 3493, 2019 03 05.
Artigo em Inglês | MEDLINE | ID: mdl-30837609

RESUMO

Thalassemia and hemoglobinopathy are two common inherited disorders, which are highly prevalent in southern China. However, there is little knowledge on the genotypes of thalassemia and hemoglobinopathy in Southeastern China. In this study, we present a large-scale genetic detection and molecular characterization of thalassemia and hemoglobinopathy in Fujian province, Southeastern China. A total of 189414 subjects screened for thalassemia were recruited, and the hemoglobin components and levels were investigated. Furthermore, suspected common thalassemia was identified, and the suspected rare forms of common thalassemias and hemoglobinopathy were detected. Among the total subjects screened, the overall prevalence of thalassemia and hemoglobinopathy was 6.8% and 0.26%, and rare α-thalassemia genotypes HKαα, -THAI/αα and -α27.6/αα, and novel ß-thalassemia gene mutations CD90(G → T) and IVS-I-110(G > A) were identified. Additionally, Hb Q-Thailand hemoglobinopathy and five other types of hemoglobinopathies (Hb New York, Hb J-Bangkok, Hb G-Taipei, Hb G-Coushatta and Hb Maputo) were found. The results of this 10-year large-scale study demonstrate high prevalence of thalassemia with complicated gene mutations in Southeastern China, which provides valuable baseline data for genetic counseling and prenatal diagnosis. In addition to detection of common thalassemia genes, detection of rare thalassemia genotypes and hemoglobinopathies is recommended.


Assuntos
Hemoglobinopatias/patologia , Hemoglobinas Anormais/genética , Talassemia alfa/patologia , Talassemia beta/patologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , China/epidemiologia , Feminino , Genótipo , Hemoglobinopatias/genética , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Prevalência , Antígenos Thy-1/genética , Adulto Jovem , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Talassemia beta/epidemiologia , Talassemia beta/genética
20.
BMC Res Notes ; 12(1): 134, 2019 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-30867026

RESUMO

OBJECTIVE: The alpha-thalassaemia trait has been associated with protection against severe malaria but its role in Plasmodium falciparum asexual parasite and gametocyte carriage remains unclear. This study examined association between prevalence of α-thalassaemia and P. falciparum asexual stage parasitaemia and gametocytaemia in children, pregnant women and adults, which was part of a bigger study that investigated some key factors that influence gametocyte carriage. RESULTS: Overall prevalence of heterozygous α-thalassaemia trait among all the groups was 39.0%, while 8.2% were homozygous alpha thalassaemia. Asexual parasite prevalence was significantly higher in children (P = 0.008) compared to adults and pregnant women. Of the asexual P. falciparum positive individuals, gametocyte prevalence was 38.5% (15/39) in children, 29.7% (11/37) in pregnant women and 17.4% (4/23) in adults. Heterozygous α-thalassaemic children were less likely to harbour asexual parasites, compared with normal and those deficient (OR = 0.52; 95% CI 0.28-0.97; P = 0.037) under the dominant model. These heterozygous children were also associated with reduced risk of parasitaemia compared to heterozygous adults and pregnant women. Children with heterozygous α-thalassaemia trait had reduced risk of asexual parasite carriage. There was however, no association between α-thalassaemia trait and risk of gametocyte carriage.


Assuntos
Portador Sadio , Malária Falciparum , Parasitemia , Plasmodium falciparum , Complicações Infecciosas na Gravidez , Talassemia alfa , Adolescente , Adulto , Idoso , Portador Sadio/epidemiologia , Portador Sadio/parasitologia , Criança , Pré-Escolar , Feminino , Células Germinativas , Gana/epidemiologia , Humanos , Malária Falciparum/epidemiologia , Malária Falciparum/parasitologia , Masculino , Pessoa de Meia-Idade , Parasitemia/epidemiologia , Parasitemia/parasitologia , Plasmodium falciparum/isolamento & purificação , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Complicações Infecciosas na Gravidez/parasitologia , Prevalência , Reprodução Assexuada , Adulto Jovem , Talassemia alfa/epidemiologia , Talassemia alfa/genética
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