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1.
Med J Malaysia ; 79(3): 281-287, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38817060

RESUMO

INTRODUCTION: Thalassaemia is one of the major health problems in Malaysia. With safe blood transfusion regime, the lifespan of patients with transfusion-dependent thalassaemia (TDT) has improved but at the cost of a higher risk of developing endocrine disorders. It is crucial for us to monitor the iron overload to prevent end organ damage. This study aims to evaluate the iron burden and prevalence of endocrinopathies in patients with TDT in Sarawak. MATERIALS AND METHODS: This retrospective cohort study was conducted between January 2020 to June 2020 in six government hospitals in Sarawak. A total of 89 patients with TDT, aged 10 years and above, were recruited. RESULTS: Out of the 89 patients, there were 54 males (60.7%) and 35 females (39.3%) with a median age of 21 years (range 10.0-65.0). Sixty-seven (75.3%) patients had betathalassaemia major and 15 (16.9%) patients had haemoglobin E beta-thalassaemia (HbE beta-thalassaemia), remaining seven patients had other genotypes. Thirty-one (34.8%) patients had mean serum ferritin 2500ng/ml and above, and 44 (66.6%) had liver iron concentration (LIC) ≥7mg/g. The prevalence of endocrine disorders in our cohort was 69.7%. The most common endocrinopathies were short stature (n=46, 51.7%), followed by hypogonadism (n=24, 26.9%), delayed puberty (n=23, 25.8%), hypothyroidism (n=10, 11.2%), diabetes mellitus (n=9, 10.1%), impaired glucose tolerance (n=6, 6.7%) and hypoparathyroidism (n=3, 3.3%). Endocrinopathies were significantly associated with age (p=0.01), age at initiating regular blood transfusion (p<0.01) and duration of regular blood transfusion (p<0.01). CONCLUSION: Our data shows that the development of endocrinopathies in TDT can be time dependent. Early detection of endocrine-related complications and prompt treatment with iron chelation therapy are important to improve morbidity and mortality. A multidisciplinary approach with good patient-doctor collaboration is the key to improving patient care in our settings.


Assuntos
Transfusão de Sangue , Doenças do Sistema Endócrino , Sobrecarga de Ferro , Talassemia , Humanos , Masculino , Estudos Retrospectivos , Feminino , Malásia/epidemiologia , Adulto , Criança , Adolescente , Doenças do Sistema Endócrino/epidemiologia , Doenças do Sistema Endócrino/etiologia , Adulto Jovem , Talassemia/terapia , Talassemia/complicações , Talassemia/epidemiologia , Transfusão de Sangue/estatística & dados numéricos , Pessoa de Meia-Idade , Sobrecarga de Ferro/etiologia , Sobrecarga de Ferro/epidemiologia , Prevalência , Idoso , Ferro/metabolismo
2.
Med J Malaysia ; 79(3): 348-359, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38817070

RESUMO

INTRODUCTION: Thalassaemia has been prevalent with high morbidity and mortality rates since 1925. Although there is a lack of systematic review on the costs of prevention that has yielded reductions in thalassaemia prevalence, this review will show a widespread presence of complex but effective strategies in reducing national thalassaemia prevalence. MATERIALS AND METHODS: A systematic search was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA 2020). Designated keywords were combined with search functions and Boolean operators in databases like Scopus, Web of Science and several other search databases. RESULTS: The search identifed 5425 potential articles. Most countries reported a decline in thalassaemia prevalence after implementing intervention programmes for several decades. The screening methods, however, varies, and the speed of reductions depends on the type of screening approach that involves blood screening of adolescence and antenatal mothers and, in some countries, includes termination of pregnancy. In addition, the cost of these initiatives varies as it was challenging to find a common denominator. However, the endpoint concedes that the cost of screening, although substantial, would be offset by the cost of reduction of cases. In some countries, cost-effectiveness analyses have been reported to support the initiatives of thalassaemia screening and prevention in the long run. CONCLUSION: The results showed significant variations in success rates with a significant reduction in the prevalence of Thalassaemia. Most successful are countries with comprehensive and aggressive prevention and control programmes that engaged with lab screening, counselling, and termination of pregnancy as a package.


Assuntos
Talassemia , Humanos , Talassemia/diagnóstico , Talassemia/epidemiologia , Talassemia/economia , Gravidez , Feminino , Programas de Rastreamento/economia , Análise Custo-Benefício , Prevalência , Diagnóstico Pré-Natal/economia
3.
Int J Clin Pharm ; 46(3): 736-744, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38551751

RESUMO

BACKGROUND: Medication burden and complexity have been longstanding problems in chronically ill patients. However, more data are needed on the extent and impact of medication burden and complexity in the transfusion-dependent thalassaemia population. AIM: The aim of this study was to determine the characteristics of medication complexity and polypharmacy and determine their relationship with drug-related problems (DRP) and control of iron overload in transfusion-dependent thalassaemia patients. METHOD: Data were derived from a cross-sectional observational study on characteristics of DRPs conducted at a Malaysian tertiary hospital. The medication regimen complexity index (MRCI) was determined using a validated tool, and polypharmacy was defined as the chronic use of five or more medications. The receiver operating characteristic curve analysis was used to determine the optimal cut-off value for MRCI, and logistic regression analysis was conducted. RESULTS: The study enrolled 200 adult patients. The MRCI cut-off point was proposed to be 17.5 (Area Under Curve = 0.722; sensitivity of 73.3% and specificity of 62.0%). Approximately 73% and 64.5% of the patients had polypharmacy and high MRCI, respectively. Findings indicated that DRP was a full mediator in the association between MRCI and iron overload. CONCLUSION: Transfusion-dependent thalassaemia patients have high MRCI and suboptimal control of iron overload conditions in the presence of DRPs. Thus, future interventions should consider MRCI and DRP as factors in serum iron control.


Assuntos
Transfusão de Sangue , Sobrecarga de Ferro , Polimedicação , Talassemia , Humanos , Estudos Transversais , Masculino , Feminino , Talassemia/terapia , Talassemia/epidemiologia , Talassemia/sangue , Talassemia/tratamento farmacológico , Adulto , Sobrecarga de Ferro/tratamento farmacológico , Sobrecarga de Ferro/epidemiologia , Adulto Jovem , Pessoa de Meia-Idade , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/prevenção & controle , Adolescente
4.
Ann N Y Acad Sci ; 1529(1): 14-20, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37676814

RESUMO

Thalassemia management has undergone significant development with the advancement in iron chelation therapy, which has led to a prolonged life expectancy. This has been accompanied by the emergence of several new morbidities and chronic diseases, including cancer. Over the years, multiple cases of solid and hematologic malignancies in thalassemia patients have been reported in the literature, with no clear mechanism for the development of cancer in these patients despite a number of potential mechanisms. However, the results of many studies have been contradictory regarding the risk of development of malignancies in thalassemia. The present review aims to discuss the available data on cancer and thalassemia in the literature, with the latest updates regarding possible malignancy development mechanisms, risks, and the most commonly reported types.


Assuntos
Neoplasias Hematológicas , Sobrecarga de Ferro , Neoplasias , Talassemia , Humanos , Transfusão de Sangue/métodos , Talassemia/complicações , Talassemia/epidemiologia , Talassemia/terapia , Neoplasias/epidemiologia , Neoplasias Hematológicas/epidemiologia , Quelantes de Ferro/uso terapêutico , Sobrecarga de Ferro/complicações
5.
JNMA J Nepal Med Assoc ; 61(262): 543-545, 2023 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-37464845

RESUMO

Introduction: Raised serum ferritin levels often indicate iron overload, but they are not specific as the levels are elevated in inflammatory disorders, liver diseases, alcohol excess, or malignancy. If regular transfusions are required for the patient with thalassemia, this doubles the rate of iron accumulation leading to earlier massive iron overload and iron-related damage. The aim of this study aimed to find out the prevalence of high serum ferritin levels among blood-transfused thalassemic patients admitted to the Department of Paediatrics in a tertiary care centre. Methods: A descriptive cross-sectional study was conducted at a tertiary care centre from 1 March 2022 to 31 December 2022. Ethical approval was taken from the Institutional Review Committee (Reference number: 078/79-017/HG). Children who were confirmed by haemoglobin electrophoresis on regular blood transfusion were included in the study. Those who did not gave consent were excluded from the study. Convenience sampling method was used. Point estimate and 90% Confidence Interval were calculated. Results: Out of 53 cases, the prevalence of high serum ferritin level was seen in 46 (88.79%) (80.30-97.28, 95% Confidence Interval). Among 46, 34 (73.91%) had serum ferritin levels of more than 1000 to 2500 ng/ml whereas 12 (26.09%) had more than 25000 ng/ml. Conclusions: The prevalence of high serum ferritin levels among blood transfused thalassemic patients admitted to the Department of Paediatrics in a tertiary care centre was found to be higher than in other studies done in similar settings. Keywords: blood transfusion; ferritin; thalassemia.


Assuntos
Sobrecarga de Ferro , Pediatria , Talassemia , Talassemia beta , Humanos , Criança , Estudos Transversais , Centros de Atenção Terciária , Ferro , Talassemia/epidemiologia , Talassemia/terapia , Sobrecarga de Ferro/patologia , Ferritinas
6.
Pediatr Blood Cancer ; 70(10): e30599, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37488065

RESUMO

INTRODUCTION: Management of transfusion-dependent thalassemia (TDT) can be challenging due to numerous potential disease-related complications and comorbidities in particular age groups. The objective of this study was to report thalassemia-related complications and risk factors in pediatric, adolescent, and young adult patients with TDT. METHODS: A multicenter web-based registry was conducted in patients with TDT aged 25 years and younger from eight university hospitals covering all parts of Thailand. Factors significantly associated with each complication were analyzed by logistic regression methods. RESULTS: Of 605 patients, 267 thalassemia-related complications were reported from 231 pediatric, adolescent, and young adult patients with TDT patients (38.2%). The most common complications were infections, followed by cholelithiasis and growth failure. Splenectomy and elevated pre-transfusion hemoglobin were statistically significant risk factors for infections (adjusted odds ratio [AOR] = 2.3, 95% confidence interval [CI]: 1.2-4.5, p-value = .01 and AOR = 1.5, 95% CI: 1.2-1.7, p-value < .005, respectively). There were two statistically significant risk factors conferred endocrinopathies, including older age (AOR = 1.06, 95% CI: 1.01-1.1, p-value = .01) and being male (AOR = 2.4, 95% CI: 1.4-4.0, p-value = .002). CONCLUSION: Nearly 40% of the patients in this cohort had thalassemia-related complications. Periodic surveillance and optimal care for respective complications may minimize comorbidities in pediatric, adolescent, and young adult patients with TDT.


Assuntos
Doenças do Sistema Endócrino , Talassemia , Humanos , Criança , Masculino , Adolescente , Adulto Jovem , Feminino , Tailândia/epidemiologia , Talassemia/complicações , Talassemia/epidemiologia , Talassemia/terapia , Fatores de Risco , Comorbidade
7.
Transplant Cell Ther ; 29(5): 329.e1-329.e7, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36690277

RESUMO

In hemoglobinopathy-prone regions, like the Middle East, thalassemia is the most prevalent noncommunicable life-threatening disorder of children and is highly curable by hematopoietic stem cell transplantation (HSCT). Moreover, transplantation is very cost-effective, and HSCT programs can be established directly in middle-income countries (MICs) at a reduced cost while maintaining quality standards and outcomes consistent with international ones. The aim of the present study was to review and verify the efficacy of the applied methodology through the analysis of 47 consecutive matched-related HSCTs in children with thalassemia. In 2016, the first HSCT unit for adults and children with both malignant and nonmalignant diseases was developed in Iraqi Kurdistan, thanks to a capacity building project funded by the Italian Agency for Development Cooperation. Data on clinical activity were obtained from a cohort of patients treated in the newly established HSCT unit. Primary endpoints were overall survival (OS) and thalassemia-free survival (TFS). Startup of the HSCT unit was completed over a 3-year period. Assessing and meeting minimum requirements were crucial for the startup; moreover, a team of international health care professionals (HCPs), all experts in the field of HSCT, conducted the education and training phase, involving all the clinical and nonclinical professionals in the program. At a median follow-up of 2.6 years, the 3-year TFS and OS were 82.8% (SE, 5.5%) and 87.1% (SE, 4.9%), respectively. TFS and graft-versus-host-disease-free composite survival was 80.6% (SE, 5.8%). At present, the HSCT service is completely autonomous, and more than 250 transplants have been done in both adults and children. The minimal essential requirements for an HSCT startup may be affordable in many MICs. Our results for thalassemia are comparable with international data. A twinning program with an international group of experts and a capacity-building approach is crucial for the success of the program, a strategy that allows for rapid development of HSCT units.


Assuntos
Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Hemoglobinopatias , Talassemia , Criança , Adulto , Humanos , Iraque/epidemiologia , Talassemia/epidemiologia , Talassemia/terapia , Talassemia/etiologia , Hemoglobinopatias/etiologia , Hemoglobinopatias/terapia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos
8.
Hemoglobin ; 46(1): 33-35, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35950576

RESUMO

Guangxi Province is located in the southwest of the People's Republic of China (PRC). The province has a population of 50.12 million with a birth rate of 13.31%. Thalassemia is a major health problem in Guangxi Province. About 20.0-25.0% of the population carries thalassemia genes, which is acknowledged to be the highest prevalence in China. National and provincial programs for thalassemia prevention and control have been introduced. Premarital screening and prenatal diagnosis (PND) for the prevention of thalassemic fetuses are available. Blood transfusions, iron chelation therapy, and stem cell transplantation are also available for transfusion-dependent thalassemic patients.


Assuntos
Talassemia , China/epidemiologia , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal , Prevalência , Talassemia/diagnóstico , Talassemia/epidemiologia , Talassemia/terapia
9.
Hemoglobin ; 46(1): 12-14, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35950582

RESUMO

The estimated population of Pakistan is approximately 225,633,392 (225 million). The healthcare delivery system of Pakistan is complex because it includes healthcare subsystems operated by both the federal government and the provincial government. In Pakistan ß-thalassemia (ß-thal) trait frequency ranges between 5.0-7.0%, thus, there are more than 10 million carriers in the country; and every year, around 5000 children are diagnosed to carry ß-thal major (ß-TM) in Pakistan. No standard management protocols exist and blood transfusion remains the mainstay of management. Most of the population belong to the lower socioeconomic strata, family units are large and therefore cannot afford to pay for treatment and management of their thalassemic child. Currently in Pakistan, at the national level, not a single thalassemia prevention program is available to counter this disease. However, at the provincial level some initiatives have been taken, legislation has been approved for premarital screening in Sindh, Khyber Pakhtunkhwa (KPK) and Baluchistan, but implementation remains the issue.


Assuntos
Talassemia , Talassemia beta , Criança , Heterozigoto , Humanos , Programas de Rastreamento , Paquistão/epidemiologia , Talassemia/diagnóstico , Talassemia/epidemiologia , Talassemia/terapia , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia , Talassemia beta/genética
10.
Hemoglobin ; 46(1): 20-26, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35950587

RESUMO

Management and control of hemoglobinopathies are a challenge in India where 67.0% of people reside in rural regions. The GDP spent on health is one of the lowest (1.3%) resulting in high out-of-pocket expenses. The ß-thalassemias are prevalent with an estimated 7500-12000 new births each year. Hb S (HBB: c.20A>T) and Hb E (HBB: c.79G>A) are also common regionally. Over 80 ß-thalassemia (ß-thal) mutations have been characterized in Indians. The δ gene mutations are increasingly being described and their coinheritance in ß-thal carriers leads to a reduction in Hb A2 levels and a misdiagnosis of carriers. Around 15-20 centers offer prenatal diagnosis (PND) mainly in urban regions. The projected annual cost of care of ß-thal patients over a decade (2016-2026) will increase from INR30,000 (US$448) million to INR55,000 (US$820) million if all patients are adequately treated. Cost comparisons are difficult to make with other international studies as the standard of care, cost of medicines and other services vary in different countries. Several centers provide hematopoietic stem cell transplants (HSCTs) for thalassemias, however, only around 250 HSCTs are done annually. Although the cost is high, financial assistance is available for a few patients. There are disparities in the quality of care and to address this a National Policy has been proposed for the management and prevention of hemoglobinopathies that will embark on a comprehensive program, providing adequate care and augmenting the existing public health care services. It will also include training, genetic counseling and easier access to preventive options and a National Registry.


Assuntos
Hemoglobinopatias , Talassemia , Talassemia beta , Feminino , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/epidemiologia , Hemoglobinopatias/genética , Heterozigoto , Humanos , Índia/epidemiologia , Mutação , Gravidez , Talassemia/diagnóstico , Talassemia/epidemiologia , Talassemia/genética , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia , Talassemia beta/genética
11.
Hemoglobin ; 46(1): 53-57, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35950590

RESUMO

Thailand has a population of 66.2 million with 30.0-40.0% of them carrying thalassemia genes. Interaction of these thalassemia genes lead to more than 60 genotypes with a wide spectrum of clinical severity from asymptomatic to lethal. Estimation based on gene frequencies and number of babies born each year, there will be about 1.2% babies born with severe cases of thalassemia each year. Further estimation revealed that 1.0% of the Thai population have thalassemia disease, which is a big health problem for the country. Thalassemia prevention and control programs were introduced using post conception screening in couples and prenatal diagnosis (PND) for the prevention of new thalassemic births. Moreover, the majority of existing cases are undergoing supportive treatment with regular blood transfusions and iron chelation. Curative treatment by hematopoietic stem cell transplantation (HSCT) is available but is limited to a minority of the patients.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Talassemia , Transfusão de Sangue , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal , Tailândia/epidemiologia , Talassemia/diagnóstico , Talassemia/epidemiologia , Talassemia/genética
12.
J Trop Pediatr ; 68(4)2022 06 06.
Artigo em Inglês | MEDLINE | ID: mdl-35708565

RESUMO

OBJECTIVES: To study the prevalence of anemia among healthy infants, and outcomes of giving a therapeutic trial of iron to anemic infants in thalassemia-endemic area. METHODS: A cross sectional study was conducted in 6-9-month-old, full-term healthy infants who attended the well child clinics at 2 tertiary care centers in southern Thailand. Complete blood count and serum ferritin were performed in every infant, and hemoglobin typing was performed only in anemic cases. All anemic infants were given a therapeutic trial of iron and categorized into either; iron responder (hemoglobin increased ≥ 1 g/dL) or iron non-responder (hemoglobin increased <1 g/dL) groups after one month of the therapeutic trial. Mean levels of hematological parameters, including the Mentzer index, were compared within the groups. RESULTS: A total of 620 infants were included in the study. From this, 230 infants (37%) were anemic for which iron deficiency contributed for 80% of the etiology. The iron responder group showed significant improvement in hematological parameters after a trial of iron, while there was no improvement in the iron non-responder group. Among iron responders, there were 31 out of 186 infants (16.6%) who had coexisting abnormal hemoglobin typing, and their post-treatment complete blood count still showed a mean corpuscular volume < 70, with a Mentzer index < 13. CONCLUSION: Iron deficiency remains a major cause of anemia among infants, and a therapeutic trial of iron is beneficial in this age group, even though thalassemia trait/hemoglobinopathy can co-exist.


Assuntos
Anemia Ferropriva , Deficiências de Ferro , Talassemia , Talassemia beta , Anemia Ferropriva/diagnóstico , Anemia Ferropriva/epidemiologia , Anemia Ferropriva/etiologia , Estudos Transversais , Hemoglobinas/análise , Humanos , Lactente , Ferro/uso terapêutico , Talassemia/diagnóstico , Talassemia/epidemiologia , Talassemia beta/complicações
13.
Dement Geriatr Cogn Disord ; 51(2): 128-134, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35320801

RESUMO

INTRODUCTION: Patients with thalassemia increase the risk of developing cognitive impairment. Chronic anemia, oxidative stress from excess iron, and hypercoagulable state were related to this condition. The study regarding its prevalence and the associated factor in Southeast Asia is limited. Therefore, the study aimed to investigate the prevalence of cognitive impairment and associated factors. METHODS: This was a cross-sectional study of thalassemic patients aged 18 years or more at the Hematology Clinic of Srinagarind Hospital, Khon Kaen University, Thailand, from January to May 2021. The Thai version of the Mini-Cog test was used to determine the presence of cognitive impairment. The clinical and laboratory parameters indicated as potential risk factors for dementia were evaluated in all patients. A stepwise logistic regression analysis was used to determine the associated risk factors for cognitive impairment. RESULTS: Among 150 patients, cognitive impairment was found in 40 patients (26.7%). Age per 10-year increase (adjusted odds ratio [AOR] of 1.6), no iron chelation therapy (AOR of 9.8), current smoking (AOR of 5.0), hemoglobin (Hb) (AOR of 0.63), and ferritin (AOR of 1.0001) were independent factors associated with cognitive impairment. CONCLUSIONS: The prevalence of cognitive impairment was high among thalassemic patients. Increasing age, low Hb, iron overload, and current smoking were significant associated factors with cognitive impairment. Screening for dementia in these patients is recommended, particularly in patients with high-risk factors.


Assuntos
Disfunção Cognitiva , Demência , Talassemia , Disfunção Cognitiva/epidemiologia , Estudos Transversais , Humanos , Tailândia/epidemiologia , Talassemia/complicações , Talassemia/tratamento farmacológico , Talassemia/epidemiologia
15.
Int J Hematol ; 113(4): 556-565, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33385291

RESUMO

Data on chronic graft-versus-host disease (cGVHD) in patients with thalassemia after hematopoietic stem cell transplantation (HSCT) have not been specifically explored. The present study aimed to determine the incidence and clinical manifestations of cGVHD in children and adolescents with thalassemia who underwent HSCT and to compare healthcare utilization and medical cost between patients with and without cGVHD. We retrospectively analyzed the presentations, treatments, and outcomes of historical cGVHD (Seattle criteria), post-transplant admissions and direct medical cost for HSCT patients (n = 66). We used the 2014 NIH consensus criteria to reclassify the diagnosis of cGVHD (NIH cGVHD). Among 28 historical cGVHD patients, 13 (46.4%) fulfilled the NIH criteria. Reasons why the NIH criteria were unmet were reclassification as late acute GVHD and presence of distinctive signs without confirmatory tests. At 2 years after HSCT, the cumulative incidence of NIH cGVHD was 21.67% (95% CI, 12.31-32.74%). Lung cGVHD was associated with inferior survival with a hazard ratio of 13.6 (95% CI, 1.42-131.48). Patients with historical cGVHD had significantly increased frequency of inpatient admissions and medical cost. In conclusion, cGVHD was common in children with thalassemia receiving HSCT. Patients with cGVHD required prolonged immunosuppressive treatment and incurred high medical expenses.


Assuntos
Doença Enxerto-Hospedeiro/epidemiologia , Doença Enxerto-Hospedeiro/etiologia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Talassemia/complicações , Talassemia/epidemiologia , Adolescente , Biópsia , Criança , Pré-Escolar , Doença Crônica , Feminino , Doença Enxerto-Hospedeiro/diagnóstico , Doença Enxerto-Hospedeiro/prevenção & controle , Custos de Cuidados de Saúde , Pesquisas sobre Atenção à Saúde , Transplante de Células-Tronco Hematopoéticas/métodos , Humanos , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Masculino , Especificidade de Órgãos , Aceitação pelo Paciente de Cuidados de Saúde , Prognóstico , Tailândia/epidemiologia , Talassemia/terapia , Doadores de Tecidos , Condicionamento Pré-Transplante/efeitos adversos , Condicionamento Pré-Transplante/métodos , Resultado do Tratamento
16.
Int J Lab Hematol ; 43(4): 866-872, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33404202

RESUMO

INTRODUCTION: Thalassaemia trait (TT) is potential to be missed clinically, especially normocytic thalassaemia. We aimed to establish discriminant functions (DFs) and an algorithm for detecting microcytic or normocytic TT in epidemiological screening. METHODS: The receiver operating characteristics (ROC) curve analysis was used to determine the diagnostic performance of the proposed formulas in differentiating TT and nonthalassaemia (non-TT). DFs combined the two blood count parameters with the highest performance, based on the area under the curve (AUC) value, into mathematical formulas, using logistic regression. The diagnostic efficacy of DFs was subsequently evaluated in 761 participants, and reliability (including adjusted agreement [AA] and Kappa values) and validity (including sensitivity, specificity, likelihood ratio and Youden's Index) were calculated. RESULTS: Among microcytic participants, the proposed DFs showed good diagnostic performance (in females: AUC = 0.892 [DF1 = 0.015 × RDW-CV/RBC - 0.096 × RDW-SD/RBC + 1.29], in males: AUC = 0.861 [DF2=-0.025 × RDW-SD/RBC - 0.035 × MCV/RBC + 1.415]). Youden's Index, AA and Kappa values for microcytic TT detection were 0.72, 0.86, and 0.72 and 0.63, 0.81 and 0.63 for females and males, respectively. In normocytic participants with RDW-CV/RBC ≤ 3.54, DF3=-0.38 × MCH-0.02 × MCHC+17.37 achieved AUC = 0.857 in females, whereas DF4 = 0.007 × MCV-0.113 × MCH+2.829 achieved AUC = 0.969 in males. The Youden's Index, AA and Kappa values for the proposed DFs for thalassaemia detection were 0.69, 0.84 and 0.67 in females, 0.76, 0.91 and 0.71 in males, respectively. CONCLUSION: The proposed DFs performed well in the detection of TT among participants with microcytic and normocytic parameters and could be utilized in epidemiological study for TT.


Assuntos
Talassemia/diagnóstico , Algoritmos , Contagem de Células Sanguíneas , China/epidemiologia , Índices de Eritrócitos , Feminino , Humanos , Masculino , Programas de Rastreamento , Talassemia/sangue , Talassemia/epidemiologia
17.
BMC Gastroenterol ; 20(1): 409, 2020 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-33297979

RESUMO

BACKGROUND: Hepatocellular carcinoma as a complication is linked to improved outcomes of thalassemia. MAIN BODY: Published data suggest an incidence of HCC in thalassemia of about 2%. However, since thalassemia is endemic in many under-developed countries where patients have not probably been screened for HCC yet, the burden of the disease could be higher. Prevention of HCV infection through blood transfusion, HCV treatment and adequate iron chelation are all tools to prevent HCC in thalassemia. In presence of risk factors, HCC screening seems appropriate for thalassemia. Management of HCC should not be different from that indicated for non thalassemics. However, liver transplantation can be challenging and should be reserved to highly selected cases, due to coexistence of relevant comorbidities. Decisions in the management of HCC in thalassemia should follow a multidisciplinary effort. Moreover, due to the paucity of published data about the issue, future multicenter international studies will be helpful. SHORT CONCLUSION: In BMC Gastroenterology results of a commendable effort to guidelines for the management of HCC in thalassemia are reported by an Italian panel of experts. However, due to the paucity of published data about the topic, some conclusions rely on grey areas and are reason of debate.


Assuntos
Carcinoma Hepatocelular , Neoplasias Hepáticas , Talassemia , Carcinoma Hepatocelular/epidemiologia , Carcinoma Hepatocelular/etiologia , Carcinoma Hepatocelular/terapia , Medicina Baseada em Evidências , Humanos , Itália , Cirrose Hepática , Neoplasias Hepáticas/etiologia , Neoplasias Hepáticas/terapia , Fatores de Risco , Talassemia/complicações , Talassemia/epidemiologia , Talassemia/terapia
18.
Transfus Med ; 30(6): 456-466, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33103306

RESUMO

OBJECTIVES: To establish, in an unselected population of London haemoglobinopathy patients, transfusion requirements, blood antigens/alloantibodies, transfusion modalities, burden of transfusion reactions and donor exposure. BACKGROUND: Haemoglobinopathy patients are among the most highly transfused patient populations, and the overall population and number of patients on long-term transfusion programmes are increasing. To provide a safe and efficacious transfusion service for patients, it is important to understand current practice, morbidity associated with transfusion, efficacy of different transfusion modalities and geno-/phenotype requirements. METHODS: Data on 4451 transfusion episodes in 760 patients from 12 London hospitals were collected retrospectively over a 6-month period in 2011. RESULTS: Alloimmunisation prevalence was 17% for sickle cell disease (SCD) and 22% for thalassaemia, most commonly anti-Rh/Kell/Kpa /Cw . Rh phenotypes differed between SCD (Ro r 59.8%/R1 r 15.9%/R2 r 15.6%) and thalassaemia (R1 R1 29.6%/R1 r 28.4%/R1 R2 15.4%). Recording of pheno-/genotypes fell below recommendations. A 2-weekly manual exchange and 3-weekly automated exchange came closest to achieving presumptive targets. In adults with thalassaemia, the mean blood requirement was 36 units per year; for SCD, erythrocytapheresis was carried out every 7 weeks with 66 units; for manual exchange, it was 38 units every 4 weeks; and for simple transfusion, it was 30 units p.a. every 4 weeks. CONCLUSION: Transfusion modality choice was influenced by the resources available-children mostly received simple transfusions, and adults received erythrocytapheresis; the relationships between frequency of exchanges/transfusion modality/target HbA% were not simple, possibly reflecting the difference in recipient erythropoiesis and consequent transfusion modality selection bias; adherence to existing and current guidelines regarding geno-/phenotyping was limited; and alloimmunisation had a low incidence and high prevalence in both disorders.


Assuntos
Anemia Falciforme , Citaferese , Transfusão Total , Talassemia , Adolescente , Adulto , Anemia Falciforme/sangue , Anemia Falciforme/epidemiologia , Anemia Falciforme/terapia , Criança , Feminino , Humanos , Londres/epidemiologia , Masculino , Prevalência , Estudos Retrospectivos , Talassemia/sangue , Talassemia/epidemiologia , Talassemia/terapia
19.
Prenat Diagn ; 40(8): 998-1004, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32356374

RESUMO

OBJECTIVE: To assess the outcome of a thalassemia screening program at community hospitals by determining the proportion of at-risk couples able to obtain a prenatal diagnosis (PND) in relation to gestational age (GA). METHODS: We accessed records documenting prenatal screening for thalassemia in lower northern Thailand between January 2014 and December 2016. The proportion of at-risk pregnancies able to obtain a PND was determined and median GAs at the time of at-risk notification were compared. Reasons for failures to obtain PNDs were analyzed. RESULTS: Among 4633 screen-positive couples, 259 (5.6%) were identified as at-risk while 23 were excluded due to unconfirmed outcomes. Forty-one declined a PND and were excluded from the final calculations. Of the 195 remaining couples, 140 (71.8%) obtained a PND. Their median GA at the time of at-risk notification was 12.4 (5.6-29.1) weeks, which was earlier than the median GA of 17.7 (6.9-34.6) weeks for couples not undergoing PND (P < .001). Risks for various types of thalassemia and GA were associated with the chances of achieving a PND. CONCLUSION: In practice, one quarter of couples identified as at-risk were unable to obtain a PND. Time-influencing factors seem to be a major determinant.


Assuntos
Diagnóstico Pré-Natal , Talassemia/diagnóstico , Adulto , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Programas de Rastreamento/organização & administração , Programas de Rastreamento/estatística & dados numéricos , Programas Nacionais de Saúde/organização & administração , Gravidez , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/estatística & dados numéricos , Medicina Preventiva/organização & administração , Avaliação de Programas e Projetos de Saúde , Fatores de Risco , Tailândia/epidemiologia , Talassemia/epidemiologia , Fatores de Tempo , Adulto Jovem
20.
Lab Med ; 51(5): 498-506, 2020 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-32052840

RESUMO

OBJECTIVE: To establish a new indicator derived from reticulocyte hemoglobin (Ret-He) content and red blood cell (RBC) indices for screening for iron deficiency anemia (IDA) in an area in whch thalassemia is prevalent. METHODS: Blood specimens from 304 women aged between 18 and 30 years residing in northeast Thailand were collected and measured for RBC and reticulocyte parameters. Iron deficiency was diagnosed when a participant had a serum ferritin level of less than 15 ng per mL. Thalassemia genotypes were defined by hemoglobin (Hb) and DNA analyses. RESULTS: Of the total participants, 25% had iron deficiency (ID) and 50% carried the thalassemia gene. Various mathematical formulas were established and analyzed using the receiver operating characteristic (ROC) curve. The formula derived from Ret-He: (Ret-He/RDW-SD) × 10, was the best predictor for identifying ID among participants (area under the curve [AUC] = 0.812). Further testing of this indicator among individuals with positive thalassemia-screening results revealed stronger performance with an AUC of 0.874. CONCLUSIONS: The findings indicate that the formula derived from Ret-He might be applicable for screening ID in areas in which thalassemia is prevalent.


Assuntos
Anemia Ferropriva/sangue , Hemoglobinas/análise , Reticulócitos/química , Talassemia/sangue , Adolescente , Adulto , Anemia Ferropriva/diagnóstico , Anemia Ferropriva/epidemiologia , Estudos de Casos e Controles , Feminino , Humanos , Contagem de Reticulócitos , Tailândia/epidemiologia , Talassemia/complicações , Talassemia/epidemiologia , Adulto Jovem
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