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1.
Rev Assoc Med Bras (1992) ; 66(9): 1277-1282, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33027458

RESUMO

INTRODUCTION: Microcytic anemias are very common in clinical practice, with iron deficiency anemia (IDA) and thalassemia minor (TT) being the most prevalent. Diagnostic confirmation of these clinical entities requires tests involving iron metabolism profile, hemoglobin electrophoresis, and molecular analysis. In this context, several discriminant indices have been proposed to simplify the differential diagnosis between IDA and TM. OBJECTIVE: The aim of this paper was to demonstrate the clinical relevance of the use of discriminant indices in individuals with microcytic anemia to simplify the differential diagnosis between iron deficiency anemia and minor thalassemia. METHODS: A bibliographic and cross-sectional search was performed in the PubMed, SciELO and LILACS databases, using the following descriptors: iron deficiency anemia, thalassemia minor, and differential diagnosis. RESULTS: More than 40 mathematical indices based on erythrocyte parameters have been proposed in the hematological literature in individuals with microcytosis. Green & King indexes (IGK), Ehsani index, and erythrocyte count (RBC) had excellent performances, especially when their efficacy was observed in adults and children. CONCLUSIONS: Confirmatory tests for differential diagnosis between IDA and TM require time-consuming and costly methods. Despite the excellent performances of IGK, Ehsani index, and RBC, none of them presented sufficient sensitivity and specificity to establish a diagnosis. However, they can provide a powerful additional tool for diagnostic simplification between IDA and TM.


Assuntos
Anemia Ferropriva , Talassemia beta , Anemia Ferropriva/diagnóstico , Estudos Transversais , Diagnóstico Diferencial , Índices de Eritrócitos , Humanos , Talassemia beta/diagnóstico
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(10): 1101-1103, 2020 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-32924110

RESUMO

OBJECTIVE: To study the distribution of α- and ß -thalassemia-related mutations in Pingxiang area of Jiangxi Province, China. METHODS: PCR and reverse dot blotting (PCR-RDB) were carried out to detect common mutations of α and ß globin genes among 2558 individuals with positive results of primary screening. RESULTS: The PCR-RDB assay has identified 1222 carriers of thalassemia-related mutations, which yielded a detection rate of 47.8%. Among these, 645 individuals (including homozygous patients) have carried α globin gene mutations, with the common types including -αSEA/αα, -α3.7/αα and -α4.2/αα. 539 individuals have carried ß globin gene mutations, with the common types including IVS-Ⅱ-654, CD41-42, CD17, CD28, CD27-28, ßE, and CD71-72. Thirty eight individuals (1.5%) have carried α and ß globin gene mutations simultaneously. CONCLUSION: The carrier rate for α and ß globin gene mutations in Jiangxi is high. Attention should be paid to newborn screening as part of the birth defect prevention and control program in order to reduce the birth rate of thalassemia in this region.


Assuntos
Talassemia alfa , Talassemia beta , China , Genética Populacional , Genótipo , Heterozigoto , Humanos , Recém-Nascido , Mutação , Talassemia alfa/genética , Talassemia beta/genética
3.
Acta Biomed ; 91(3): e2020007, 2020 09 07.
Artigo em Inglês | MEDLINE | ID: mdl-32921705

RESUMO

BACKGROUND: Coronavirus disease 2019 (COVID-19) outbreak is a global and challenging disease that is accompany with mortality and morbidity. AIM OF STUDY: We evaluated the prevalence and the impact of comorbidities in thalassemia Iranian patients affected by COVID-19.  Methods: A multicenter, retrospective, cross-sectional study was conducted across all comprehensive thalassemia centers in Iran, from January to June 15th, 2020. RESULTS: Forty-three confirmed COVID-19 thalassemia patients (32 TDT, and 11 NTDT) were detected. The mean age of patients was 35.3 ± 11.5 years (range 9 - 67); 21 females and 22 males. Overall, 78.1% of TDT and 90.9% of NTDT patients were complicated with at least one comorbidity (P: 0.656). The overall mortality rate of thalassemia patients with COVID-19 was 18.6% while 27.3% was in NTDT patients compared to 15.6% in TDT patients (P:0.401). The dead group had a non-significant higher frequency of endocrinopathies compared to the recovered group (62.5% versus 45.7% P:0.457). Ten female thalassemia patients with positive COVID-19 had hypogonadism, six patients were receiving hormone replacement therapy and all of them recovered (zero death) compared to two deaths from 4 patients who were not receiving hormone replacement therapy (P:0.133). Furthermore, the prevalence of COVID-19 in NTDT patients was significantly higher than the general population (45 per 10,000 versus 22.29 per 10,000 respectively, P:0.018) while the prevalence of TDT was almost similar to the normal population (P:0.539). The mortality rate of COVID-19 was 4.71% in the normal Iranian population compared to 18.6% in ß-thalassemias (P: <0.001) at the same date. CONCLUSIONS: It is important to acknowledge that ß-thalassemia patients, especially young adults/adults, have a chronic condition which may contribute to increase susceptibility to SARS-CoV-2 infection. A higher susceptibility to the infection was observed in patients with NTDT and in untreated hypogonadal female thalassemic patients. However, to confirm these data, more accurate designed studies are needed.


Assuntos
Betacoronavirus , Transfusão de Sangue , Infecções por Coronavirus/epidemiologia , Transmissão de Doença Infecciosa/prevenção & controle , Pneumonia Viral/epidemiologia , Vigilância da População , Talassemia beta/epidemiologia , Adolescente , Adulto , Idoso , Criança , Comorbidade , Infecções por Coronavirus/transmissão , Estudos Transversais , Feminino , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Pessoa de Meia-Idade , Pandemias , Pneumonia Viral/transmissão , Prevalência , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida/tendências , Adulto Jovem , Talassemia beta/terapia
4.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 28(4): 1303-1306, 2020 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-32798416

RESUMO

OBJECTIVE: To analyze the genotype of pregnant women with α- and ß- thalassemia in Fuzhou area of Fujian province in China. METHODS: Blood routine examination and hemoglobin electrophoresis were performed for pregnant women, and positive samples were examined by gap polymerase chain reaction and reverse dot blot hybridization. RESULTS: 412 cases were diagnosed as α-thalassemia (63.9%); 201 cases were diagnosed as ß-thalassemia (31.2%); 32 cases were diagnosed as α and ß-composite thalassemia. There were 12 genotypes in α-thalassemia, whose major genotypes were --SEA/αα, α3.7/αα, -α4.2/αα and αQSα/αα, with carrying rate of 64.32%, 20.14%, 7.77% and 1.94%, respectively. There were 10 genotypes in ß- thalassemia, whose major genotypes were CD41-42/N, CD17/N, IVS-II-654/N and -28/N, with carrying rate of 30.84%, 27.86%, 15.92% and 10.45%, respectively. There were 9 genotypes in α and ß-composite thalassemia, whose major genotypes were --SEA/αα composited CD41-42/N, -α3.7/αα composited CD41-42/N, --SEA/αα composited CD17/N, with carrying rate of 18.75%, 15.62%, 15.62% respectively. CONCLUSION: The major genotypes of pregnant women with α- and ß- thalassemia in Fuzhou area of Fujian province in China are --SEA/αα, α3.7/αα, CD41-42/N and CD17/N. Thalassemia screening and prenatal gene diagnosis should be strengthened in Fuzhou area of Fujian province in China.


Assuntos
Talassemia alfa , Talassemia beta , China , Feminino , Genótipo , Humanos , Mutação , Gravidez
5.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 28(4): 1312-1315, 2020 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-32798418

RESUMO

OBJECTIVE: To investigate the influence of iron deficiency on the index of thalassemia screening. METHODS: 876 blood samples of the couples at childbearing age, who underwent red blood cell analysis, hemoglobin electrophoresis, ferritin and gene diagnosis were selected. The samples were divided into normal, iron deficiency, αthalassemia, α-thalassemia combining with iron deficiency, ß-thalassemia and ß-thalassemia combining with iron deficiency group. The differences of hematology index and hemolobin value A2 between each groups were analyzed. RESULTS: The value of Hb, MCV, MCH, MCHC in iron deficiency, αthalassemia, α-thalassemia combining with iron deficiency, ß-thalassemia and ß-thalassemia combining with iron deficiency group all were lower than that of normal group, while the value of RDW-CV was higher, in which the difference between ß-thalassemia was the highest. The distribution of HbA2 among each groups was not significantly different expect of ß-thalassemia. There was no significant correlation between HbA2 and ferritin level. CONCLUSION: RDW-CV increases in both iron deficiency and thalassemia. Iron deficiency has no significant effect on the level of hemoglobin A2.


Assuntos
Anemia Ferropriva , Talassemia beta , Índices de Eritrócitos , Ferritinas , Hemoglobina A2/análise , Humanos
6.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 28(4): 1424-1428, 2020 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-32798438

RESUMO

ß-thalassaemias are inherited hemoglobin disorders caused by defects in the ß-globin gene. In recent years, researches have re-mentioned the therapeutic significance of drug-induced fetal hemoglobin (HbF), which can reduce the imbalance of α and ß chains and improve the severity of anemia by increasing the expression of γ chain. Drug trials, such as hydroxyurea, thalidomide and desitabine have shown elevated hemoglobin, decreased blood transfusion dependence, and reduced symptoms other than anemia after treatment. In addition, in vitro experiments suggested that HbF can also induce by other drugs, which providing important clues for safe and effective HbF inducers. Therefore, this article reviews the current research progress so as to expect beneficial to clinical treatment.


Assuntos
Hemoglobina Fetal , Talassemia beta , Transfusão de Sangue , Humanos , Hidroxiureia , Globinas beta
7.
Ann Hematol ; 99(10): 2265-2277, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32803313

RESUMO

ß-Thalassemia is an inherited single gene disorder related to reduced synthesis of the ß-globin chain of hemoglobin. Patients with ß-thalassemia present variable clinical severity ranging from asymptomatic trait to severe transfusion-dependent anemia and multiple organs complications. Moreover, multiple immune abnormalities are a major concern in ß-thalassemia patients. Aberrant neutrophil effector function plays a pivotal role in infection susceptibility in these patients. In severe and persistent inflammation, immature neutrophils are released from the bone marrow and are functionally different compared with mature ones. Despite some abnormalities reported for thalassemia patient's immune system, few data exist on the characterization of human neutrophils in ß-thalassemia. The aim of this study was to investigate the phenotype and function of circulating neutrophil subsets in patients with ß-thalassemia major and with ß-thalassemia intermedia divided in transfusion-dependent and non-transfusion-dependent. By the use of immunochemical and cytofluorimetric analyses, we observed that patients' CD16+ neutrophils exhibit abnormalities in their phenotype and functions and the abnormalities vary according to the clinical form of the disease and to the neutrophil subset (CD16bright and CD16dim). Abnormalities include altered surface expression of the innate immune receptor CD45, Toll-like receptor 4, and CD32, reduced ability to produce an oxidative burst, and elevated levels of membrane lipid peroxidation, especially in patients with a more severe form of the disease. Overall, our results indicating the occurrence of an immuno-senescent phenotype on circulating neutrophils from thalassemia patients suggest the usefulness of neutrophil feature assessment as a tool for better clinical management of ß-thalassemia.


Assuntos
Neutrófilos/imunologia , Talassemia beta/sangue , Adulto , Antígenos CD/sangue , Transfusão de Componentes Sanguíneos , Senescência Celular , Terapia por Quelação , Feminino , Ferritinas/sangue , Humanos , Imunofenotipagem , Quelantes de Ferro/uso terapêutico , Contagem de Leucócitos , Peroxidação de Lipídeos , Masculino , Pessoa de Meia-Idade , Ativação de Neutrófilo , Neutrófilos/química , Neutrófilos/classificação , Explosão Respiratória , Esplenectomia , Receptor 4 Toll-Like/sangue , Adulto Jovem , Talassemia beta/imunologia , Talassemia beta/terapia
8.
Ann Hematol ; 99(9): 2019-2026, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32676731

RESUMO

Hyperbilirubinemia and pigment gallstones are frequent complications in transfusion-dependent ß-thalassemia (TDßT) patients. Bilirubin production and clearance are determined by genetic as well as environmental variables like ineffective erythropoiesis, hemolysis, infection-induced hepatic injury, and drug- or iron-related toxicities. We studied the frequency of the Gilbert syndrome (GS), a common hereditary cause of hyperbilirubinemia in 102 TDßT patients aged 13-43 years (median 26 years). Total and unconjugated hyperbilirubinemia were frequent (81.4% and 84.3% patients respectively). Twenty (19.6%) patients showed total bilirubin > 3.0 mg/dL; 53 (51.9%) had an elevation of either alanine or aspartate aminotransferase, or alkaline phosphatase liver enzymes. Nineteen (18.6% of the 92 tested) were positive for hepatitis B or C, or HIV. The mean total and unconjugated bilirubin levels and AST, ALT, and ALP levels in patients positive for hepatitis B or C were not significantly different from negative cases. Eighteen patients (17.7%) had GS: homozygous (TA)7/7 UGT1A1 promoter motif (the *28/*28 genotype), 48 (47.1%) were heterozygous (TA)6/7. Total + unconjugated bilirubin rose significantly with the (TA)7 allele dose. Fourteen (13.7%) patients had gallstones. There was no significant difference in total/unconjugated bilirubin in patients with/without gallstones and no significant differences in frequencies of gallstones within the three UGT1A1 genotypes. This largest study in Indian TDßT patients suggests that GS should be excluded in TDßT cases where jaundice remains unexplained after treatable causes like infections, chelator toxicity, or transfusion-related hemolysis are excluded. GS was not associated with gallstones, possibly due to a lower incidence of cholelithiasis overall, a younger age cohort, or other environmental factors.


Assuntos
Grupo com Ancestrais do Continente Asiático , Colelitíase/epidemiologia , Doença de Gilbert/epidemiologia , Glucuronosiltransferase , Hiperbilirrubinemia/epidemiologia , Talassemia beta/epidemiologia , Adolescente , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Transfusão de Sangue/tendências , Colelitíase/genética , Feminino , Doença de Gilbert/genética , Glucuronosiltransferase/genética , Humanos , Hiperbilirrubinemia/genética , Índia/epidemiologia , Masculino , Estudos Prospectivos , Adulto Jovem , Talassemia beta/genética , Talassemia beta/terapia
9.
Medicine (Baltimore) ; 99(28): e20949, 2020 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-32664096

RESUMO

OBJECTIVES: Thalassemia is a hereditary disease, which caused economic burden in developing countries. This study evaluated the cost utility of new formulation of deferasirox (Jadenu) vs deferoxamine (Desferal) among B-Thalassemia-major patients from payer perspective in Iran. METHODS: An economic-evaluation through Markov model was performed. A systematic review was conducted in order to evaluate the clinical effectiveness of comparators. Because of chelating therapy is weight-dependent, patients were assumed to be 2 years-old at initiation in first and 18 years-old in second scenario, and model was estimated lifetime costs and utilities. Costs were calculated to the Iran healthcare system through payer perspective and measured effectiveness using quality-adjusted life years (QALYs). One-way sensitivity analysis and budget impact analysis was also employed. RESULTS: The 381 studies were retrieved from systematic searching through databases. After eliminating duplicate and irrelevant studies, 2 studies selected for evaluating the effectiveness. Jadenu was associated with an incremental cost-effectiveness ratio (ICER) of 1470.6 and 2544.7 US$ vs Desferal in first and second scenario respectively. The estimated ICER for Jadenu compared to generic deferoxamine was 2837.0 and 6924.1 US$ for first and second scenario respectively. For all scenarios Jadenu is presumed as cost-effective option based on calculated ICER which was lower than 1 gross domestic product per capita in Iran. Sensitivity analysis showed that different parameters except discount rate and indirect cost did not have impact on results. Based on budget impact analysis the estimated cost for patients using Desferal (based on the market share of brand) was 44,021,478 US$ in 3 years vs 42,452,606 US$ in replacing 33% of brand market share with Jadenu. This replacement corresponded to the cost saving of almost 1,568,872 US$ for the payers in 3 years. The calculated cost of using generic deferoxamine in all patients was 68,948,392 US$. The increase in the cost of using Jadenu for 10% of all patients in this scenario would be 934,427 US$ (1.36%) US$ at the first year. CONCLUSIONS: Based on this analysis, film-coated deferasirox appeared to be cost-effective treatment in comparison with Desferal for managing child and adult chronic iron overload in B-thalassemia major patients of Iran.


Assuntos
Análise Custo-Benefício , Deferasirox/administração & dosagem , Deferasirox/economia , Desferroxamina/administração & dosagem , Desferroxamina/economia , Quelantes de Ferro/administração & dosagem , Talassemia beta/tratamento farmacológico , Humanos , Irã (Geográfico) , Comprimidos/economia
11.
Drugs Today (Barc) ; 56(7): 447-458, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32648855

RESUMO

Recently, after years of research often characterized by disappointments and frustrations, finally a new drug impacting on pathological human erythropoiesis has been developed and approved. This drug, luspatercept-aamt (Reblozyl), proved to be effective in both malignant and nonmalignant disease characterized by ineffective erythropoiesis with consequent life-threatening severe anemia. Moreover, for the first time, a medication demonstrated efficacy and effectiveness in ß-thalassemia where no other drug, including recombinant human erythropoietin, showed effectiveness in improving anemia. Despite recent impressive advances in understanding human normal and abnormal erythropoiesis, there are few new drugs and limited pharma research focusing on ineffective erythropoiesis. This review will discuss recent advances in understanding normal and pathological erythropoiesis that represent the background to discuss pharmacology, toxicology, efficacy, safety and effectiveness of this new drug for the treatment of human ß-thalassemia.


Assuntos
Receptores de Activinas Tipo II , Fragmentos Fc das Imunoglobulinas , Proteínas Recombinantes de Fusão , Talassemia beta , Receptores de Activinas Tipo II/uso terapêutico , Ativinas , Humanos , Fragmentos Fc das Imunoglobulinas/uso terapêutico , Proteínas Recombinantes de Fusão/uso terapêutico , Talassemia beta/tratamento farmacológico
12.
J Pediatr Orthop ; 40(6): e473-e478, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32501918

RESUMO

BACKGROUND: Arthropathies and bone deformities are well known to occur in patients with thalassemia major and have been attributed to the disease or to its therapy. Before the advent of chelation therapy, these children developed widened diploic space and "hair-on-end" pattern in skull, "cobweb" pattern in the pelvis, and the lack of the normal concave outline in the long bones because of extensive marrow proliferation. After the introduction of iron-chelation therapy, these patients were noted to develop metaphyseal abnormalities and vertebral changes resembling spondylo-metaphyseal dysplasia. Only one study has shown some association of deferiprone (chelating agent) use with distal ulnar changes in these children. Our study was done to describe the skeletal changes and deformities in wrist joints of children with transfusion-dependent thalassemia and correlate them with age, mean pretransfusion hemoglobin level, mean serum ferritin level, and type and duration of chelation therapy in these children. METHODS: A total of 60 children with transfusion-dependent thalassemia from the thalassemia daycare center were examined. These children were divided into 3 groups on the basis of their age (group A: 2 to 6 y, group B: 6 to 10 y, and group C: 10 to 14 y). Detailed history, including treatment history, number of blood transfusions received over the last 1 year, clinical examination, and radiologic assessment of both forearm with wrists were done. RESULTS: The clinical and radiologic differences in radial and ulnar lengths increased significantly with the increasing age of these patients, the ulna being short. There was some correlation between increasing negative ulnar variance and distal radial articular angle with deferiprone consumption. CONCLUSION: Chelation therapy, particularly with deferiprone, may cause distal ulnar growth arrest causing ulnar shortening and progressive radial bowing in these children. LEVEL OF EVIDENCE: Level IV-case series.


Assuntos
Terapia por Quelação/efeitos adversos , Deferiprona/efeitos adversos , Quelantes de Ferro/efeitos adversos , Articulação do Punho/efeitos dos fármacos , Talassemia beta/tratamento farmacológico , Adolescente , Transfusão de Sangue , Criança , Pré-Escolar , Feminino , Antebraço/diagnóstico por imagem , Humanos , Artropatias/etiologia , Masculino , Radiografia , Rádio (Anatomia)/diagnóstico por imagem , Rádio (Anatomia)/efeitos dos fármacos , Ulna/diagnóstico por imagem , Ulna/efeitos dos fármacos , Punho/diagnóstico por imagem , Articulação do Punho/diagnóstico por imagem
13.
J Evid Based Dent Pract ; 20(2): 101412, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32473800

RESUMO

ARTICLE TITLE AND BIBLIOGRAPHIC INFORMATION: Periodontal condition of patients with thalassemia major: A systematic review and meta-analysis. Akcali A, Yildiz MS, Akcali Z, Huck O, Friedmann A. Arch Oral Biol 2019;102:113-21. SOURCE OF FUNDING: Information is not available and the authors state that no specific funding was available for this study. TYPE OF STUDY/DESIGN: Systematic review with meta-analysis of data.


Assuntos
Doenças Periodontais , Talassemia beta , Humanos , Inflamação
15.
Ann Hematol ; 99(7): 1475-1483, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32524201

RESUMO

Large deletions in the ß-globin gene cluster lead to increased HbF levels by delaying the γ- to ß-globin switch process. However, these deletions when inherited as a homozygous condition or when co-inherited with ß-thalassemia result in variable clinical phenotypes. Individuals or families with a clinically presenting child, where the parents had HbF levels ≥ 10%, were further screened for the presence of large ß-globin cluster deletions. Six deletions in the ß-globin gene cluster were screened by GAP-PCR, and the uncharacterized deletions were further analyzed by gene dosage or by multiplex ligation-dependent probe amplification (MLPA). Among 192 individuals suspected for the inheritance of large deletions, 138 were heterozygous for large deletions, 45 were compound heterozygous of a large ß-globin cluster deletion and ß-thalassemia, and 9 were found to be homozygous for deletions. Among the heterozygotes, the Asian Indian inversion-deletion was found to be the most common deletion (39.9%), followed by the HPFH-3 deletion (30.0%). Other deletions 49.3 kb, δß-thalassemia (21.2%), and 32.6 kb deletion (4.4%) were also found to be prevalent in our population. Patients compound heterozygous or homozygous for HPFH-3 and 32.6 kb deletions showed a milder clinical presentation, as compared with the patients compound heterozygous or homozygous for the Asian Indian inversion-deletion and 49.3 kb δß-thalassemia. This comprehensive study highlights the mutation spectrum of large ß-globin cluster deletions and the clinical heterogeneity in the patients homozygous or compound heterozygous with ß-thalassemia, thus asserting the need for molecular characterization of these deletions.


Assuntos
Hemoglobina Fetal/genética , Estudos de Associação Genética , Heterogeneidade Genética , Talassemia beta/epidemiologia , Talassemia beta/genética , Talassemia delta/epidemiologia , Talassemia delta/genética , Idade de Início , Criança , Mortalidade da Criança , Pré-Escolar , Feminino , Hemoglobina Fetal/análise , Estudos de Associação Genética/estatística & dados numéricos , Humanos , Índia/epidemiologia , Lactente , Padrões de Herança/genética , Masculino , Talassemia beta/sangue , Talassemia beta/mortalidade , Talassemia delta/sangue , Talassemia delta/mortalidade
17.
Health Qual Life Outcomes ; 18(1): 180, 2020 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-32532297

RESUMO

BACKGROUND: Beta Thalassaemia Major (ßTM) is a chronic genetic illness whereby the challenges faced by patients exposes them to increased risk of psychosocial issues. Despite this, a disease-specific tool to measure the impact of this illness on adult patients has yet to be developed. METHODS: In collaboration with ßTM adult patients, this study aimed to develop a comprehensive, disease-specific, easy to use psychometrically sound tool to measure the impact of chelation and transfusion dependent ßTM in a cross-cultural patient group in England.The Thalassaemia Life Index (ThALI) was developed in two stages - item generation and pre-testing and item reduction - in collaboration with service users. Recruited adult patients shaped the design of the instrument including its statements and subscales. Standard item reduction techniques were used to develop the instrument. RESULTS: The final version of the ThALI encompasses 35 statements and five sub-scales - general physical health, coping, body image, appearance and confidence, social relationships and autonomy. This endorses the multidimensionality of quality of life (QoL). The factor structure of the ThALI is highly stable and its internal consistency is high (alpha = 0.87 for the overall scale; 0.83-0.94 for its subscales). The ThALI has sound scaling assumptions, acceptability and score variability. Content validity was confirmed by experts and service user interviewees. The loadings for the items retained were adequate and the item discriminant validity sound. CONCLUSIONS: The ThALI covers the impact of ßTM in adult patients. Preliminary testing shows its multidimensionality to be reliable and valid. The national authentication of the tool with patients treated in Centres of Excellence will aim to provide further evidence regarding the ThALI's psychometric properties. Once authenticated, the ThALI may be utilised in research and in clinical settings to assess the effects of new therapies and/or interventions from the patients' perspective to inform practice and/or to identify areas of concern.


Assuntos
Qualidade de Vida , Inquéritos e Questionários/normas , Talassemia beta/psicologia , Adulto , Inglaterra , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Psicometria/instrumentação , Reprodutibilidade dos Testes
18.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 28(3): 918-926, 2020 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-32552958

RESUMO

OBJECTIVE: To investigation the types and frequencies of thalassemia gene mutations in pregnant population in Nanping area of Fujian Province, so as to provide a basis for prevention and control of birth children with moderate and severe thalassaemia in this area. METHODS: The genotyping of α and ß thalassemia was performed using the gap-PCR (gap-PCR) technique combined with reverse dot blot (RDB). The genotyping test was performed by Gap-PCR for three rare deficient thalassemia. The cases with negative detection were further detected by Sanger sequencing method, so as to identify rare α or ß thalassemia mutation. RESULTS: 1120 specimens were genotyped for thalassemia, out of them 547 thalassemia genes were determined. The detection rate was 48.8% (547/1120). 340 specimens were diagnosed as α thalassemia, and the detection rate was 30.6%, including 266 cases of --SEA/αα, 44 cases of -α3.7/αα, 12 cases of -α4.2/αα, 8 cases of ααQS/αα,. 3 cases of Hb H disease ( 2 cases of --SEA/-α3.7, 1 case of --SEA/-α4.2), 2 cases of ααCS/αα, 2 cases of ααWS/αα, 1 case of -α3.7/-α3.7, and 1 case of -α3.7/ααQS. Also, they contain 11 cases of rare α thalassemia, 8 kinds of rare types of α thalassemia mutations in combination, such as 4 cases of ααIVS-II-55 (T→G) in α1/αα, 1 case of ααIVS-I-62 (C→T) in α1/αα, 1 case of ααCD106(CTG→GTG)in α2/αα, 1 case of ααHBA2:c.-24C>G/αα, 1 case of ααIVS-II-55 (T→G) in α1/ααIVS-II-55 (T→G) in α1, 1 case of ααIVS-II-55 (T→G) in α1/ααIVS-II-119 (G;+CTCGGCCC) in α2, 1 case of ααIVS-II-88 (G→A) in α2/αα, and 1 case of --THAI/αα. Among them, 5 α mutation sites were first reported, namely ααIVS-I-62 (C→T) in α1, ααIVS-II-55 (T→G) in α1, ααIVS-II-119 (G; +CTCGGCCC ) in α2, ααIVS-II-88 (G→A) in α2 and ααCD106 (CTG→GTG) in α2; 2 α thalassemia mutation sites: ααHBA2: c.-24C>G and --THAI were detected again in the Chinese population, respectively. 188 specimens were diagnosed as ß thalassemia with a detection rate of 16.8%. Among them, 68 cases of ßIVS-II-654/ßN, 47 cases of ßCD41-42/ßN, 20 cases of ßCD17/ßN, 17 cases of ß-28/ßN, 7 cases of ßCD27-28/ßN, 7 cases of ßE/ßN, 3 cases of ßCD71-72/ßN and 2 cases of ßCD43/ßN. And 17 cases were diagnosed as rare ß thalassemia, 8 kinds of rare types were ß thalassemia mutations in combination. There were 4 cases of ßIVS-II-81 (C→T)/ßN, 3 cases of ßHb J-Bangkok/ßN, 3 cases of ßHb New York/ßN, 2 cases of ß-96 (G→T)/ßN, 2 cases of ßIVS-II-806 (G→C)/ßN, 1 case of ßCodons 8/9/ßN, 1 case of ßHb G-Coushatta/ßN, 1 case of ßIVS-II-827 (A→T)/ßN. Among them, 3 ß thalassemia mutation sites were reported for the first time, namely ß-96 (G→T), ßIVS-II-806 (G→C) and ßIVS-II-827 (A→T); it was found that in the Chinese population as ßCodons 8/9, ßHb G-Coushatta, ßHb J-Bangkok, ßHb New York, and ßIVS-II-81 (C→T), respectively. 19 cases were diagnosed as αß-complex thalassemia, out of which 15 types of thalassemia mutation combinations were detected. They contain 2 cases of rare αß-complex thalassemia, which are ααIVS-II-55 (T→G)/αα complex ßIVS-II-81 (C→T)/ßN, ααIVS-II-65 (G→A) in α1/αα complex ßHb G-Coushatta/ßN. CONCLUSION: The types of thalassemia gene mutations in Nanping area of Fujian province are genetically heterogeneous. The prevention and control strategies of thalassaemia in this area should be based on the prevention and treatment of common α thalassemia and ß thalassaemia. And the attention should be paid to the types of rare and unknown gene mutations using screening and testing method.


Assuntos
Talassemia alfa , Talassemia beta , China , Feminino , Genótipo , Humanos , Mutação , Gravidez , Tailândia , Talassemia alfa/genética , Talassemia beta/genética
19.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 28(3): 932-936, 2020 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-32552960

RESUMO

OBJECTIVE: To investigate the prevalence and gene distribution of thalassemia among people at reproductive age in yuzhong district, Chongqing. METHODS: 1000 pre -pregnancy examination couples in yuzhong district were investigated. Peripheral venous blood was extracted and next-generation sequencing was used to screen the thalassemia genes. RESULTS: Among the 1000 pregnant couples, the thalassemia gene carrying rate was 7.45%, the carrying rate of α and ß thalassemia genes were 4.60% and 2.10%, respectively. The most common α thalassemia genotypes in αα/-α3.7 (53.26%), αα/--SEA (23.91%), αα/-α4.2 (11.96%); and the most common genotypes in ß thalassemia genotypes were mainly Codons17 (A>T) (26.19%)、Condon41/42 (-TTCT) (26.19%)、IVS-II-654 (C>T) (14.29%) At the same time, 3 cases of α and ß complex thalassemia and 3 pairs of homotypic thalassemia genes were detected, more over, 12 cases of 5 new genes were found. CONCLUSION: Yuzhong district of Chongqing is a high incidence area of thalassemia, and the diversity of gene mutation types is relatively rich. Screening for thalassemia before pregnancy is of great significance to improve the quality of population.


Assuntos
Talassemia alfa , Talassemia beta , China , Feminino , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mutação , Gravidez , Prevalência
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