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1.
Med Sci Monit Basic Res ; 27: e929207, 2021 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-33397841

RESUMO

As of November 25, 2020, over 60 million people have been infected worldwide by COVID-19, causing almost 1.43 million deaths. Puzzling low incidence numbers and milder, non-fatal disease have been observed in Thailand and its Southeast (SE) Asian neighbors. Elusive genetic mechanisms might be operative, as a multitude of genetic factors are widely shared between the SE Asian populations, such as the more than 60 different thalassemia syndromes (principally dominated by the HbE trait). In this study, we have plotted COVID-19 infection and death rates in SE Asian (SEA) countries against heterozygote HbE and thalassemia carrier prevalence. COVID-19 infection and death incidence numbers appear inversely correlated with the prevalence of HbE and thalassemia heterozygote populations. We posit that the evolutionary protective effect of the HbE and other thalassemic variants against malaria and the dengue virus may extend its advantage to resistance to COVID-19 infection, as HbE heterozygote population prevalence appears to be positively correlated with immunity to COVID-19. Host immune system modulations induce antiviral interferon responses and alter structural protein integrity, thereby inhibiting cellular access and viral replication. These changes are possibly engendered by HbE carrier miRNAs. Proving this hypothesis is important, as it may shed light on the mechanism of viral resistance and lead to novel antiviral treatments. This development can thus guide decision-making and action to prevent COVID-19 infection.


Assuntos
/genética , Resistência à Doença/genética , Suscetibilidade a Doenças , Hemoglobina E/genética , Antivirais/uso terapêutico , Grupo com Ancestrais do Continente Asiático , /imunologia , Dengue/genética , Heterozigoto , Humanos , Sistema Imunitário , Interferons , Malária/genética , Pandemias , Prevalência , Tailândia/epidemiologia , Talassemia/epidemiologia , Talassemia/genética
2.
Acta Biomed ; 91(3): e2020026, 2020 09 07.
Artigo em Inglês | MEDLINE | ID: mdl-32921722

RESUMO

A review of the literature on COVID-19 pandemic in patients with thalassemias is presented. Globally, the prevalence of COVID-19 among  ß-thalassemia patients seems to be lower than in general population; associated co-morbidities aggravated the severity of  COVID- 19, leading to a poorer prognosis, irrespective of age. A multicenter registry will enhance the understanding of COVID-19 in these patients and will lead to more evidence-based management recommendations.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Pandemias , Pneumonia Viral/epidemiologia , Talassemia/epidemiologia , Comorbidade , Saúde Global , Humanos , Prevalência
3.
Arch Osteoporos ; 15(1): 148, 2020 09 21.
Artigo em Inglês | MEDLINE | ID: mdl-32955681

RESUMO

Despite the significant improvements in the management of thalassemia, there are growing concerns regarding their long-term complications. We showed that low bone mass is one of the most prevalent complications among these patients. Insufficient physical activity and hypogonadism are the main possible associated factors followed by DM and insufficient sun exposure. PURPOSE: Despite the significant improvements in the management of transfusion-dependent thalassemia (TDT), there are growing concerns regarding their long-term complications. METHODS: This cross-sectional study included 615 TDT patients who were registered and followed in a comprehensive thalassemia clinic in Southern Iran. We measured serum biochemical tests and bone mineral density in all patients. We recorded physical activity and sun exposure subjectively, and an endocrinologist visited and examined all the patients. A group of age- and gender-matched healthy volunteers participated in the study as the control group. RESULTS: The mean age of the studied population was 28.4 ± 7.7 years, and 55.8% were female. The prevalence of vitamin D deficiency was 45.6% and 54.4% in TDT patients and the control group. A portion of TDT patients suffered from different endocrinopathies, which included hypogonadism (49.8%), diabetes mellitus (17.2%), hypoparathyroidism (14.6%), and hypothyroidism (6.3%). The prevalence of low bone mass in patients with TDT was 48.3 and 74.6% in the femoral and lumbar bones, respectively. Low physical activity, insufficient sun exposure, diabetes mellitus, and hypogonadism were associated with low bone mass. CONCLUSION: Low bone mass is highly prevalent among TDT patients in Southern Iran. Insufficient physical activity and hypogonadism are the main possible associated factors, followed by DM and insufficient sun exposure.


Assuntos
Transfusão de Sangue , Densidade Óssea , Talassemia/terapia , Adulto , Colecistectomia , Estudos Transversais , Feminino , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Prevalência , Esplenectomia , Talassemia/epidemiologia , Resultado do Tratamento , Deficiência de Vitamina D/epidemiologia , Adulto Jovem
4.
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
6.
Acta Haematol ; 143(3): 196-203, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31550707

RESUMO

INTRODUCTION: Timely diagnosis and effective treatment, based on epidemiologic data, consistently reduce the clinical, social and economic burden of inherited erythrocyte disorders. OBJECTIVE: This article provides an overview on current worldwide epidemiology of the most frequent inherited erythrocyte disorders. METHODS: Information was obtained from Global Health Data Exchange (GHDx) database. RESULTS: Glucose-6-phosphate dehydrogenase (G6PD) deficiency has the largest worldwide incidence and prevalence. Sickle cell disorders (SCD) cause the highest cause-specific disability-adjusted life years (DALYs). Incidence and prevalence of SCD have recently increased, whilst DALYs and mortality remained stable. All epidemiologic measures of thalassemias have recently declined, whilst those of G6PD deficiency remained stable or increased. Africa has the highest incidence of G6PD deficiency and SCD, whilst thalassemias are more frequent in Western Pacific. The incidence of all inherited erythrocyte disorders is increasing in Africa and Eastern Mediterranean, whilst is decreasing in South-East Asia, Western Pacific and Europe. Thalassemias and SCD display a peak of prevalence and mortality between 0 and 15 years, whilst mortality for G6PD deficiencies and other hemoglobinopathies peaks between 45 and 75 years and >80 years, respectively. Men have higher burden of G6PD deficiencies, whilst sex distribution of SCD and thalassemias is similar. CONCLUSIONS: The worldwide epidemiologic burden of inherited erythrocyte disorders remains particularly high.


Assuntos
Hemoglobinopatias/epidemiologia , Distribuição por Idade , Anemia Falciforme/epidemiologia , Bases de Dados Factuais , Eritrócitos Anormais , Geografia Médica , Saúde Global , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Hemoglobinopatias/genética , Humanos , Incidência , Classificação Internacional de Doenças , Prevalência , Anos de Vida Ajustados por Qualidade de Vida , Distribuição por Sexo , Talassemia/epidemiologia
7.
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
8.
Med J Malaysia ; 74(5): 365-371, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31649210

RESUMO

INTRODUCTION: Thalassemias are the most common human monogenic disorders in the world. Regular blood transfusion and increased intestinal absorption of iron among thalassemia patients will lead to iron overload, which will not only markedly decrease their life expectancy but also pose a heavy burden to the healthcare system. The objective of this study was to evaluate the level of knowledge, attitude and practice towards dietary iron among thalassemia patients and their caregivers. METHODS: An analytical cross-sectional study using purposive sampling method was conducted at eight thalassemia societies in Peninsular Malaysia. 260 respondents comprised of patients and caregivers were assessed with two separate sets of questionnaires. RESULTS: Knowledge on dietary iron among the respondents was unsatisfactory, despite them having good knowledge on thalassemia disorder. Female patients were found to have better dietary knowledge, attitude and practice compared to males. The percentage of caregivers with good attitude and good practice were significantly higher compared to adult patients. Caregivers with children on iron chelators were noted to have better dietary attitude and practice. Thalassemia knowledge and children on vitamins were found to be the predictors of dietary knowledge among the patients and caregivers respectively. CONCLUSION: The level of knowledge on dietary iron among the patients and caregivers was unsatisfactory in spite of their attitude and practice towards dietary iron were good. Effective delivery of dietary information to the patients and caregivers is essential to enable them to choose a healthy diet for their condition.


Assuntos
Cuidadores/normas , Conhecimentos, Atitudes e Prática em Saúde , Ferro na Dieta/farmacologia , Talassemia/terapia , Adolescente , Adulto , Idoso , Estudos Transversais , Suplementos Nutricionais , Feminino , Humanos , Incidência , Malásia/epidemiologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Inquéritos e Questionários , Talassemia/epidemiologia , Adulto Jovem
9.
Br J Haematol ; 187(4): 431-440, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31509241

RESUMO

Sickle cell disease (SCD) and thalassaemia are genetic disorders that are caused by errors in the genes for haemoglobin and are some of the most common significant genetic disorders in the world, resulting in significant morbidity and mortality. Great disparities exist in the outcome of these conditions between resource- rich and resource-poor nations. Antenatal screening for these disorders aims to provide couples with information about their reproductive risk and enable them to make informed reproductive choices; ultimately reducing the likelihood of children being born with these conditions. This review provides an overview of the current status of antenatal, pre-marital and population screening of SCD and thalassaemia in countries with both high-and low prevalence of these conditions, methods of screening in use, and discusses some of the pitfalls, ethical issues and controversies surrounding antenatal screening. It also discusses outcomes of some screening programmes and recognises the need for the establishment of antenatal screening in areas where their prevalence is highest; namely sub-Saharan Africa and India.


Assuntos
Hemoglobinopatias/diagnóstico , Diagnóstico Pré-Natal/métodos , Anemia Falciforme/diagnóstico , Anemia Falciforme/epidemiologia , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal/ética , Diagnóstico Pré-Natal/normas , Talassemia/diagnóstico , Talassemia/epidemiologia
10.
PLoS One ; 14(8): e0220852, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31419232

RESUMO

OBJECTIVES: Our aim was to describe the numbers and distribution of patients with different types of thalassemia and to assess the standards of care in all thalassemia treatment centers throughout Sri Lanka and the success of the ongoing prevention programme. METHODS: This cross-sectional island-wide survey was conducted by two trained medical graduates, who visited each thalassemia center to collect data from every patient, using a standardized form. Data was collected through review of patient registers and clinical records. RESULTS: We collected data on 1774 patients from 23 centers. 1219 patients (68.7%) had homozygous ß-thalassemia, 360 patients (20.3%) had hemoglobin E ß-thalassemia, and 50 patients (2%) had sickle ß-thalassemia. There were unacceptably high serum ferritin levels in almost all centers. The annual number of births of patients with ß-thalassaemia varied between 45-55, with little evidence of reduction over 19 years. CONCLUSIONS: Central coordination of the treatment and ultimately prevention of thalassemia is urgently needed in Sri Lanka. Development of expert centers with designated staff with sufficient resources will improve the quality of care and is preferred to managing patients in multiple small units.


Assuntos
Talassemia/prevenção & controle , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Qualidade da Assistência à Saúde , Sri Lanka/epidemiologia , Talassemia/epidemiologia , Talassemia/terapia , Talassemia beta/epidemiologia , Talassemia beta/prevenção & controle , Talassemia beta/terapia
11.
Zhonghua Liu Xing Bing Xue Za Zhi ; 40(5): 596-600, 2019 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-31177745

RESUMO

Objective: To investigate the association between the preterm birth and low birth weight and parental thalassemia. Methods: Pregnant women and their husbands receiving prenatal examination in local hospitals or maternal and child health centers in Jingxi and Debao in Guangxi from January to December 2017 were selected as study subjects. A total of 758 pregnant women with pregnancy outcomes and their husbands, who were both or alone diagnosed with thalassemia through thalassemia gene detection, were selected as case group and 758 pregnant women with pregnancy outcomes and their husbands, who were negative in thalassemia gene detection and hemoglobin electrophoresis test were selected as control groups. The case group were further divided into mother group, father group and both mother and farther group. Clinical and pregnancy outcome data of the study subjects were collected for the analysis on the association between parental thalassaemia and preterm birth or low birth weight by the independent sample t test, χ(2) test and Cox regression analysis. Results: The incidence of preterm birth in case group and control group was about 6.5% and 1.6% and the incidence of low birth weight in case group and control group was about 7.3% and 0.8%. After adjusting for possible confounding factors, Cox regression analysis results showed that mother suffering from thalassemia (aRR=3.45, 95%CI: 1.35-8.81, P=0.010), fathers suffering from thalassemia (aRR=4.93, 95%CI: 2.16-11.21, P<0.001) and both mother and farther suffering from thalassemia (aRR=5.13, 95%CI: 2.62-10.04, P<0.001) were associated with preterm birth. Mother suffering from thalassemia (aRR=12.98, 95%CI: 4.91-34.30, P<0.001), fathers suffering from thalassemia (aRR=9.40, 95%CI: 3.40-25.95, P<0.001) and both mother and farther suffering from thalassemia (aRR=10.74, 95%CI: 4.44-26.00, P<0.001) were associated with low birth weight. The newborn whose parent all suffered from thalassemia had higher risks for preterm birth (χ(2)=22.72, P<0.001)and low birth weight (χ(2)=34.03, P<0.001) compared with those only with mother or father suffering from thalassemia. Conclusion: Parental thalassaemia, including both sides and single side, might increase the risks of preterm birth and low birth weight for newborn, and the risks might be higher in newborn with both mother and father suffering from thalassaemia.


Assuntos
Recém-Nascido de Baixo Peso , Nascimento Prematuro/epidemiologia , Talassemia/epidemiologia , Peso ao Nascer , Criança , China/epidemiologia , Feminino , Humanos , Incidência , Recém-Nascido , Masculino , Pais , Gravidez , Resultado da Gravidez , Talassemia/diagnóstico
12.
Hemoglobin ; 43(2): 95-100, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31179787

RESUMO

We explored the severity and risk factors for cardiac and liver iron overload (IOL) in 69 thalassemia patients who underwent T2* magnetic resonance imaging (T2* MRI) in a Malaysian tertiary hospital from 2011 to 2015. Fifty-three patients (76.8%) had transfusion-dependent thalassemia (TDT) and 16 (23.2%) had non transfusion-dependent thalassemia (NTDT). Median serum ferritin prior to T2* MRI was 3848.0 µg/L (TDT) and 3971.0 µg/L (NTDT). Cardiac IOL was present in 16 (30.2%) TDT patients and two (12.5%) NTDT patients, in whom severe cardiac IOL defined as T2* <10 ms affected six (11.3%) TDT patients. Liver IOL was present in 51 (96.2%) TDT and 16 (100%) NTDT patients, 37 (69.8%) TDT and 13 (81.3%) NTDT patients were in the most severe category (>15 mgFe/gm dry weight). Serum ferritin showed a significantly strong negative correlation with liver T2* in both TDT (rs = -0.507, p = 0.001) and NTDT (r = -0.762, p = 0.002) but no correlation to cardiac T2* in TDT (r = -0.252, p = 0.099) as well as NTDT (r = -0.457, p = 0.100). For the TDT group, regression analysis showed that cardiac IOL was more severe in males (p = 0.022) and liver IOL was more severe in the Malay ethnic group (p = 0.028) and those with higher serum ferritin levels (p = 0.030). The high prevalence of IOL in our study and the poor correlation between serum ferritin and cardiac T2* underline the need to routinely screen thalassemia patients using T2* MRI to enable the early detection of cardiac IOL.


Assuntos
Sobrecarga de Ferro/etiologia , Talassemia/metabolismo , Adulto , Transfusão de Sangue , Diagnóstico Precoce , Feminino , Ferritinas/sangue , Humanos , Sobrecarga de Ferro/diagnóstico por imagem , Fígado/metabolismo , Fígado/patologia , Imagem por Ressonância Magnética , Malásia/epidemiologia , Masculino , Miocárdio/metabolismo , Miocárdio/patologia , Prevalência , Fatores de Risco , Fatores Sexuais , Talassemia/epidemiologia
13.
Int J Hematol ; 110(4): 474-481, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31240559

RESUMO

Molecular analysis of globin genes is an essential process for prenatal diagnosis (PND) of severe thalassemia. This study aimed to describe the molecular characteristics of thalassemia and hemoglobin (Hb) variants in PND program in northern Thailand. The type and frequency of globin gene mutations from 1290 couples at risk of fetal severe thalassemia diseases that were tested at Thalassemia Laboratory at Chiang Mai University from 2012 to 2017 were retrospectively reviewed. The PND program detected 444 (34.4%), 196 (15.2%) and 642 (49.8%) couples at risk of fetal Hb Bart's hydrops fetalis, beta-thalassemia major (BTM) and beta-thalassemia/Hb E disease, respectively. Coinheritance of more than one type of thalassemia was common and eight (0.6%) couples were at risk of two types of severe thalassemia. There were two types of alpha0-thalassemia; 893 (99.7%) Southeast Asian and 3 (0.3%) Thai deletions. Twenty beta-globin gene mutations were found with 94.3% of beta0-thalassemia. The codon 41/42 (- TTCT), codon 17 (A>T), IVS-I-1 (G>T) and codon 71/72 (+ A) comprised 90% of beta-thalassemia mutations. The study shows a high percentage of couples at risk of fetal Hb Bart's hydrops fetalis and BTM. The percentage of beta0-thalassemia is higher than those seen in other regions of Thailand.


Assuntos
Doenças Fetais/genética , Hemoglobinas/genética , Mutação , Diagnóstico Pré-Natal/métodos , Serviços Preventivos de Saúde , Talassemia/sangue , Talassemia/genética , Códon/genética , Feminino , Doenças Fetais/sangue , Doenças Fetais/classificação , Doenças Fetais/epidemiologia , Humanos , Hidropisia Fetal/sangue , Hidropisia Fetal/epidemiologia , Hidropisia Fetal/genética , Masculino , Gravidez , Estudos Retrospectivos , Risco , Índice de Gravidade de Doença , Tailândia/epidemiologia , Talassemia/classificação , Talassemia/epidemiologia
14.
Intern Emerg Med ; 14(8): 1299-1306, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31240580

RESUMO

A high incidence of isolated left ventricular non-compaction (LVNC) has been reported in previous studies on smaller cohorts of patients with thalassemia by cardiac MRI but the clinical impact of the finding is unknown. This prospective cohort study evaluates the prevalence and clinical implication of the finding. Prospective cohort study with enrollment of all consecutive cases with thalassemia referred for cardiac MRI from September 2007 to November 2014. The presence of LVNC was assessed according to the Petersen method and the Jacquier method, with the proposed changes by Fazio, Grothoff, and Chiodi. A clinical follow-up was performed in all patients. We included 560 patients with thalassemia (473 with thalassemia major and 87 with thalassemia intermedia: mean age 31.9 ± 10.6 years, male/female = 250/310). A total number of 1683 MRI tests were performed. A diagnosis of LVNC was determined according to adopted MR criteria in 44 patients (7.9%). Patients with LVNC had a significantly lower ejection fraction (52.68 ± 5.17% vs. 56.90 ± 6.34%; p = 0.0005) and greater indexed LV ESV (48.16 ± 10.03 ml/m2 vs. 40.02 ± 10.06 ml/m2; p = 0.0022). After a mean follow-up time was 5.1 years, no significant change of MR parameters was detected as well as no clinical adverse events. LVNC is relatively frequent in patients with thalassemia. However, it is not associated with a worsening of LV function and adverse events after a long-term follow-up.


Assuntos
Volume Sistólico/fisiologia , Talassemia/diagnóstico por imagem , Disfunção Ventricular Esquerda/etiologia , Adulto , Progressão da Doença , Feminino , Humanos , Imagem por Ressonância Magnética/métodos , Masculino , Prevalência , Prognóstico , Estudos Prospectivos , Talassemia/epidemiologia , Talassemia/fisiopatologia , Disfunção Ventricular Esquerda/fisiopatologia
15.
J Endocrinol Invest ; 42(12): 1467-1476, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31228105

RESUMO

PURPOSE: Transfusion-dependent beta-thalassemia (TDT) patients suffer from various endocrinopathies. The main contributing factor associated with these complications is iron overload, secondary to frequent blood transfusions. To improve patients' quality of life, we evaluated the prevalence of endocrine disorders while considering the associated factors for further assessment. METHODS: Seven hundred thirteen transfusion-dependent thalassemia patients with age range 10-62 years were enrolled in this study. Serum calcium, phosphorous, fast blood sugar, ferritin, 25-OH vitamin D, free thyroxin, thyroid-stimulating hormone and parathyroid hormone were assessed. Bone mineral density was measured by dual-energy X-ray absorptiometry. RESULTS: In total, 86.8% of the TDT patients suffered from at least one endocrinopathy. The prevalence of endocrinopathies in descending order of frequency was low bone mass (72.6%), hypogonadism (44.5%), diabetes mellitus (15.9%), hypoparathyroidism (13.2%), and hypothyroidism (10.7%). Age, body mass index and splenectomy were significantly associated with most of the endocrine disorders. CONCLUSION: Endocrine complications are frequently observed in TDT patients. Splenectomy is a major risk factor and should be generally avoided unless it is highly indicated. Periodic surveillance of endocrine function and proper management of iron overload are advised.


Assuntos
Doenças do Sistema Endócrino/epidemiologia , Qualidade de Vida , Talassemia/epidemiologia , Absorciometria de Fóton , Adolescente , Adulto , Densidade Óssea/fisiologia , Cálcio/sangue , Criança , Doenças do Sistema Endócrino/sangue , Feminino , Ferritinas/sangue , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Pessoa de Meia-Idade , Hormônio Paratireóideo/sangue , Fósforo/sangue , Prevalência , Fatores de Risco , Talassemia/sangue , Tireotropina/sangue , Tiroxina/sangue , Adulto Jovem
16.
J Investig Med ; 67(5): 826-832, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31126995

RESUMO

Transfusion-naïve thalassemia minor/trait is often associated with decreased risk of coronary artery diseases. The present study aimed to evaluate the effect of transfusion-naïve thalassemia on the incidence of arterial thromboembolic events using the National Health Insurance Research Database, Taiwan (2001-2010). Data from patients with transfusion-naïve thalassemia (n=2356) frequency matched with non-thalassemia subjects (n=9424) according to sex, age, and index year at a ratio of 1:4 were included. The risk of arterial thromboembolic events, cerebrovascular ischemic events, arterial embolism/thrombosis, peripheral embolism, myocardial infarction, myocardial ischemia, and angina pectoris in transfusion-naïve thalassemia were analyzed using Cox proportional hazard regression models. The transfusion-naïve thalassemia group had significantly higher risk of arterial thromboembolic events (aHR=1.28, 95% CI 1.07 to 1.52) and myocardial ischemia (aHR=1.41, 95% CI 1.13 to 1.76) as compared with the non-thalassemia group. In addition, they also had a significantly higher cumulative incidence of arterial thromboembolic event and myocardial ischemia. Interestingly, a higher risk of arterial thromboembolic events (aHR=1.58, 95% CI 1.22 to 2.04) and myocardial ischemia (aHR=1.73, 95% CI 1.25 to 2.41) was observed in men with thalassemia as compared with those without. Furthermore, patients with comorbidities had an increased risk of arterial thromboembolic events than did those without comorbidities. The effect of thalassemia on arterial thromboembolic events may be mainly attributed to the influence of thalassemia on myocardial ischemia, as no significant differences were observed in other outcomes evaluated in the present study. In conclusion, the present study confirms the increased risk of arterial thromboembolic events, mainly attributed to the dramatic increase in myocardial ischemia, inminor patients with transfusion-naïve thalassemia.


Assuntos
Artérias/patologia , Transfusão de Sangue , Talassemia/complicações , Tromboembolia/epidemiologia , Tromboembolia/etiologia , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Incidência , Masculino , Fatores de Risco , Talassemia/epidemiologia
17.
BMC Med Genet ; 20(1): 86, 2019 05 22.
Artigo em Inglês | MEDLINE | ID: mdl-31113390

RESUMO

BACKGROUND: Southern China provinces have high incidence of thalassemia, however, sporadic cases can be found in northern China as well. METHODS: People resided in north China who were suspected to have thalassemia were detected mutations by gap-polymerase chain reaction (Gap-PCR) and reverse dot blot (RDB) analyses. Those with positive findings from 2012 to 2017 were further analyzed for basic clinical data and ancestral information either by medical records or by telephone follow-up or both. RESULTS: Most people enrolled in our study had no or mild symptoms. For those with positive gene findings, people originated from the north had higher percentage of ß-thalassemia gene mutations compared with those originated from the south (72.8% vs. 62.4%, χ2 = 9.92, P = 0.001). Analysis of the individual gene distribution of people from south and north areas did not show significant difference either in α- thalassemia (P = 0.221) or ß-thalassemia (P = 0.979). No significant difference was found in the frequency of α mutation in people living in different altitudes. However, for ß-thalassemia, the frequency of the 6 most common mutations was significantly different in people living in different provinces with altitude below 500 m, 500-1000 m, and above 1000 m (χ2 test, P < 0.05). CONCLUSION: Most of people in north China with thalassemia mutation gene were thalassemia carriers. People originated from the north had higher frequency of ß mutation than those originated from the south, but the north people had similar individual gene mutation profile compared with south people both for α and ß mutations. People lived in different altitudes had different spectrum of ß mutations.


Assuntos
Talassemia/genética , Adolescente , Adulto , Criança , Pré-Escolar , China/epidemiologia , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Mutação , Reação em Cadeia da Polimerase , Talassemia/epidemiologia , Adulto Jovem
18.
Mymensingh Med J ; 28(2): 364-369, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31086152

RESUMO

Thalassaemia patients are the highest consumers of blood. Recurrent exposure to allogenic red cell antigen puts this population at increased risk of alloimmunization. This causes delayed hemolytic transfusion reactions. So transfusion requirement increases. But no data regarding alloimmunization was available in Bangladesh. Aim of this study was to estimate the prevalence of alloimmunization and to find out the potential factors associated with its development. This analytical cross sectional study was done by enrolling 97 patients, received at least 10 units transfusions, through convenient sampling. Indirect and direct antiglobulin tests were done to detect immunization by spin tube technique keeping an autocontrol and carried out in the Department of Haematology & Department of Transfusion Medicine, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh from March 2016 to March 2017. Polyclonal anti-AHG reagent was used. A total 21 patients developed alloimmunization (21.6%) and 4 patients (4.1%) developed autoimmunization. Age, gender, splenectomy and number of transfusion are shown significant risk factors for alloimmunization. Data from this study demonstrate that the RBC alloimmunization is significantly high in our country. So, pretransfusion antibody screening needs to be initiated in order to ensure safe transfusion and RBC phenotyping should be started before starting first transfusion to prevent alloimmunization.


Assuntos
Incompatibilidade de Grupos Sanguíneos/imunologia , Eritrócitos/imunologia , Isoanticorpos/sangue , Talassemia/imunologia , Talassemia/terapia , Reação Transfusional , Bangladesh/epidemiologia , Antígenos de Grupos Sanguíneos/imunologia , Incompatibilidade de Grupos Sanguíneos/epidemiologia , Transfusão de Sangue/estatística & dados numéricos , Estudos Transversais , Humanos , Prevalência , Talassemia/sangue , Talassemia/epidemiologia
19.
Mol Genet Genomic Med ; 7(6): e680, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30968607

RESUMO

BACKGROUND: Thalassemia is a common genetic disorder. High prevalence of thalassemia is found in South China, Southeast Asia, India, the Middle East, and the Mediterranean regions. Thalassemia was thought to exist only in southern China, but an increasing number of cases from northern China have been recently reported. METHODS: During 2012 to 2017, suspected thalassemia people were detected for common α- and ß-thalassemia mutations by gap-Polymerase Chain Reaction (PCR) and reverse dot blot (RDB) analysis in Peking Union Medical College Hospital. One thousand and fifty-nine people with thalassemia mutations were analyzed retrospectively. We picked mutated individuals who originally came from northern areas, and conducted telephone follow-up survey in order to collect their ancestral information. Besides, we used "thalassemia", "mutation", and "Southeast Asian countries" as keywords to search the relevant studies in PubMed and Embase databases. RESULTS: All carriers included in our study were resided in northern China. Among them, 17.3% were native northerners and 82.7% were immigrants from southern China. Although substantial difference was found in α- and ß-thalassemia ratio and detailed spectrum of α- and ß-globin mutation spectrum between our data and data obtained from a previous meta-analysis literature focused on southern China, the most common gene mutations were the same. Similar ß-thalassemia mutation spectrum was found among Thai, Malaysian Chinese, and Guangdong people, however, no other similarities in gene profile were found between Chinese and other ethnic groups in Southeast Asia. CONCLUSION: Chinese people in different areas had similar gene mutation, whereas they had significantly different mutation spectrums from other ethnic groups in Southeast Asia.


Assuntos
Taxa de Mutação , Talassemia/genética , alfa-Globinas/genética , Globinas beta/genética , Ásia Sudeste , China , Humanos , Talassemia/epidemiologia
20.
PLoS One ; 14(3): e0214148, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30893381

RESUMO

Disease-related complications and management are different among patients with thalassemia. This study was aimed to review the prevalence, clinical risk factors for the complications and the management in patients with thalassemia in Thailand. A multicenter cross-sectional study was conducted in patients with thalassemia aged ≥ 18 years old. Thalassemia-related complications and management were reviewed. The clinical parameters significantly associated with the complications were analyzed by logistic regression methods. The prevalence of thalassemia-related complications was 100% in patients with transfusion-dependent thalassemia (TDT) and 58.8% in patients with non-transfusion-dependent thalassemia (NTDT). Advanced age was statistically associated with extramedullary hematopoiesis in both TDT and NTDT patients. Splenectomy was a significant risk factor for pulmonary hypertension in both groups of patients. Severe iron overload started earlier in patients with TDT than NTDT and was associated with diabetes mellitus (adjusted odds ratio (AOR) = 6.2, p-value = 0.02). Disease-related complications are more prevalent in patients with TDT than patients with NTDT. Splenectomy and advanced age were important risk factors for developing major complications in both groups. Early screening and management for specific disease-related complications should be considered in patients with thalassemia according to their clinical risk factors.


Assuntos
Hematopoese Extramedular , Hipertensão Pulmonar , Sobrecarga de Ferro , Talassemia , Adulto , Transfusão de Sangue , Estudos Transversais , Feminino , Humanos , Hipertensão Pulmonar/epidemiologia , Hipertensão Pulmonar/etiologia , Hipertensão Pulmonar/fisiopatologia , Sobrecarga de Ferro/epidemiologia , Sobrecarga de Ferro/etiologia , Sobrecarga de Ferro/fisiopatologia , Masculino , Prevalência , Tailândia/epidemiologia , Talassemia/complicações , Talassemia/epidemiologia , Talassemia/fisiopatologia , Talassemia/terapia
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