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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.
Am J Case Rep ; 21: e925788, 2020 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-32697769

RESUMO

BACKGROUND Beta-hemoglobinopathies and glucose-6-phosphate dehydrogenase (G6PD) deficiency are genetic disorders that cause hemolytic anemia when exposed to oxidative stress. Their co-existence is, however, not proven to enhance the severity of anemia. CASE REPORT We report the case of a young man with no known co-morbidities, who came with fever and cough and was diagnosed with COVID-19 pneumonia. He was found to have hemoglobin D thalassemia and G6PD deficiency during further evaluation. Hydroxychloroquine therapy started initially, was discontinued after 3 doses once the G6PD deficiency was diagnosed. His hospital course showed a mild drop in hemoglobin with evidence of hemolysis on peripheral smear. However, the hemoglobin improved without any need for transfusion. CONCLUSIONS Hydroxychloroquine therapy can induce hemolytic crises in patients with underlying G6PD deficiency or hemoglobinopathies and should be avoided or closely monitored. Immediate intervention to stop hydroxychloroquine after 3 doses saved our patient from a major hemolytic crisis. The significance of this case report is that it is the first report that outlines the clinic course of COVID-19 pneumonia in a patient with underlying hemoglobin D disease and G6PD deficiency.


Assuntos
Betacoronavirus , Infecções por Coronavirus/complicações , Deficiência de Glucosefosfato Desidrogenase/complicações , Hemoglobinas/metabolismo , Pneumonia Viral/complicações , Talassemia/complicações , Doenças Assintomáticas , Infecções por Coronavirus/virologia , Deficiência de Glucosefosfato Desidrogenase/sangue , Humanos , Masculino , Pandemias , Pneumonia Viral/virologia , Talassemia/sangue , Adulto Jovem
3.
Ann Hematol ; 99(9): 1967-1977, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32621178

RESUMO

Thalassemia is characterized by a defect in the synthesis of one or more of the globin subunits of hemoglobin. This defect results in imbalance in the α/ß-globin chain ratio, ineffective erythropoiesis, chronic hemolytic anemia, and iron overload. With advances in diagnosis, treatment, and transfusion support, the prognosis of patients with thalassemia has improved over the past few decades. An increasing number of patients with thalassemia is living with long-term complications, including cardiomyopathy, chronic liver disease, endocrinopathy, and infections. In this paper, we review common complications that bring the patient with thalassemia to urgent or emergent medical attention. We also discuss the aspects of emergency care that are most relevant while caring for the patient with thalassemia in the emergency department.


Assuntos
Serviços Médicos de Emergência/tendências , Serviço Hospitalar de Emergência/tendências , Doenças Raras/diagnóstico por imagem , Doenças Raras/terapia , Talassemia/diagnóstico por imagem , Talassemia/terapia , Betacoronavirus , Transfusão de Sangue/métodos , Transfusão de Sangue/tendências , Cardiomiopatias/diagnóstico por imagem , Cardiomiopatias/epidemiologia , Cardiomiopatias/terapia , Infecções por Coronavirus/diagnóstico por imagem , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/terapia , Diagnóstico Diferencial , Serviços Médicos de Emergência/métodos , Humanos , Hepatopatias/diagnóstico por imagem , Hepatopatias/epidemiologia , Hepatopatias/terapia , Pandemias , Pneumonia Viral/diagnóstico por imagem , Pneumonia Viral/epidemiologia , Pneumonia Viral/terapia , Doenças Raras/epidemiologia , Talassemia/epidemiologia
5.
Acta Biomed ; 91(2): 50-56, 2020 May 11.
Artigo em Inglês | MEDLINE | ID: covidwho-311237

RESUMO

We're all flying blind regarding coronavirus, but it's fair to think if thalassemic patients are particularly vulnerable to SARS-COV-2  infection or are at potential higher risk of complications from COVID-19 than normal population, specially when they become older. The frustrating thing is that, right now,  this virus is still new. It only came to the attention of the World Health Organization at the end of December. Very few cases in thalassemia have so far been reported; is this due to lack of testing or a true lack of infection/susceptibility? However, we believe that more data should be collected to better characterise the impact of SARS-CoV-2 infection in patients with thalassemias. Therefore, a multicenter registry and the collection of comprehensive data from both positive COVID-19 thalassemia major and non-transfusion dependent thalassemia are necessary to clarify debated issues. In the meantime an early and vigilant monitoring along with high quality supportive care are needed in thalassemic patients at high risk for SARS-CoV-2 infection.


Assuntos
Betacoronavirus , Infecções por Coronavirus/complicações , Pneumonia Viral/complicações , Talassemia/complicações , Transfusão de Sangue , Humanos , Pandemias , Fatores de Risco , Esplenectomia
6.
Acta Biomed ; 91(2): 216-217, 2020 05 11.
Artigo em Inglês | MEDLINE | ID: covidwho-299942

RESUMO

For rare haematological diseases (RHD), the first question to be answered is if patients with be- nign red blood cell (RBC) defects like haemoglobinopathies, membranopathies and enzymopathies are more vulnerable to COVID-19 infection. Up to now, there is no yet literature on the subject, but, like in general population, the presence of comorbidities such as diabetes, heart disease, pulmonary hypertension, reduced kidney and/or liver function, worsen the effects of the infection. Splenectomy may be an additional risk factor.


Assuntos
Anemia Falciforme/complicações , Betacoronavirus , Infecções por Coronavirus/complicações , Pneumonia Viral/complicações , Humanos , Pandemias , Sociedades Médicas , Talassemia
7.
Acta Biomed ; 91(2): 50-56, 2020 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-32420925

RESUMO

We're all flying blind regarding coronavirus, but it's fair to think if thalassemic patients are particularly vulnerable to SARS-COV-2  infection or are at potential higher risk of complications from COVID-19 than normal population, specially when they become older. The frustrating thing is that, right now,  this virus is still new. It only came to the attention of the World Health Organization at the end of December. Very few cases in thalassemia have so far been reported; is this due to lack of testing or a true lack of infection/susceptibility? However, we believe that more data should be collected to better characterise the impact of SARS-CoV-2 infection in patients with thalassemias. Therefore, a multicenter registry and the collection of comprehensive data from both positive COVID-19 thalassemia major and non-transfusion dependent thalassemia are necessary to clarify debated issues. In the meantime an early and vigilant monitoring along with high quality supportive care are needed in thalassemic patients at high risk for SARS-CoV-2 infection.


Assuntos
Betacoronavirus , Infecções por Coronavirus/complicações , Pneumonia Viral/complicações , Talassemia/complicações , Transfusão de Sangue , Humanos , Pandemias , Fatores de Risco , Esplenectomia
8.
Acta Biomed ; 91(2): 216-217, 2020 05 11.
Artigo em Inglês | MEDLINE | ID: mdl-32420949

RESUMO

For rare haematological diseases (RHD), the first question to be answered is if patients with be- nign red blood cell (RBC) defects like haemoglobinopathies, membranopathies and enzymopathies are more vulnerable to COVID-19 infection. Up to now, there is no yet literature on the subject, but, like in general population, the presence of comorbidities such as diabetes, heart disease, pulmonary hypertension, reduced kidney and/or liver function, worsen the effects of the infection. Splenectomy may be an additional risk factor.


Assuntos
Anemia Falciforme/complicações , Betacoronavirus , Infecções por Coronavirus/complicações , Pneumonia Viral/complicações , Humanos , Pandemias , Sociedades Médicas , Talassemia
11.
Health Qual Life Outcomes ; 18(1): 141, 2020 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-32408899

RESUMO

BACKGROUND: The treatment of children with transfusion-dependent thalassemia (TDT) in Malaysia has progressed since 2005. This study provides an updated health-related quality of life (HRQoL) assessment for children with the disorder and the factors affecting the HRQoL. METHODS: A cross-sectional HRQoL survey of Malaysian children with TDT was conducted using the PedsQL™ 4.0 Generic Core Scales. Patients with non-transfusion dependent thalassemia and other haemoglobinopathies were excluded. Parent-proxy and self-reported HRQoL scores were obtained using a multi-stage convenient sampling. The relationship between HRQoL scores and demographic factors were tested using association, correlation and regression analysis. RESULTS: A total of 368 patients were recruited. The mean (SD) Total Summary Score (TSS) was 80.12(13.87). Predictors for a lower TSS was an increasing age group and the use of dual chelating agents (R2 = 0.057, F (4, 359) = 5.40, p = < 0.001). The mean (SD) Physical Health Summary Score (PHSS) was 82.21 (16.82). Predictors of a higher PHSS score was being male, while predictors of a lower score was an increasing age group and parent-proxy reports(R2 = 0.075, F (5,358) = 5.80, p = < 0.001). The mean (SD) Psychosocial Health Summary Score (PCHS) was 79.39 (14.81). Predictors for a lower PCHS was the use of dual chelating agents(R2 = 0.041, F (1, 362) = 15.60, p = < 0.001). The school functioning score had the lowest mean (SD) score of 69.52(20.92) in the psychosocial dimension. CONCLUSION: The HRQoL of TDT children in Malaysia has improved over the last decade owing to the better access in treatment. However, further effort is needed to improve the school functioning dimension.


Assuntos
Qualidade de Vida , Talassemia/psicologia , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Malásia , Masculino , Pais/psicologia , Autorrelato
12.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 28(2): 572-576, 2020 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-32319398

RESUMO

OBJECTIVE: To compare the efficacy of different thalassemia screening strategies used for the couple of pre-pregnancy. METHODS: A total of 1 159 couples were recruited in Chongqing health center for women and children from January 2019 to June 2019. Routine blood test, hemoglobin test and thalassemia gene test were performed for all the coulpes. The efficacy of thalassemia screening strategies were compared. Strategy 1: Hemoglobin was tested if the woman's MCV <80 fl and/or MCH <27 pg, and test for thalassemia genes was required further according to the result of hemoglobin test. If the woman was a thalassemia carrier, it is recommended that the man would receive the corresponding thalassemia gene test, and if the man carried the same type of thalassemia gene, so it meant positive. Strategy 2: the woman's blood cut-off value was MCV<82 fl and/or MCH<27 pg, and the follow-up procedure was the same as strategy 1. Strategy 3: If both of cople showed MCV (<80 fl) and/or MCH (<27 pg), the couple would be tested for hemoglobin electrophoresis, and if both of the couple showed abnomal result of hemoglobin electrophoresis, the couple would be tested for thalassemia gene. If the couple carried the same thalassemia gene, it meant positive. Strategy 4: If one of the couple or both of them showed MCV (<80 fl) and/or MCH (<27 pg), the couple would be tested for hemoglobin electrophoresis, if the couple showed MCV (<80 fl) and/or MCH (<27 pg) and/or the abnormal result of hemoglobin test, genetic test for thalassemia test were performed. RESULTS: A total of 15 couples were thalassemia positive. According to the ROC curve, the area under the curve of strategy 2 was the largest but the cost was the highest. The area under the curve of strategy 4 was slightly less than that of strategy 2, but the cost was lower. CONCLUSION: Strategy 4 is recommended in the case of high degree of male cooperation and strategy 2 is recommended in the case of low degree of male cooperation.


Assuntos
Programas de Rastreamento , Talassemia , Criança , Feminino , Testes Genéticos , Testes Hematológicos , Hemoglobinas , Humanos , Masculino , Gravidez
13.
Lab Med ; 51(2): 143-150, 2020 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-32155272

RESUMO

BACKGROUND: Cardiomyopathic manifestations induced by continuous blood transfusion are the leading cause of death among patients with thalassemia major (TM). Despite introduction of chelation therapy, heart failure after cardiomyopathic manifestations is still a major threat to patients. METHODS: We performed a search of relevant English-language literature, retrieving publications from the PubMed database and the Google Scholar search engine (2005-2018). We used "thalassemia major", "cardiomyopathy", "iron overload", "cardiac magnetic resonance T2" "chelation therapy", and "iron burden" as keywords. RESULTS: The results of the studies we found suggest that cardiac hepcidin is a major regulator of iron homeostasis in cardiac tissue. Unlike previous assumptions, the heart appears to have a limited regeneration capability, originating from a small population of hypoxic cardiomyocytes. CONCLUSIONS: Oxygen levels determine cardiomyocyte gene-expression patterns. Upregulation of cardiac hepcidin in hypoxia preserves cardiomyocytes from forming out of reactive oxygen species catalyzed by free cellular iron in cardiomyocytes. Using the limited regeneration capacity of cardiac cells and gaining further understanding of the cellular aspects of cardiomyopathic manifestations may help health care professionals to develop new therapeutic strategies.


Assuntos
Cardiomiopatias/diagnóstico , Cardiomiopatias/terapia , Terapia por Quelação/métodos , Testes Diagnósticos de Rotina/métodos , Gerenciamento Clínico , Sobrecarga de Ferro/complicações , Talassemia/complicações , Cardiomiopatias/patologia , Cardiomiopatias/fisiopatologia , Humanos , Talassemia/terapia
14.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 28(1): 230-234, 2020 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-32027282

RESUMO

OBJECTIVE: to explore the value of capillary electrophoresis in screening ß- thalassemia of children, and to establish the cutoff values of HbA2 and HbF in our laboratory. METHODS: The data of hemoglobin capillary electrophoresis and genetic diagnosis of ß- thalassemia from 886 examined children were retrospectively analyzed. The cutoff values of HbA2 and HbF were determined by ROC curve. RESULTS: The cutoff value of HbA2 screening minor ß- thalassemia was 3.65%, the specificity was 0.996, and the sensitivity was 0.995. The cut-off value of HbF for screening minor ß- thalassemia was 1.45%, specificity was 0.751 and sensitivity was 0.675. Thus, 1 case with codon5 (CCT→C) mutation, 1 case with SEA -HPFH ß deletion, 1 case with - 28 (A→G) merger IVS-Ι-128 (T→G) double heterozygous mutations yet were found out, 1 case with 47 bp ß gene missing has not yet been reported in literature. CONCLUSION: Capillary electrophoresis has more high sensitivity and specificity in the screening of ß- thalassemia in children, especially for the detection of rare ß- thalassemia.


Assuntos
Talassemia , Criança , Eletroforese Capilar , Hemoglobina Fetal , Hemoglobina A2 , Humanos , Estudos Retrospectivos
16.
Blood ; 135(8): 516-518, 2020 02 20.
Artigo em Inglês | MEDLINE | ID: mdl-32078688
18.
Blood ; 135(8): 547-557, 2020 02 20.
Artigo em Inglês | MEDLINE | ID: mdl-31899794

RESUMO

Erythroferrone (ERFE) is produced by erythroblasts in response to erythropoietin (EPO) and acts in the liver to prevent hepcidin stimulation by BMP6. Hepcidin suppression allows for the mobilization of iron to the bone marrow for the production of red blood cells. Aberrantly high circulating ERFE in conditions of stress erythropoiesis, such as in patients with ß-thalassemia, promotes the tissue iron accumulation that substantially contributes to morbidity in these patients. Here we developed antibodies against ERFE to prevent hepcidin suppression and to correct the iron loading phenotype in a mouse model of ß-thalassemia [Hbb(th3/+) mice] and used these antibodies as tools to further characterize ERFE's mechanism of action. We show that ERFE binds to BMP6 with nanomolar affinity and binds BMP2 and BMP4 with somewhat weaker affinities. We found that BMP6 binds the N-terminal domain of ERFE, and a polypeptide derived from the N terminus of ERFE was sufficient to cause hepcidin suppression in Huh7 hepatoma cells and in wild-type mice. Anti-ERFE antibodies targeting the N-terminal domain prevented hepcidin suppression in ERFE-treated Huh7 cells and in EPO-treated mice. Finally, we observed a decrease in splenomegaly and serum and liver iron in anti-ERFE-treated Hbb(th3/+) mice, accompanied by an increase in red blood cells and hemoglobin and a decrease in reticulocyte counts. In summary, we show that ERFE binds BMP6 directly and with high affinity, and that antibodies targeting the N-terminal domain of ERFE that prevent ERFE-BMP6 interactions constitute a potential therapeutic tool for iron loading anemias.


Assuntos
Anticorpos Neutralizantes/uso terapêutico , Citocinas/antagonistas & inibidores , Hepcidinas/metabolismo , Proteínas Musculares/antagonistas & inibidores , Talassemia/tratamento farmacológico , Animais , Anticorpos Neutralizantes/farmacologia , Linhagem Celular , Citocinas/química , Citocinas/metabolismo , Células HEK293 , Humanos , Ferro/metabolismo , Masculino , Camundongos Endogâmicos C57BL , Proteínas Musculares/química , Proteínas Musculares/metabolismo , Domínios Proteicos/efeitos dos fármacos , Talassemia/metabolismo
19.
Clin Biochem ; 76: 11-16, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31765637

RESUMO

OBJECTIVE: The clinical and hematologic features of thalassemia are due to different factors, and patients with identical genotypes may regularly exhibit variable severity. In the present work, one homozygous Chinese Gγ+(Aγδß)0-thalassemia case with an asymptomatic phenotype, which is contrary to traditional views, was identified. Analysis of the underlying causes of this rare clinical phenotype involved accurate genetic diagnosis and detection of several genetic modifications. METHODS: Six members of the proband's family were enrolled in the study. Hematological parameters and hemoglobin analysis results were recorded. A suspension-array system, multiplex gap-polymerase chain reaction (gap-PCR) and multiplex ligation-dependent probe amplification (MLPA) were used together to characterize genotypes. Sanger sequencing was utilized to examine the KLF1 gene and four primary fetal hemoglobin (Hb F)-associated single-nucleotide polymorphisms (SNPs). RESULTS: Four family members carried the Chinese Gγ+(Aγδß)0-thalassemia mutation, and a homozygous state was ultimately diagnosed for the proband. All of the Chinese Gγ+(Aγδß)0 mutation-positive cases were coinherited with the Southern Asian α-thalassemia deletion (- - SEA/αα). Two SNP variants, rs7776054 and rs9399137, in the HBS1L-MYB locus were detected in the proband. CONCLUSIONS: Thus far, this is the first study to describe the molecular characterization of a homozygous Chinese Gγ+(Aγδß)0-thalassemia patient who exhibits no clinical symptoms. Our findings suggest that coinheritance of α-thalassemia or HBS1L-MYB locus variants may affect the clinical severity of Chinese Gγ+(Aγδß)0-thalassemia. We conclude that the molecular examination of genetic determinants known to be associated with clinical outcomes in Chinese Gγ+(Aγδß)0-thalassemia should be emphasized.


Assuntos
Deleção de Genes , Homozigoto , Fenótipo , Talassemia/genética , Adulto , China , Feminino , Humanos , Masculino , Mutação , Gravidez
20.
J Clin Pathol ; 73(4): 183-190, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31771971

RESUMO

OBJECTIVES: To evaluate the antenatal sickle cell and thalassaemia screening programme in England over 10 years from 1 April 2007 to 31 March 2017. METHODS: Four routine data sources were used: antenatal screening laboratory data; key performance indicator data from maternity trusts; prenatal diagnosis (PND) laboratory data and data from screening incidents. RESULTS: For the 10 years examined a total of 6608 575 booking samples were reported as screened, and 154 196 pregnant women required further testing. There were 3941 reported PND tests of which there were 964 affected fetal results. Antenatal test coverage and Family Origin Questionnaire completion rates are high and increasing; the proportion of tests declined has decreased. However, there is wide variation in the timing of antenatal tests and completeness of follow-up and testing. Since 2014/2015 a lower proportion of PND tests are performed by the programme standard of 12+6 weeks. Results suggest that PND timing affects reproductive choices as those with an affected fetus identified by PND testing earlier are more likely to terminate the pregnancy. CONCLUSIONS: The screening programme appears to be widely accepted as part of routine antenatal care in England. However, the timeliness of screening and subsequent PND testing has consistently not met programme standards. Improving timeliness would enable individuals to consider their options to make informed choices for their pregnancies at the appropriate time. This paper reports carrier rates for an almost complete cohort of women which provides important epidemiological information on the genetic profile of women in England.


Assuntos
Anemia Falciforme/diagnóstico , Diagnóstico Pré-Natal/métodos , Talassemia/diagnóstico , Anemia Falciforme/epidemiologia , Técnicas de Laboratório Clínico , Diagnóstico Precoce , Inglaterra/epidemiologia , Feminino , Humanos , Avaliação de Programas e Projetos de Saúde , Inquéritos e Questionários , Talassemia/epidemiologia
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