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1.
Zhongguo Dang Dai Er Ke Za Zhi ; 22(1): 77-81, 2020 Jan.
Artigo em Chinês | MEDLINE | ID: mdl-31948529

RESUMO

Thalassemia is an inherited blood disorder caused by disordered globin chain synthesis due to mutations in the regulatory genes for hemoglobin. At present, allogeneic hematopoietic stem cell transplantation (allo-HSCT) is recognized as the only curative method for treatment. Through the revolution of pretransplantation regimens and selection of donor and source of stem cells, patients' survival has been greatly improved. This article reviews the development of transplantation for thalassemia and related research advances, in order to provide suitable treatment options for clinical application.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Talassemia beta , Humanos , Doadores de Tecidos , Condicionamento Pré-Transplante , Transplante Homólogo
2.
Ann Hematol ; 99(1): 31-39, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31834456

RESUMO

Since iron overload is the commonest cause of morbidity and mortality in ß thalassemia major (ß-TM), it represents one major target in therapeutic management of the disease. The recently discovered erythroid regulator, erythroferrone (ERFE), governed by high levels of erythropoietin, was found to suppress hepcidin expression, thus increasing iron availability for developing erythroid progenitors. We aimed to investigate ERFE levels in Egyptian ß-TM patients as an attempt to understand its role in the prediction of iron overload states. Our study included 70 ß-TM patients, divided into two subgroups according to the degree of iron overload, and 30 sex and age-matched healthy subjects. ERFE gene expression was analyzed by quantitative real-time polymerase chain reaction (qRT-PCR), and serum hepcidin was measured using enzyme-linked immunosorbent assay (ELISA) technique. Both ERFE gene expression levels and transferrin saturation (TS%) values were able to discriminate among cases with different degrees of iron overload, in contrast to hepcidin. TS% was acknowledged as the best predictor of iron overload (AUC 0.893) in comparison with serum hepcidin and ERFE gene levels (AUC 0.807 and 0.677, respectively), and ERFE gene expression was an independent predictor for the estimated TS%. In conclusion, we suggest that using the ERFE gene expression, combined with serum hepcidin estimation, can substantiate the role of estimated TS% as a promising tool in screening for iron overload in ß-TM patients.


Assuntos
Regulação da Expressão Gênica , Sobrecarga de Ferro/sangue , Hormônios Peptídicos/sangue , Talassemia beta/sangue , Adolescente , Criança , Estudos Transversais , Egito , Feminino , Hepcidinas/sangue , Humanos , Ferro/sangue , Masculino , Reação em Cadeia da Polimerase em Tempo Real
3.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 27(6): 1919-1924, 2019 Dec.
Artigo em Chinês | MEDLINE | ID: mdl-31839060

RESUMO

OBJECTIVE: To investigate the common genotypes of thalassemia of the pregnant woman in Wuhan area of China, and to make the prenantal gentic diagnosis for the fetus at high risk of thalassemia. METHODS: A total of 357 pregnant woman with the primary positive screening in Wuhan area were included in this study. Genotypes were measured with PCR-flow cytometry, and fluorescence hybridization was used for detecting thalassmia gene. The husbands of the pregnant women with thalassmia were recalled for genetic analysis of thalassemia, and 9 cases of fetuses with high risk of thalassemia were detected by amniocontesis after genetic counseling. RESULTS: In 357 cases of the pregnant women in Wuhan area, the 214 cases were diagnosed as thalassemia, 80 cases were diagnosed as alpha thalassemia (up to 90%), whose genotypes were determind as --SEA/αα (78.75%) and -α3.7/αα (15.00%), while 133 cases were determind with genotype of IVS-2-654/N (43.61%), CD41-42/N (20.30%) and CD17/N (19.55%) in beta thalassemia (up to 80%). 9 prenatal diagnosis continued pregnancy included 1case of -α3.7/--SEA, 1 case of -α3.7/αα, 2 cases of --SEA/αα, 2 cases of IVS-2-654/N and 3 cases of normal, however, the pregnancy in prenatal diagnosis of -α3.7/--SEA voluntarily was terminated after genetic counseling. Follow-up results after delivery were consistent with prenatal diagnosis. CONCLUSION: Minor and static thalassemia were very common in Wuhan area. Genetic detection after primary screening, genetic counseling and prenatal diagnosis in pregnant women could provide a theoretical basis for the development of regional specific prevention of intermedius and critical thalassemia which is meaning for rearing and bearing better children.


Assuntos
Talassemia alfa , Talassemia beta , China , Feminino , Testes Genéticos , Genótipo , Humanos , Gravidez , Diagnóstico Pré-Natal
4.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 27(6): 1938-1942, 2019 Dec.
Artigo em Chinês | MEDLINE | ID: mdl-31839063

RESUMO

OBJECTIVE: To investigate the type and distritution of thalassemia gene mutaitons in Hunan area, so as to provide evidence for prenatal screening, diagnosis and reduction of birth defects. METHODS: A total of 5018 cases from Maternal and Children Health Hospital of Hunan from June 2017 to Dec 2018 were undergone thalassemia gene mutation analysis. The reverse dot blot hydridization was used to detect 6 kinds of genotypes of α-thalassemia and 17 kinds of point mutations of ß-thalassemia, and the detected data were analyzed statistically. RESULTS: 889 cases (55.9%) of α-thalassemia carriers were found, including 385 cases of silent α-thalassemia, 488 cases of α-thalassemia trait, 16 cases of Hb H disease. --SEA/αα was the most common genotype in α thalassemia. 664 cases (41.7%) were diagnosed as ß-thalassemia carriers, heterozygotes accounted for 99.8% (663/664), IVS-Ⅱ-654, CD41-42M and CD17M were the main genotypes, and compound heterozygote accounted for 0.2% (1/664). 38 cases were diagnosed as α-thalassemia combined ß-thalassemia. CONCLUSION: The constituent ratio of thalassemia gene mutations in Hunan has regional characteristics, --SEA/αα is the most common genotype in α-thalassemia carrier. IVS-Ⅱ-654, CD41-42 and CD17 are common ones in ß-thalassemia. The frequency of α-thalassemia combined with ß-thalassemia is high.


Assuntos
Talassemia alfa , Talassemia beta , Criança , China , Feminino , Genótipo , Heterozigoto , Humanos , Mutação , Gravidez , Diagnóstico Pré-Natal , Talassemia alfa/genética , Talassemia beta/genética
5.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 27(6): 1943-1948, 2019 Dec.
Artigo em Chinês | MEDLINE | ID: mdl-31839064

RESUMO

OBJECTIVE: To investigate the gene mutation types and gene carrying rate of common thalassemia in patients with thalassemia in Quanzhou, and to analyze its molecular epidemiological characteristics in Quanzhou. METHODS: 546 patients with thalassemia diagnosed at the first hospital of Quanzhou from January 2017 to October 2018 were collected and retrospectively analyzed for their types of mutations and carrier rates. RESULTS: Among the 4226 samples submitted, 546 positive samples were detected, the total carrying rate of the thalassaemia genes was 12.92%; the carrier rate of α-thalassemia was 8.16%; the carrier rate of ß-thalassemia was 4.76%; There were more α-thalassemia missing patients than non-deleted patients. The Southeast Asian deletion type (--SEA /αα) was the most common one, with a composition ratio of 68.98%, which was followed by 22.61% (-α3.7/αα), 2.61% (αWSα/αα), and 2.32% (ααCS/αα), 2.32% (αQSα/αα), 1.16% (-α4.2/αα); 9 types of ß-thalassemia gene mutations were detected. The most common three mutations were IVSII-654 (C→T, 42.29%), CD41-42 (-TTCT, 33.83%), CD17 (A→T, 12.94%). 2 cases of --THAI/αα , 1 case of αα/αααanti3.7 and 1 case of HKαα were detected. CONCLUSION: This study shows that the gene carrying rate of thalassemia in Quanzhou is high and has diversity, which can provide some reference for the prevention and control of thalassemia in Quanzhou.


Assuntos
Mutação , Talassemia alfa , Talassemia beta , China , Genótipo , Humanos , Estudos Retrospectivos
6.
Croat Med J ; 60(5): 405-413, 2019 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-31686454

RESUMO

AIM: To determine whether serum ferritin, liver transaminases, and regularity and type of iron chelation protocol can be used to predict liver iron load as assessed by T2* magnetic resonance imaging (MRI) in patients with beta thalassemia major (TM). METHODS: This cross-sectional study, conducted from March 1, 2014 to March 1, 2015, involved 90 patients with beta TM on regular packed red blood cell transfusion. Liver and cardiac iron load were evaluated with T2* MRI. Compliance with iron-chelating agents, deferoxamine or deferasirox, and regularity of their use, as well as serum ferritin and liver transaminase levels were assessed. RESULTS: Patients with high serum ferritin were 2.068 times (95% confidence interval 1.26-3.37) more likely to have higher liver or cardiac iron load. High serum aspartate aminotransferases and irregular use of iron chelating agents, but not their type, predicted higher cardiac iron load. In a multiple regression model, serum ferritin level was the only significant predictor of liver and myocardial iron load. CONCLUSIONS: Higher serum ferritin strongly predicted the severity of cardiac and liver iron load. Irregular use of chelator drugs was associated with a higher risk of cardiac and liver iron load, regardless of the type of chelating agent.


Assuntos
Ferritinas/sangue , Quelantes de Ferro/uso terapêutico , Sobrecarga de Ferro , Talassemia beta , Estudos Transversais , Humanos , Sobrecarga de Ferro/sangue , Sobrecarga de Ferro/complicações , Sobrecarga de Ferro/epidemiologia , Sobrecarga de Ferro/terapia , Fígado/química , Fígado/diagnóstico por imagem , Imagem por Ressonância Magnética , Adesão à Medicação/estatística & dados numéricos , Talassemia beta/sangue , Talassemia beta/complicações , Talassemia beta/epidemiologia , Talassemia beta/terapia
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(11): 1090-1093, 2019 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-31703132

RESUMO

OBJECTIVE: To assess the value of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) for beta-thalassemia coupled with human leukocyte antigen (HLA) matching. METHODS: Three couples were recruited. Couple 1 both carried a ß (IVS-2-654) variation and had previously given birth to a son with ß thalassemia major. Couple 2 respectively carried (cd41-42) and ß (IVS-2-654) but had no history of pregnancy. Couple 3 respectively carried ß (CD17) and ß (IVS-2-654), and had a daughter carrying ß (CD17). RESULTS: For couple 1, NGS-SNP typing identified two embryos not only unaffected with thalassemia but also with matched HLA. One blastocyst was transferred and resulted in successful pregnancy. A healthy baby was born at 39th week of gestation. Its umbilical blood was used to treat the sick brother through hemopoietic stem cell transplantation. For couple 2, seven blastocysts were obtained. Second transplantation has resulted in successful pregnancy. Prenatal diagnosis was consistent with PGD. For couple 3, two blastocysts not only unaffected with thalassemia but also with no pathogenic copy number variations were obtained. Transfer of one blastocyte resulted in successful pregnancy, and prenatal diagnosis was consistent with PGD. CONCLUSION: NGS-based SNP typing is an useful tool for selecting embryos unaffected with beta-thalassemia and matched HLA through PGD.


Assuntos
Antígenos HLA/genética , Polimorfismo de Nucleotídeo Único , Diagnóstico Pré-Implantação , Talassemia beta/diagnóstico , Variações do Número de Cópias de DNA , Feminino , Fertilização In Vitro , Haplótipos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Gravidez , Talassemia beta/genética
8.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(11): 1130-1132, 2019 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-31703143

RESUMO

OBJECTIVE: To analyze the hematological characteristics of a patient with Hb Ottawa in conjunction with ß -thalassemia. METHODS: Peripheral blood samples from the proband and her parents were collected and subjected to red blood cell analysis and hemoglobin electrophoresis. Genotypes of α - and ß -globin genes were also analyzed. RESULTS: The proband and her mother were both heterozygotes for Hb Ottawa and ß -thalassemia variant IVS II-654, and presented with typical ß -thalassemia trait featuring hypochromic microcytic anemia. An abnormal hemoglobin band was detected upon electrophoresis. CONCLUSION: Co-existence of Hb Ottawa and ß -thalassemia may not aggravate the phenotype.


Assuntos
Hemoglobinas Anormais/genética , Talassemia beta/genética , Feminino , Testes Genéticos , Heterozigoto , Humanos , alfa-Globinas/genética , Globinas beta/genética
9.
FP Essent ; 485: 24-31, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31613565

RESUMO

Hemoglobinopathies are genetic disorders that lead to abnormal structure of the hemoglobin molecule. Genetic mutation results in major changes in the hemoglobin structure, with dysfunctions related to changes in shape, oxygen-carrying capacity, or ability to clump together, causing obstruction of the vascular system. Sickle cell disease and beta thalassemia major are two common hemoglobinopathies worldwide. However, they occur infrequently in the United States, with approximately 101,000 individuals affected. Sickle cell disease phenotypically is exhibited in patients with two hemoglobin S genes but the disease broadly includes many other hemoglobin abnormalities. Complications vary according to genotype and include acute pain crisis, vasoocclusive events, and acute chest syndrome. Blood transfusions are a mainstay of therapy. The two main categories of thalassemias are beta thalassemias and alpha thalassemias. Symptoms range from severe to none. The severity depends on how many genes are affected. Patients with the most severe form of beta thalassemia (ie, two affected genes) are categorized as having thalassemia major or transfusion-dependent disease. The primary treatment for beta thalassemia major currently is transfusions, although stem cell transplantation is a potentially curative option.


Assuntos
Anemia Falciforme , Hemoglobinopatias , Talassemia , Talassemia beta , Transfusão de Sangue , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/terapia , Humanos
10.
Rev Bras Epidemiol ; 22Suppl 02(Suppl 02): E190007.SUPL.2, 2019.
Artigo em Português, Inglês | MEDLINE | ID: mdl-31596378

RESUMO

OBJECTIVE: To describe the prevalence of hemoglobinopathies in the Brazilian adult population, according to laboratory tests from the National Health Survey. METHODS: A descriptive study was carried out with National Health Survey laboratory data collected between 2014 and 2015. The hemoglobinopathies test was performed using the High Performance Liquid Chromatography method. The results of the individual tests were interpreted as providing normal, homozygous or heterozygous results for S, C and D hemoglobin, in addition to other possible hemoglobinopathies. Prevalence of hemoglobinopathies according to gender, skin color, region, age and schooling was estimated. RESULTS: Hemoglobinopathies were present in 3.7% of the population. The main ones were the sickle cell trait (2.49%), thalassemia minor (0.30%) and suspected thalassemia major (0.80%). In relation to the sickle cell trait and suspected thalassemia major, there was a statistically significant difference for the skin color variable (p<0.05). The prevalences found for sickle cell trait according to skin color was: 4.1% among dark-skinned blacks, 3.6% among light-skinned blacks, 1.2% among whites, and 1.7% among others. CONCLUSION: The most prevalent hemoglobinopathies were the sickle cell trait and minor thalassemia, and were predominate among light- and dark-skinned black people. The study helps in identifying hemoglobinopathies and in genetic counseling in pre-conception.


Assuntos
Inquéritos Epidemiológicos/métodos , Traço Falciforme/epidemiologia , Talassemia beta/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Brasil/epidemiologia , Cromatografia Líquida de Alta Pressão , Estudos Transversais , Feminino , Inquéritos Epidemiológicos/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Distribuição por Sexo , Fatores Socioeconômicos , Adulto Jovem
11.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 27(5): 1585-1591, 2019 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-31607316

RESUMO

OBJECTIVE: To perform genetic analysis, prenatal diagnosis and preimplantation genetic diagnosis (PGD) in a family with a rare deletional ß- thalassemia. METHODS: Hematological parameters of the peripheral blood collected from all the family members were analyzed by whole blood cell analysis and capillary zone electrophoresis (CZE). Polymerase chain reaction-reverse dot blot (PCR-RDB) was used to identify 17 common ß- thalassemia gene mutations, the multiplex ligation-dependent probe amplification (MLPA) and gap-polymerase chain reaction (gap-PCR) were used to identify ß- globin gene cluster deletions. Chorionic villus sample or umbilical cord blood was obtained for prenatal diagnosis. Oligo-cells from blastocyst biopsy were collected for preimplantation genetic diagnosis by whole genome amplification and next generation sequencing. RESULTS: The proband was a carrier of Taiwanese deletion ß- thalassemia, two fetuses were both thalassemia majors. The PGD results showed that 6 of 11 tested embryos could be choose for transplantation. CONCLUSION: The Taiwanese deletion is a rare type deletion of ß- globin gene cluster, and it can lead to thalassemia intermedia or thalassemia major when compounded with other ß- globin gene mutation. PGD is another choice for thalassemia couples.


Assuntos
Diagnóstico Pré-Implantação , Talassemia beta , Feminino , Testes Genéticos , Humanos , Gravidez , Diagnóstico Pré-Natal , Talassemia alfa , Talassemia beta/genética
12.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 27(5): 1592-1595, 2019 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-31607317

RESUMO

OBJECTIVE: To investigate the gene-carrying rate and genetic types of thalassemia among the couples of child-bearing age in Ding'an, Hainan province. METHODS: A total of 1742 couples at child bearing age in the region were screened for thalassemia by detecting the mean corpuscular hemoglobin (MCH) and mean corpuscular volume (MCV). If the sample data of either spouse of couples was tested as MCV<82 fl and /or MCH<27 pg, both samples of the couple would be further assayed by hemoglobin electrophoresis. Those samples of HbA2 2.5 % or HbA2>3.5 % were judged as positive in the preliminary screening, then subjected to genetic diagnosis of thalassemia. RESULTS: 478 cases out of 1 742 couples of child bearing age were diagnosed as thalassemia gene mutation, and the gene-carrying rate was 13.72 %. In those carriers, 42 couples were diagnosed with the same type of thalassemia, accounting for 3.67 %. The gene-carrying rate of α-thalassemia, ß-thalassemia and αß-thalassemia was 9.56%, 3.10% and 1.06 % respectively. CONCLUSION: The Ding'an area in Hainan Province is an area with high incidence of thalassemia, and the main genotype is α-thalassemia, showing a distribution of local characteristics. The government should make efferts to popularise the screening for thalassemia, so as to effectively prevent the birth of children with thalassemia major.


Assuntos
Testes Genéticos , Talassemia alfa , Talassemia beta , Índices de Eritrócitos , Heterozigoto , Humanos
14.
Stomatologiia (Mosk) ; 98(4): 65-70, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31513153

RESUMO

The aim of the study was to evaluate cephalometric rates in transfusion dependent patients with ß-thalassemia major living in Azerbaijan. The study group included 21 adolescents (mean age 12.7±0.6 years) with ß-thalassemia major while 23 patients (mean age 13.3±0.5 years) with no congenital pathology served as controls. The study results showed that adolescent with ß-thalassemia major have class II malocclusion (

Assuntos
Cefalometria , Má Oclusão de Angle Classe II , Talassemia beta , Adolescente , Azerbaijão , Criança , Face , Humanos , Má Oclusão de Angle Classe II/etiologia , Talassemia beta/complicações
15.
Invest Ophthalmol Vis Sci ; 60(12): 3887-3896, 2019 09 03.
Artigo em Inglês | MEDLINE | ID: mdl-31529120

RESUMO

Purpose: To investigate foveal avascular zone (FAZ) changes in the superficial (SCP) and deep (DCP) capillary plexuses in beta-thalassemia major (BTM) patients, as shown in optical coherence tomography angiography. Methods: Nonrandomized, comparative case series of 54 eyes of 27 BTM patients and 46 eyes of 23 healthy controls, utilizing an automated FAZ detection algorithm. Measurements included FAZ area and FAZ shape descriptors (convexity, circularity, and contour temperature). Results were compared between the two groups, and correlated to iron load and chelation therapy parameters. Results: SCP and DCP FAZ area were not significantly different between the control and BTM groups (P = 0.778 and P = 0.408, respectively). The same was true regarding SCP FAZ convexity (P = 0.946), circularity (P = 0.838), and contour temperature (P = 0.907). In contrast, a statistically significant difference was detected between controls and BTM group regarding DCP FAZ convexity (P = 0.013), circularity (P = 0.010), and contour temperature (P = 0.014). Desferrioxamine dosage was strongly correlated to the DCP area (r = 0.650, P = 0.05) and liver magnetic resonance imaging/T2-star to DCP circularity (r = -0.492, P = 0.038). Correlations were also revealed between urine Fe excretion and DCP convexity (r = 0.531, P = 0.019), circularity (r = 0.661, P = 0.002), and contour temperature (r = -0.591, P = 0.008). Conclusions: Retinal capillary plexuses and especially DCP seem to present unique morphologic changes in BTM patients, not in the FAZ area, but in specific shape descriptors, indicating minor but detectable FAZ changes. These changes correlate well with iron load and chelation therapy parameters. Their clinical importance and pathophysiologic implications remain to be elucidated through further studies.


Assuntos
Fóvea Central/irrigação sanguínea , Vasos Retinianos/patologia , Talassemia beta/diagnóstico , Adulto , Capilares/patologia , Desferroxamina/administração & dosagem , Feminino , Ferritinas/sangue , Angiofluoresceinografia/métodos , Voluntários Saudáveis , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Vasos Retinianos/diagnóstico por imagem , Sideróforos/administração & dosagem , Tomografia de Coerência Óptica/métodos , Talassemia beta/sangue , Talassemia beta/tratamento farmacológico
16.
Cochrane Database Syst Rev ; 9: CD010517, 2019 09 17.
Artigo em Inglês | MEDLINE | ID: mdl-31529486

RESUMO

BACKGROUND: Thalassaemia is a genetic disorder of the haemoglobin protein in red blood cells. It has been historically classified into thalassaemia minor, intermedia and major, depending on the genetic defect and severity of the disease. The clinical presentation of ß-thalassaemia varies widely from a mild asymptomatic form in thalassaemia minor, to a severe disease in thalassaemia major where individuals are dependant on life-long blood transfusions. The hallmark of thalassaemia syndromes is the production of defective red blood cells that are removed by the spleen resulting in an enlarged hyperfunctioning spleen (splenomegaly). Removal of the spleen may thus prolong red blood cell survival by reducing the amount of red blood cells removed from circulation and may ultimately result in the reduced need for blood transfusions. OBJECTIVES: To assess the efficacy and safety of splenectomy in people with ß-thalassaemia major or intermedia. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Review Group's Haemoglobinopathies Trials Register, compiled from searches of electronic databases and the handsearching of journals and conference abstract books. We also searched online trial registries and the reference lists of relevant articles and reviews (27 July 2018).Date of the most recent search of the Group's trials register: 02 August 2019. SELECTION CRITERIA: We included randomised controlled and quasi-randomised controlled studies of people of any age with thalassaemia major or intermedia, evaluating splenectomy in comparison to conservative treatment (transfusion therapy and iron chelation) or other forms of splenectomy compared to each other (laparoscopic, open, radio-frequency). DATA COLLECTION AND ANALYSIS: Two authors independently selected and extracted data from the single included study using a customised data extraction form and assessed the risk of bias. The quality of the evidence was assessed using GRADE. MAIN RESULTS: One study, including 28 participants was included in the review; the results were described, primarily, in a narrative manner. This study assessed the feasibility of splenectomy using a laparoscopic approach versus open surgery. Given the lack of detail regarding the study methods beyond randomisation, the overall risk of bias for this study was unclear. The study was carried out over a period of 3.5 years, with each participant followed up only until discharge (less than one week after the intervention); it did not assess the majority of the outcomes outlined in this review (including two of the three primary outcomes, frequency of transfusion and quality of life). A total of three serious post-operative adverse events (the review's third primary outcome) were reported in the laparoscopic splenectomy group (one case of atelectasis and two cases of bleeding), compared to two events of atelectasis in the open surgery group; however, there were no significant differences between the groups for either atelectasis, risk ratio (RR) 0.50 (95% confidence interval (CI) 0.05 to 4.90) or for bleeding, RR 5.00 (95% CI 0.26 to 95.61) (very low-quality evidence). In addition, the study also reported three serious cases of intra-operative bleeding in the laparoscopic group which mandated conversion to open surgery, although the difference between groups was not statistically significant, RR 7.00 (95% CI 0.39 to 124.14) (very low-quality evidence). These effect estimates are based on very small numbers and hence are unreliable and imprecise. From this small study, there appeared to be an advantage for the laparoscopic approach, in terms of post-operative hospital stay, although the group difference was not large (median difference of 1.5 days, P = 0.03). AUTHORS' CONCLUSIONS: The review was unable to find good quality evidence, in the form of randomised controlled studies, regarding the efficacy of splenectomy for treating thalassaemia major or intermedia. The single included study provided little information about the efficacy of splenectomy, and compared open surgery and laparoscopic methods. Further studies need to evaluate the long-term effectiveness of splenectomy and the comparative advantages of surgical methods. Due to a lack of high quality evidence from randomised controlled studies, well-conducted observational studies may be used to answer this question.


Assuntos
Laparoscopia , Esplenectomia/métodos , Talassemia beta/cirurgia , Transfusão de Sangue , Humanos , Qualidade de Vida , Ensaios Clínicos Controlados Aleatórios como Assunto
17.
J. optom. (Internet) ; 12(3): 168-173, jul.-sept. 2019. tab
Artigo em Inglês | IBECS | ID: ibc-185366

RESUMO

Purpose: To compare contrast sensitivity (CS) in multi-transfused β-thalassemia patients who received deferoxamine with those who received Osveral. Methods: In this cross sectional study a total of 60 Beta-thalassemia patients (30 used deferoxamine and 30 used deferasirox) were regarded as case group and 30 age and sex matched healthy subjects were selected as control group. All subjects had a set of examinations including refraction, visual acuity, Biomicroscopy, ophthalmoscopy and CS. Contrast threshold was assessed with the use of Freiberg visual acuity and contrast test under the mesopic light condition for three frequencies; 1, 5, 15cpd. All data analysis was performed using SPSS, version 17. Results: In visual acuity tests, thalassemic patients did not have any problem. Contrast threshold was higher in thalassemic patients who infuse deferoxamine (1.87 ± 0.63, 1.46 ± 0.81, and 2.96 ± 1.68 in 1, 5, and 15 cpd, respectively) than that of those who intake deferasirox (1.74 ± 0.80 (P = 0.743), 0.99 ± 0.74 (P = 0.047), and 2.42 ± 1.36 (P = 0.321) for 1, 5, and 15cpd, respectively), and also than healthy patients (1.33 ± 0.58 (P = 0.009), 0.95 ± 0.68 (P = 0.022), and 2.24 ± 1.23 (P = 0.135) for 1, 5, and 15cpd, respectively). Comparing those who used deferasirox with healthy subjects, contrast threshold was higher in deferasirox group at all special frequencies (P > 0.05). No significant relationship was observed between CS values and duration of transfusion, serum ferritin concentration and dose of chelation therapy (P > 0.05). Conclusions: CS tests can detect visual disturbance in thalassemic patients before the impairment of visual acuity. It is suggested that CS tests be included in their regular eye examination


Objetivo: Comparar la sensibilidad de contraste (SC) en pacientes multitrasfundidos con Beta-talasemia y tratados con deferoxamina u Osveral. Métodos: En este estudio transversal, un total de 60 pacientes con Beta-talasemia (30 tratados con deferoxamina y 30 con deferasirox) fueron considerados como grupo de estudio, y 30 sujetos sanos pareados por edad y sexo fueron seleccionados como grupo control. A todos los sujetos se les realizó una serie de exámenes que incluyeron refracción, agudeza visual, biomicroscopía, oftalmoscopía y SC. El umbral de contraste se valoró mediante la prueba de agudeza visual y contraste de Freiberg, en condiciones de visión mesópica para tres frecuencias: 1, 5 y 15 cpd. Todos los análisis de los datos se realizaron utilizando SPSS, versión 17. Resultados: En las pruebas de agudeza visual los pacientes con talasemia no tuvieron ningún problema. El umbral de contraste fue superior en los pacientes con talasemia a quienes se infundió deferoxamina (1,87 ± 0,63, 1,46 ± 0,81 y 2,96 ± 1,68 en 1, 5 y 15 cpd, respectivamente) que en los pacientes tratados con deferasirox (1,74 ± 0,8 (P = 0,743), 0,99 ± 0,74 (P = 0,047) y 2,42 ± 1,36 (P = 0,321) para 1, 5 y 15 cpd, respectivamente), y también en los pacientes sanos (1,33 ± 0,58 (P = 0,009), 0,95 ± 0,68 (P = 0,022) y 2,24 ± 1,23 (P = 0,135) para 1, 5 y 15 cpd, respectivamente). Al comparar los pacientes tratados con deferasirox y los sujetos sanos, el umbral de contraste fue superior en el grupo de deferasirox para todas las frecuencias especiales (P > 0,05). No se observó una relación significativa entre los valores de SC y la duración de la trasfusión, la concentración de ferritina sérica y la dosis de la terapia de quelación (P > 0,05). Conclusiones: Las pruebas de SC pueden detectar la alteración visual en los pacientes con talasemia con anterioridad al deterioro de la agudeza visual. Sugerimos la inclusión de las pruebas de SC en su examen ocular regular


Assuntos
Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Sensibilidades de Contraste/fisiologia , Deferasirox/uso terapêutico , Desferroxamina/uso terapêutico , Sideróforos/uso terapêutico , Transtornos da Visão/fisiopatologia , Talassemia beta/tratamento farmacológico , Análise de Variância , Estudos de Casos e Controles , Estudos Transversais , Acuidade Visual/fisiologia , Talassemia beta/fisiopatologia
18.
BMC Med Genet ; 20(1): 136, 2019 08 09.
Artigo em Inglês | MEDLINE | ID: mdl-31399060

RESUMO

BACKGROUND: Thalassemia is the most common inherited disease in the world, involving α- or ß-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; however, nationwide screening for thalassemia carriers is not yet mandatory. This study aimed to assess whether blood count metrics, such as the Shine & Lal index (SLI; MCV*MCV*MCH/100), might serve as a predictor to screen thalassemia carriers in a limited resource area where molecular methods are not readily available. METHODS: During a family gathering of thalassemia patients, family members (n196) underwent a complete blood count test. Those with MCV < 80 fL and/or MCH < 27 pg and/or SLI < 1530 were further examined for Hb analysis. Only samples with HbA2 fraction > 4% or with a peak in the HbE fraction were sequenced to confirm ß-globin gene mutations. RESULTS: Of 196 family members, 117 (59.6%) had low MCV and/or low MCH and/or low SLI. The HbE fraction (mean 24.06% ± 0.95, range 22.4-26.5) was found in 27 (13.7%) cases, and all had a mutation at codon (CD)26 (c.79G > A). The mean HbA2 fraction in these samples was 3.18% ± 0.62 (range 2.6-3.8). For samples with HbA2 > 4% (n30; 15.3%), all had mutations at IVS1nt5 (c.92 + 5 G > C; n28), CD8/9 (c.27_28insG; n1) and CD19 (c.59A > G; n1). The mean HbA2 fraction with a mutation at IVS1nt5 (c.92 + 5 G > C) was 4.65% ± 0.77 (range 4.0-5.6). Interestingly, anaemia was only present in 25 and 57% of ß-thalassemia carriers with mutations at CD26 (c.79G > A) and at IVS1nt5 (c.92 + 5 G > C), respectively. CONCLUSIONS: The Shine & Lal index is helpful in the early screening of ß-thalassemia carriers, since this index confirms mutations at CD-26 (c.79G > A) and at IVS1nt5 (c.92 + 5 G > C), which are both common mutations in Bandung, Indonesia. Further DNA analysis is a topic of interest to map variants in globin genes and their distribution across populations.


Assuntos
Diagnóstico Precoce , Estudos de Associação Genética , Predisposição Genética para Doença/genética , Globinas beta/genética , Talassemia beta/genética , Adolescente , Sequência de Bases , Eritrócitos , Feminino , Hemoglobinas/genética , Humanos , Indonésia , Masculino , Deleção de Sequência
19.
Health Qual Life Outcomes ; 17(1): 137, 2019 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-31395066

RESUMO

BACKGROUND: Thalassaemia is a chronic disease without an effective cure in a majority. The clinical management has improved considerably during recent years; however, minimal attempts are made to up lift the quality of life among patients, especially in developing countries. Here we aim to describe and compare and to determine factors associated with health related quality of life among patients with transfusion dependent ß-thalassaemia major and haemoglobin E ß-thalassemia in Sri Lanka. METHODS: A case control study was conducted in the three largest thalassaemia centres of Sri Lanka. All patients with transfusion dependent ß-thalassaemia (ß-thalassaemia major and haemoglobin E ß-thalassaemia) aged 5-18 years were recruited as cases whilst a randomly selected group of children without chronic diseases were recruited as controls. Socio-demographic and clinical data were collected using an interviewer-administered questionnaire and health related quality of life was measured using the validated Paediatric Quality of Life Inventory Version 4.0. RESULTS: Two hundred and seventy one patients with transfusion dependent ß-thalassaemia (male-49.1%; mean age- 10.9 ± 3.6 years) and 254 controls (male-47.2%; mean age- 10.4 ± 3.5 years) were recruited. Mean health-related quality of life scores were significantly lower in patients compared to controls (72.9 vs. 91.5, p < 0.001). Of the patients, 224 (84%) had ß-thalassaemia major and 43 (16%) had haemoglobin E ß-thalassaemia. Quality of life scores in psychological health (p < 0.05), emotional functioning (p < 0.05) and social functioning (p < 0.05) were significantly lower in patients with haemoglobin E ß-thalassaemia compared to ß-thalassaemia major. Splenectomy (p < 0.05), short stature (p < 0.05), under nutrition (p < 0.05) and longer hospital stays (p < 0.05) were significantly associated with lower quality of life scores. CONCLUSIONS: Despite improvements in management, the quality of life among patients with ß-thalassaemia still remains low. This is more pronounced in the subset of patients with haemoglobin E ß-thalassaemia. Splenectomy, short stature, undernutrition and longer hospital stays were significantly associated with poor quality of life. It is timely, even in developing countries, to direct emphasis and to take appropriate steps to improve standards of living and quality of life of patients with ß-thalassaemia.


Assuntos
Qualidade de Vida , Talassemia beta/psicologia , Adolescente , Estudos de Casos e Controles , Criança , Estudos de Coortes , Feminino , Hemoglobina E , Humanos , Masculino , Sri Lanka , Inquéritos e Questionários , Talassemia beta/classificação , Talassemia beta/terapia
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