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1.
Braz. j. biol ; 83: e246062, 2023. tab, graf
Artigo em Inglês | MEDLINE, LILACS, VETINDEX | ID: biblio-1339355

RESUMO

Abstract A group of inherited blood defects is known as Thalassemia is among the world's most prevalent hemoglobinopathies. Thalassemias are of two types such as Alpha and Beta Thalassemia. The cause of these defects is gene mutations leading to low levels and/or malfunctioning α and β globin proteins, respectively. In some cases, one of these proteins may be completely absent. α and β globin chains form a globin fold or pocket for heme (Fe++) attachment to carry oxygen. Genes for alpha and beta-globin proteins are present in the form of a cluster on chromosome 16 and 11, respectively. Different globin genes are used at different stages in the life course. During embryonic and fetal developmental stages, γ globin proteins partner with α globin and are later replaced by β globin protein. Globin chain imbalances result in hemolysis and impede erythropoiesis. Individuals showing mild symptoms include carriers of alpha thalassemia or the people bearing alpha or beta-thalassemia trait. Alpha thalassemia causes conditions like hemolytic anemia or fatal hydrops fetalis depending upon the severity of the disease. Beta thalassemia major results in hemolytic anemia, growth retardation, and skeletal aberrations in early childhood. Children affected by this disorder need regular blood transfusions throughout their lives. Patients that depend on blood transfusion usually develop iron overload that causes other complications in the body systems like renal or hepatic impairment therefore, thalassemias are now categorized as a syndrome. The only cure for Thalassemias would be a bone marrow transplant, or gene therapy with currently no significant success rate. A thorough understanding of the molecular basis of this syndrome may provide novel insights and ideas for its treatment, as scientists have still been unable to find a permanent cure for this deadly disease after more than 87 years since it is first described in 1925.


Resumo Um grupo de defeitos sanguíneos hereditários é conhecido como talassemia e está entre as hemoglobinopatias mais prevalentes do mundo. As talassemias são de dois tipos, como talassemia alfa e beta. As causas desses defeitos são as mutações genéticas que levam a níveis baixos e/ou proteínas de globina com mau funcionamento, respectivamente. Em alguns casos, uma dessas proteínas pode estar completamente ausente. As cadeias de globina α e β formam uma dobra ou bolsa de globina para a fixação de heme (Fe ++) para transportar oxigênio. Os genes das proteínas alfa e beta globina estão presentes na forma de um cluster nos cromossomos 16 e 11, respectivamente. Diferentes genes de globina são usados ​​em diferentes estágios do curso de vida. Durante os estágios de desenvolvimento embrionário e fetal, as proteínas γ globina se associam à α globina e, posteriormente, são substituídas pela proteína β globina. Os desequilíbrios da cadeia de globina resultam em hemólise e impedem a eritropoiese. Indivíduos que apresentam sintomas leves incluem portadores de talassemia alfa ou as pessoas com traços de talassemia alfa ou beta. A talassemia alfa causa condições como anemia hemolítica ou hidropsia fetal fatal, dependendo da gravidade da doença. A beta talassemia principal resulta em anemia hemolítica, retardo de crescimento e aberrações esqueléticas na primeira infância. As crianças afetadas por esse distúrbio precisam de transfusões de sangue regulares ao longo da vida. Os pacientes que dependem de transfusão de sangue geralmente desenvolvem sobrecarga de ferro que causa outras complicações nos sistemas do corpo, como insuficiência renal ou hepática, portanto as talassemias agora são classificadas como uma síndrome. A única cura para as talassemias seria um transplante de medula óssea ou terapia genética sem atualmente uma taxa de sucesso significativa. Uma compreensão completa da base molecular dessa síndrome pode fornecer novos insights e ideias para seu tratamento, já que os cientistas ainda não conseguiram encontrar uma cura permanente para essa doença mortal depois de mais de 87 anos desde que foi descrita pela primeira vez em 1925.


Assuntos
Humanos , Pré-Escolar , Talassemia/genética , Talassemia beta/genética , Hemoglobinas
2.
Recurso na Internet em Português | LIS - Localizador de Informação em Saúde | ID: lis-48781

RESUMO

As talassemias são um grupo de doenças hereditárias crônicas que se caracterizam pela redução ou ausência de hemoglobina – substância dos glóbulos vermelhos do sangue responsável pelo transporte de oxigênio para todo o corpo


Assuntos
Talassemia/diagnóstico , Diagnóstico Precoce , Anemia/diagnóstico
3.
J Assoc Physicians India ; 70(4): 11-12, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35443532

RESUMO

Iron overload occurs as a result of multiple blood transfusions and increased iron absorption in thalassemia patients. Iron deposition in liver results in liver stiffness and fibrosis. Non invasive methods including imaging and serum biomarkers have been introduced for assessment of liver fibrosis. We aimed to study liver stiffness using transient elastography and serum hyaluronic acid levels and correlate them with serum ferritin levels in adult transfusion dependent beta thalassemia patients. MATERIAL: 70 transfusion dependent thalassemia patients of age ≥18 years, registered at Thalassemia Day Care Centre were subjected to investigations like CBC, Liver function tests, viral markers, serum ferritin, serum hyaluronic acid levels and transient elastography. Fibrosis indices like FIB-4, AAR and APRI were also calculated. 45 patients had T2*MRI reports with them; which were also included and analysed. Spearman coefficient r was used to test correlations between TE values and serum HA levels with other variables. OBSERVATION: 70 patients (41 male and 29 female) with mean age of 24.09±5.38 years and BMI 20.51 ±3.47 kg/m², were enrolled. Median values of hemoglobin, AST, ALT, TE, serum HA and serum ferritin were, 9.15 g/dl, 42 IU/L, 47.50 IU/L, 9.1 kPa, 284 ng/dl and 1841 ng/ml, respectively . TE values had significant positive correlation with serum ferritin (r=0.5, p < 0.001), ALT (r=0.59, p < 0.001), AST (r=0.58, p< 0.001), APRI (r=0.5, p<0.001) and FIB-4 (p=0.02), respectively and significant negative correlation with T2* MRI (ms) (r= -0.5, p<0.001). No significant correlation of HA was found with any variable. CONCLUSION: Transient elastography can be used as a non expensive, easily accessible and non invasive marker of liver iron overload. Further detailed studies are required to establish the role of serum Hyaluronic acid in thalassemia patients.


Assuntos
Técnicas de Imagem por Elasticidade , Sobrecarga de Ferro , Talassemia , Adolescente , Adulto , Biomarcadores , Técnicas de Imagem por Elasticidade/métodos , Feminino , Ferritinas , Fibrose , Humanos , Ácido Hialurônico , Ferro/metabolismo , Sobrecarga de Ferro/diagnóstico por imagem , Sobrecarga de Ferro/etiologia , Sobrecarga de Ferro/patologia , Fígado/diagnóstico por imagem , Cirrose Hepática , Masculino , Talassemia/patologia , Talassemia/terapia , Adulto Jovem
4.
Niger J Clin Pract ; 25(4): 490-495, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35439909

RESUMO

Background and Aim: Sickle cell syndrome is a group of inherited hematological disorders with varying degrees of anemia, jaundice, fatiguability along with hepatomegaly and splenomegaly. The clinical presentations can be may vary and therefore require thorough investigations. We tried to evaluate the spectrum of sickle cell anemia and thalassemia in pediatric patients of our hospital. Patients and Methods: In this cross-sectional study, A total of n = 200 consecutive cases were detected during the period of study. A thorough history and detailed clinical examination were done. Hb electrophoresis was done in the present study using HYDRASYS ® Electrophoresis Systems from Sebia. Results: The overall prevalence of SCD in our study was 6.83% the existence of this is found to be greater in the males as compared to females which is in agreement with prevalence across India with more male than female. Thalassemia was prevalent at the rate of 3.96%, sickle cell anemia had a prevalence of 1.98% sickle thalassemia was 0.89%. N = 20 pairs of Parents recognized genetic counseling i.e., with a single child or who wanted further children readily underwent HPLC analysis. Conclusion: The existence of SCD in our study group is lesser as compared to the South India average. Preventive programs consisting of public education, population screening, genetic counseling, and prenatal diagnosis have been very effective in reducing both rates of ß-Thalassemia major. Sickle cell anemia is of prime importance because of its high prevalence, morbimortality and the absence of curative treatments.


Assuntos
Anemia Falciforme , Talassemia , Talassemia beta , Anemia Falciforme/complicações , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Criança , Estudos Transversais , Feminino , Hepatomegalia , Humanos , Índia/epidemiologia , Masculino , Gravidez , Prevalência , Talassemia/complicações , Talassemia/epidemiologia , Talassemia beta/epidemiologia
5.
J Biomed Nanotechnol ; 18(2): 405-421, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-35484760

RESUMO

Several diseases are characterized by changes in the mechanical properties of erythrocytes. Hemolytic anemias are an example of these diseases. Among the hemolytic anemias, Sickle Cell Disease and Thalassemia are the most common, characterized by alterations in the structure of their hemoglobin. Sickle cell disease has a pathological origin in synthesizing abnormal hemoglobin, HbS. In contrast, thalassemia results in extinction or decreased synthesis of α and ß hemoglobin chains. This work presents a detailed study of biophysical and ultrastructural early erythrocytes membrane alterations at the nanoscale using Atomic Force Microscopy (AFM). Cells from individuals with sickle cell anemia and thalassemia mutations were studied. The analysis methodology in the AFM was given by blood smear and exposure of the inner membrane for ghost analysis. A robust statistic was used with 65,536 force curves for each map, ten cells of each type, with three individuals for each sample group. The results showed significant differences in cell rigidity, adhesion, volume, and roughness at early morphological alterations, bringing new perspectives for understanding pathogenesis. The sickle cell trait (HbAS) results stand out. Significant alterations were observed in the membrane properties, bringing new perspectives for the knowledge of this mutation. This work presents ultrastructural and biomechanical signatures of sickle cell anemia and thalassemia genotypes, which may help determine a more accurate biophysical description and clinical prognosis for these diseases.


Assuntos
Anemia Falciforme , Talassemia , Anemia Falciforme/genética , Anemia Falciforme/metabolismo , Eritrócitos/metabolismo , Hemoglobinas/metabolismo , Humanos , Talassemia/genética , Talassemia/metabolismo
7.
J Healthc Eng ; 2022: 5642907, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35392140

RESUMO

In order to verify the applicability of the erythrocyte fragility test (EFT) carried out by the new fully automatic erythrocyte permeability fragility analyzer RA-800 for thalassemia screening, a total of 100 cases of suspected thalassemia patients who underwent pregnancy examinations at Luohu District People's Hospital are included. The results of a new automatic erythrocyte permeability fragility analyzer RA-800 are compared with the results of the detection system composing of the KOFA erythrocyte fragility test kit currently used in clinical laboratories. The diagnosis confirmed by genetic testing is used as the gold standard to evaluate the applicability of RA-800. The sensitivity, specificity, and accuracy of the new automatic erythrocyte permeability fragility analyzer RA-800 screening for thalassemia were 66.67%, 92.86%, and 85.00%. The KOFA direct colorimetries are 76.67%, 81.43%, and 80.00%. The kappa value for the screening of thalassemia was 0.558, which concludes that the consistency was moderate. The ROC curve indicates that both two methods had diagnostic significance for the diagnostic value of thalassemia. The new automatic erythrocyte permeability fragility analyzer RA-800 is suitable for thalassemia screening, and the performance indexes meet the clinical requirements.


Assuntos
Índices de Eritrócitos , Talassemia , Eritrócitos , Feminino , Humanos , Fragilidade Osmótica , Permeabilidade , Gravidez , Sensibilidade e Especificidade , Talassemia/diagnóstico
8.
Int J Immunopathol Pharmacol ; 36: 3946320221096909, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35452334

RESUMO

BACKGROUND: Thalassemia is a hereditary hemolytic anemia marked by a defect in synthesizing one or more globin chains in hemoglobin. In Pakistan, approximately 10,000 patients with thalassemia are primarily dependent on blood transfusions. The ß-thalassemia patients require blood transfusions and iron chelation therapy. Patients who need blood transfusions are at an increased risk of contracting transfusion-transmitted infections (TTIs) such as hepatitis B and C viruses (HBV and HCV, respectively), as well as the human immunodeficiency virus (HIV). OBJECTIVE: This systemic review aims to assess the prevalence of TTIs in transfusion-dependent ß-thalassemia patients in Asia. METHODS: The data for the systematic review were gathered from PubMed, Google Scholar, the Directory of Open Access Journals (DOAJ), and ScienceDirect using the following keywords: "prevalence, HBV, HCV, HIV, thalassemia, and transfusion-transmitted infections (TTIs)," and so on. This review includes the research articles that address the prevalence of viral infections in thalassemic patients following blood transfusion. RESULTS: A preliminary search of various databases identified 231 potential studies. 157 duplicate studies were eliminated, and the eligibility of 59 full-length articles was determined. Only 43 studies met the inclusion criteria. Among the 43 studies analyzed, 11 reported a high prevalence of HCV alone in thalassemic patients, while 21 reported a high prevalence of HCV and HBV infection in thalassemic patients. Eight studies reported the prevalence of all three TTIs examined, namely, HCV, HBV, and HIV, in patients with transfusion-dependent thalassemia. CONCLUSION: Preventable transfusion-transmitted infections occur frequently, and robust national policies and hemovigilance are required to detect and mitigate the infection risk.


Assuntos
Infecções por HIV , Hepatite C , Talassemia , Reação Transfusional , Talassemia beta , Transfusão de Sangue , Infecções por HIV/diagnóstico , Infecções por HIV/epidemiologia , Hepatite C/epidemiologia , Humanos , Paquistão , Prevalência , Talassemia/epidemiologia , Talassemia/terapia , Reação Transfusional/epidemiologia
9.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 30(2): 534-538, 2022 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-35395992

RESUMO

OBJECTIVE: To analyze the clinical efficacy of haploidentical hematopoietic stem cell transplantation (haplo-HSCT) by using parental donors on thalassemia patients. METHODS: The 13 thalassemia patients treated by haplo-HSCT using parental donors in our hospital from July 1, 2016, to July 1, 2020 were retrospectively reviewed. Hematopoiesis reconstitution, the incidence of GVHD, infections and the long-term survival of the patients were analyzed. RESULTS: Twelve of the 13 patients were successfully implanted, the success rate of implantation was 92.3%. The median time of neutrophil and platelet engraftment was 12.5 days (range, 9-22 days) and 21 days (range,12-34 days), respectively. One patient achieved primary graft failure. Three (25%) patients developed to acute GVHD (aGVHD) and achieved complete remission after treatment. Chronic GVHD developed in three (25%) patients, one of them was extensive and under treatment, while one patient developed to severe bacterial infection (7.7%). CMV viremia was diagnosed in two patients (15.4%). There were no patients developed to CMV disease. Three (23.1%) patients achieved EB viremia after transplantation, one of them developed to EBV-related lymphocytic proliferative disease, while there were no patients showed invasive fungal infection. At the last follow-up, all patients survived, twelve of them were free from transfusion dependency. There were no transplant-related deaths. Projected overall and thalassemia-free survival at three years was 100% and 92.3%, respectively. CONCLUSION: The transplant protocol of haplo-HSCT by using parental donors in patients with thalassemia has reliable source of donors, high incidence of successful implantation and low incidence of GVHD, which can be used as an effective way to increase the source of donors in children with thalassemia.


Assuntos
Infecções por Citomegalovirus , Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Talassemia , Criança , Humanos , Pais , Estudos Retrospectivos , Talassemia/terapia , Condicionamento Pré-Transplante/métodos , Resultado do Tratamento , Viremia
10.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 30(2): 539-542, 2022 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-35395993

RESUMO

OBJECTIVE: To investigate the difference of therapeutic effects on children with thalassemia at different age after hematopoietic stem cell transplantation. METHODS: The clinical data of children with thalassemia treated in our hospital were retrospectively analyzed. The children were divided into 2-5 years old group and 6-12 years old group. The success rate of implantation, transplant-related mortality, GVHD incidence, and other transplant-related complications, as well as thalassemia-free survival (TFS) were compared between the two groups. RESULTS: The incidence of GVHD, hemorrhagic cystitis and severe oral mucositis after transplantation in the 2-5 years old group were significantly lower than those in the 6-12 years old group, while there was no statistically significant difference in the TFS between the two groups. CONCLUSION: Children in the low age (2-5 years old) group show fewer complications and higher quality of life after transplantation, therefore, stem cell transplantation at 2-5 years old is more conducive to rehabilitation of the children with thalassemia.


Assuntos
Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Talassemia , Talassemia beta , Criança , Pré-Escolar , Doença Enxerto-Hospedeiro/complicações , Humanos , Qualidade de Vida , Estudos Retrospectivos , Talassemia/terapia , Talassemia beta/terapia
11.
Am Fam Physician ; 105(3): 272-280, 2022 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-35289581

RESUMO

Thalassemia is a group of autosomal recessive hemoglobinopathies affecting the production of normal alpha- or beta-globin chains that comprise hemoglobin. Ineffective production of alpha- or beta-globin chains may result in ineffective erythropoiesis, premature red blood cell destruction, and anemia. Chronic, severe anemia in patients with thalassemia may result in bone marrow expansion and extramedullary hematopoiesis. Thalassemia should be suspected in patients with microcytic anemia and normal or elevated ferritin levels. Hemoglobin electrophoresis may reveal common characteristics of different thalassemia subtypes, but genetic testing is required to confirm the diagnosis. Thalassemia is generally asymptomatic in trait and carrier states. Alpha-thalassemia major results in hydrops fetalis and is often fatal at birth. Beta-thalassemia major requires lifelong transfusions starting in early childhood (often before two years of age). Alpha- and beta-thalassemia intermedia have variable presentations based on gene mutation or deletion, with mild forms requiring only monitoring but more severe forms leading to symptomatic anemia and requiring transfusion. Treatment of thalassemia includes transfusions, iron chelation therapy to correct iron overload (from hemolytic anemia, intestinal iron absorption, and repeated transfusions), hydroxyurea, hematopoietic stem cell transplantation, and luspatercept. Thalassemia complications arise from bone marrow expansion, extramedullary hematopoiesis, and iron deposition in peripheral tissues. These complications include morbidities affecting the skeletal system, endocrine organs, heart, and liver. Life expectancy of those with thalassemia has improved dramatically over the past 50 years with increased availability of blood transfusions and iron chelation therapy, and improved iron overload monitoring. Genetic counseling and screening in high-risk populations can assist in reducing the prevalence of thalassemia.


Assuntos
Doenças Hematológicas , Sobrecarga de Ferro , Talassemia , Talassemia beta , Pré-Escolar , Humanos , Recém-Nascido , Ferro , Sobrecarga de Ferro/complicações , Sobrecarga de Ferro/terapia , Talassemia/complicações , Globinas beta , Talassemia beta/complicações , Talassemia beta/diagnóstico , Talassemia beta/terapia
12.
Sci Rep ; 12(1): 4952, 2022 03 23.
Artigo em Inglês | MEDLINE | ID: mdl-35322124

RESUMO

Reactivating of fetal hemoglobin (HbF; α2γ2) can ameliorate the severity of ß-thalassemia disease by compensating for adult hemoglobin deficiency in patients. Previously, microarray analysis revealed that zinc finger protein (ZNF)802 (also known as Juxta-posed with another zinc finger gene-1 (JAZF1)) was upregulated in human erythroblasts derived from adult peripheral blood compared with fetal liver-derived cells, implying a potential role as a HbF repressor. However, deficiency in ZNF802 induced by lentiviral shRNA in ß0-thalassemia/hemoglobinE erythroblasts had no effect on erythroblast proliferation and differentiation. Remarkably, the induction of HBG expression was observed at the transcriptional and translational levels resulting in an increase of HbF to 35.0 ± 3.5%. Interestingly, the embryonic globin transcripts were also upregulated but the translation of embryonic globin was not detected. These results suggest ZNF802 might be a transcriptional repressor of the γ-globin gene in adult erythroid cells.


Assuntos
Talassemia , Talassemia beta , Adulto , Proteínas Correpressoras/metabolismo , Proteínas de Ligação a DNA/metabolismo , Regulação para Baixo/genética , Eritroblastos/metabolismo , Hemoglobina Fetal/genética , Hemoglobina Fetal/metabolismo , Humanos , Fatores de Transcrição/metabolismo , gama-Globinas/genética , gama-Globinas/metabolismo
13.
Stem Cells Transl Med ; 11(4): 407-414, 2022 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-35267028

RESUMO

Beta-thalassemia is one of the most common monogenic disorders. Standard treatment of the most severe forms, i.e., transfusion-dependent thalassemia (TDT) with long-term transfusion and iron chelation, represents a considerable medical, psychological, and economic burden. Allogeneic hematopoietic stem cell transplantation from an HLA-identical donor is a curative treatment with excellent results in children. Recently, several gene therapy approaches were evaluated in academia or industry-sponsored clinical trials as alternative curative options for children and young adults without an HLA-identical donor. Gene therapy by addition of a functional beta-globin gene using self-inactivating lentiviral vectors in autologous stem cells resulted in transfusion independence for a majority of TDT patients across different age groups and genotypes, with a current follow-up of multiple years. More recently, promising results were reported in TDT patients treated with autologous hematopoietic stem cells edited with the clustered regularly interspaced short palindromic repeats-Cas9 technology targeting erythroid BCL11A expression, a key regulator of the normal switch from fetal to adult globin production. Patients achieved high levels of fetal hemoglobin allowing for discontinuation of transfusions. Despite remarkable clinical efficacy, 2 major hurdles to gene therapy access for TDT patients materialized in 2021: (1) a risk of secondary hematological malignancies that is complex and multifactorial in origin and not limited to the risk of insertional mutagenesis, (2) the cost-even in high-income countries-is leading to the arrest of commercialization in Europe of the first gene therapy medicinal product indicated for TDT despite conditional approval by the European Medicines Agency.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Talassemia , Talassemia beta , Criança , Terapia Genética/métodos , Humanos , Talassemia/genética , Talassemia/terapia , Adulto Jovem , Globinas beta/genética , Talassemia beta/genética , Talassemia beta/terapia
14.
J Cell Mol Med ; 26(9): 2520-2528, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35355397

RESUMO

Although numerous patient-specific co-factors have been shown to be associated with worse outcomes in COVID-19, the prognostic value of thalassaemic syndromes in COVID-19 patients remains poorly understood. We studied the outcomes of 137 COVID-19 patients with a history of transfusion-dependent thalassaemia (TDT) and transfusion independent thalassaemia (TIT) extracted from a large international cohort and compared them with the outcomes from a matched cohort of COVID-19 patients with no history of thalassaemia. The mean age of thalassaemia patients included in our study was 41 ± 16 years (48.9% male). Almost 81% of these patients suffered from TDT requiring blood transfusions on a regular basis. 38.7% of patients were blood group O. Cardiac iron overload was documented in 6.8% of study patients, whereas liver iron overload was documented in 35% of study patients. 40% of thalassaemia patients had a history of splenectomy. 27.7% of study patients required hospitalization due to COVID-19 infection. Amongst the hospitalized patients, one patient died (0.7%) and one patient required intubation. Continuous positive airway pressure (CPAP) was required in almost 5% of study patients. After adjustment for age-, sex- and other known risk factors (cardiac disease, kidney disease and pulmonary disease), the rate of in-hospital complications (supplemental oxygen use, admission to an intensive care unit for CPAP therapy or intubation) and all-cause mortality was significantly lower in the thalassaemia group compared to the matched cohort with no history of thalassaemia. Amongst thalassaemia patients in general, the TIT group exhibited a higher rate of hospitalization compared to the TDT group (p = 0.001). In addition, the rate of complications such as acute kidney injury and need for supplemental oxygen was significantly higher in the TIT group compared to the TDT group. In the multivariable logistic regression analysis, age and history of heart or kidney disease were all found to be independent risk factors for increased in-hospital, all-cause mortality, whereas the presence of thalassaemia (either TDT or TIT) was found to be independently associated with reduced all-cause mortality. The presence of thalassaemia in COVID-19 patients was independently associated with lower in-hospital, all-cause mortality and few in-hospital complications in our study. The pathophysiology of this is unclear and needs to be studied in vitro and in animal models.


Assuntos
COVID-19 , Sobrecarga de Ferro , Talassemia , COVID-19/complicações , Feminino , Hospitais , Humanos , Sobrecarga de Ferro/etiologia , Masculino , Oxigênio , Sistema de Registros , Talassemia/complicações , Talassemia/terapia
16.
BMC Health Serv Res ; 22(1): 304, 2022 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-35248046

RESUMO

BACKGROUND: Patients with transfusion-dependent thalassemia (TDT) require lifelong blood transfusions and iron chelation therapy. Thus, patients afflicted with TDT often have to undergo blood transfusion and iron chelation therapy, which causes a major economic burden on them. However, this topic has not been reported in Dubai, United Arab Emirates (UAE). Hence, this study aimed to evaluate healthcare resource utilization and associated direct costs related to patients with TDT in Dubai, UAE. METHODS: For this study, a retrospective prevalence-based cost-of-illness analysis based on the UAE healthcare system and patient perspectives was conducted among patients with TDT treated at the Dubai Thalassemia Center in 2019. Information regarding healthcare resource utilization and direct medical costs was collected from the billing system connected to the electronic medical record system. Patients and their families were interviewed for direct non-medical cost estimations. RESULTS: A total of 255 patients with TDT were included in the study. The mean annual direct medical cost was estimated at AED 131,156 (USD 35,713) (95% CI: 124,735 - 137,578). The main driver of the medical cost for the participants as iron chelation therapy AED 78,372 (95% CI: 72,671 - 84,074) (59.8%), followed by blood transfusions, which accounted for AED 34,223 (95% CI: 32,854 - 35,593) 26.1% of the total direct medical costs. The mean annual direct non-medical costs was AED 2,223 (USD 605) (95% CI: 1,946 - 2,500). Age (p < 0.001), severe serum ferritin levels (p = 0.016), the presence of complications (p < 0.001), and the type of iron chelation therapy (p < 0.001) were significant predictors of higher direct medical costs incurred by the participants. CONCLUSION: Transfusion-dependent thalassemia poses a substantial economic burden on the healthcare system, patients, and their families. Our results show that the highest medical cost proportion was due to iron chelation therapy. In this regard, efforts must be made to improve the patients' acceptance and satisfaction with their iron chelation therapy to increase their compliance and improve the effectiveness of treatment, which could play an essential role in controlling the economic burden of this disease. Moreover, greater support is essential for families that suffer catastrophic out-of-pocket expenses.


Assuntos
Talassemia , Transfusão de Sangue , Humanos , Cooperação do Paciente , Estudos Retrospectivos , Talassemia/epidemiologia , Talassemia/terapia , Emirados Árabes Unidos/epidemiologia
17.
Acad Radiol ; 29 Suppl 4: S91-S99, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35131148

RESUMO

RATIONALE AND OBJECTIVES: Despite some investigations about the role of cardiovascular magnetic resonance (CMR) imaging in thalassemia, there are a few studies regarding the feature-tracking (FT). We evaluated the role of T2*, functional, and FT values for the determining of adverse cardiac events (ACE). METHODS: One-hundred-fifty-nine patients with thalassemia-major (49.7% female, mean-age = 32 ± 9.8 year) were followed for 8 - 64 (median = 36) months. CMR derived functional, FT, and T2* as well as ACE (heart failure hospitalization, cardiac mortality, pulmonary hypertension, and arrhythmias) were recorded. Also, variables were analyzed for cardiac death prediction separately. RESULTS: Seventeen patients (10.7%) developed ACE. The right-ventricular ejection fraction (RVEF) was the strongest indicator of ACE (OR: 0.85, 95% - CI: 0.790 - 0.918; p < 0.001) and cardiac mortality (OR: 0.88, 95%-CI: 0.811 - 0.973; p = 0.01). RVEF ≤ 39% and ≤ 37% predicted ACE and mortality with sensitivity of 62.5% and 71.43% and specificity of 95.77% and 93.38%, respectively. Additionally, myocardial-T2* was a predictor of mortality (OR: 0.90, 95%-CI: 0.814 - 0.999; p = 0.04). T2* ≤ 10 months predicted death with 85.71% sensitivity and 85.91% specificity. RV global longitudinal strain (GLS) was the strongest strain parameter for the indication of ACE and death (OR: 0.81, 95%-CI: 0.740 - 0.902; p < 0.001 and OR: 0.81, 95%- CI: 0.719 - 0.933; p = 0.003, respectively). RV GLS ≤ 16.43% and ≤ 15.63% determined ACE and death with sensitivity of 52.94% and 71.43% and specificity of 90%, respectively. CONCLUSION: Our results underscore the role of FT and non-contrast CMR parameters as valuable markers of ACE in thalassemia.


Assuntos
Imagem Cinética por Ressonância Magnética , Talassemia , Adulto , Feminino , Humanos , Imageamento por Ressonância Magnética , Imagem Cinética por Ressonância Magnética/métodos , Masculino , Valor Preditivo dos Testes , Volume Sistólico , Talassemia/complicações , Talassemia/diagnóstico por imagem , Função Ventricular Esquerda , Função Ventricular Direita , Adulto Jovem
18.
Ann Med ; 54(1): 326-342, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35103514

RESUMO

INTRODUCTION: Iron chelation therapy (ICT) is essential to prevent complications of iron overload in patients with transfusion-dependent thalassaemia. However, there is currently no standard for how to best measure adherence to ICT, nor what level of adherence necessitates concern for poor outcomes, especially in paediatric patients. The objectives of this review are to identify rates of adherence to ICT, predictors of adherence, methods of measurement, and adherence-related health outcomes in children and adolescents. METHODS: This review covers the literature published between 1980 and 2020 on ICT in thalassaemia that assessed adherence or compliance. Included studies reflect original research. The preferred reporting items of systematic reviews and meta-analyses (PRISMA) guidelines were followed for reporting results, and the findings were critically appraised with the Oxford Centre for Evidence-based Medicine criteria. RESULTS: Of the 543 articles, 37 met the inclusion criteria. The most common methods of assessing adherence included patient self-report (n = 15/36, 41.7%), and pill count (n = 15/36, 41.7%), followed by subcutaneous medication monitoring (5/36, 13.8%) and prescription refills (n = 4/36, 11.1%). Study sizes ranged from 7 to 1115 participants. Studies reported adherence either in "categories" with different levels of adherence (n = 29) or "quantitatively" as a percentage of medication taken out of those prescribed (n = 7). Quantitatively, the percentage of adherence varied from 57% to 98.4% with a median of 89.5%. Five studies focussed on interventions, four of which were designed to improve adherence. Studies varied in sample size and methods of assessment, which prohibited performing a meta-analysis. CONCLUSIONS: Due to a lack of clinical consensus on how adherence is defined, it is difficult to compare adherence to ICT in different studies. Future studies should be aimed at creating guidelines for assessing adherence and identifying suboptimal adherence. These future efforts will be crucial in informing evidence-based interventions to improve adherence and health outcomes in thalassaemia patients.Key messagesPredictive factors associated with ICT adherence in the paediatric population include age, social perception of ICT, social support, and side effects/discomfort.Increased adherence in the paediatric population is associated with decreased serum ferritin and improved cardiac, hepatic, and endocrine outcomes.Inadequate adherence to ICT is associated with increased lifetime health costs.There are few studies that focussed on interventions to increase adherence in the paediatric population, and the studies that do exist all focussed on different types of interventions; successful interventions focussed on consistent, long-term engagement with patients.


Assuntos
Terapia por Quelação , Sobrecarga de Ferro , Talassemia , Adolescente , Terapia por Quelação/efeitos adversos , Criança , Humanos , Ferro/uso terapêutico , Sobrecarga de Ferro/tratamento farmacológico , Sobrecarga de Ferro/etiologia , Cooperação do Paciente , Talassemia/complicações , Talassemia/tratamento farmacológico
19.
Int J Hematol ; 115(4): 575-584, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35192188

RESUMO

BACKGROUND: Short stature is a very common endocrinopathy among children with transfusion-dependent (TD) thalassemia. Hematopoietic stem-cell transplantation (HSCT) is the only effective curative treatment for TD thalassemia. This study aimed to identify and compare the longitudinal growth patterns of children with TD hemoglobin E (Hb E)/ß-thalassemia against those of children successfully undergoing HSCT. MATERIALS AND METHODS: We reviewed the medical records of 39 patients with TD Hb E/ß-thalassemia receiving regular blood transfusions, and 39 post-HSCT patients. Longitudinal weight and height Z-scores at each year of age were recorded for TD patients, and longitudinal weight and height Z-scores at each year before and after HSCT were obtained for post-HSCT patients. RESULTS: The mean weight and height Z-scores of TD patients decreased gradually and were lowest at age 13. However, post-HSCT subjects saw significant improvement in their mean weight and height Z-scores 6 and 3 years after HSCT, respectively, relative to pre-HSCT baseline values. CONCLUSIONS: Longitudinal growth patterns differed between patients successfully undergoing HSCT and children and adolescents with TD Hb E/ß-thalassemia. HSCT significantly improved height outcomes of children and adolescents with TD Hb E/ß-thalassemia.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Hemoglobina E , Talassemia , Talassemia beta , Adolescente , Transfusão de Sangue , Criança , Humanos , Talassemia/terapia , Talassemia beta/terapia
20.
Scand J Clin Lab Invest ; 82(3): 181-184, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35188019

RESUMO

A large novel 44.6 kb deletion named α0-thalassemia Chiang Rai (--CR) was first described in the individuals with uncommon Hb Bart's hydrops fetalis and HbH disease. This study aimed to develop a real-time gap PCR and melt curve analysis for the detection of --CR and investigate its frequency in northern Thailand. Among 4,952 blood samples, the assay was performed in 525 samples with a mean corpuscular volume (MCV) < 80 fL, HbA2 < 3.5%, HbA2+E < 25%, and negative for common deletional α0-thalassemia --SEA and --THAI. The developed method showed Tm values of 85.8 ± 0.0 °C and 91.5 ± 0.1 °C, which were specific for --CR and wild-type alleles, respectively. Nine (0.18% of 4,952 or 1.71% of 525) were positive for --CR, in which two were HbH disease and the rest were heterozygous for --CR. This study demonstrated the success of real-time gap PCR with melt curve analysis for --CR diagnosis. Additionally, the prevalence of --CR in the northern Thai population was comparable to --THAI. Thus, this study implies the importance of --CR in northern Thailand. Moreover, the developed real-time gap PCR with melt curve analysis is simple and highly accurate, and may be considered as an additional tool for routine α0-thalassemia --CR diagnosis in this region.


Assuntos
Talassemia , Alelos , Bioensaio , Índices de Eritrócitos , Humanos , Tailândia
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