Empowering Thalassemia Patients and Family to Increase Public Knowledge on Thalassemia
1
Citation
13
Reference
10
Related Paper
Citation Trend
Abstract:
Thalassemia, the fifth-most catastrophic disease with 10,555 patients, causes physical, emotional, and economic burden for the patient, their family, and the country. Annually, IDR 500 billion are needed to cover the treatment of thalassemia. This projected number will continue to increase if no action is taken, so education and knowledge dissemination are important for thalassemia prevention. This community development involves thalassemia patients and families as partners and encourages them to share their knowledge and experience about thalassemia with the Indonesian late adolescents, young adult, and middle-aged adult population through an online webinar to increase public knowledge on thalassemia. Education media, such as posters and videos, were developed and disseminated during the activity, followed by live sharing from thalassemia patients, parents, and pediatricians. The respondents’ knowledge of thalassemia was measured using an 11-items questionnaire before and after the online educational activity. The results show that the respondents have a good knowledge of thalassemia, and it increases after attending online education event about the disease (9.74+2.4, 10.22+0.77, p<0.001). Their knowledge was associated with health-related field experience, knowing someone with thalassemia, and their willingness to undergo thalassemia testing (p<0.046, 0.013, and 0.007, respectively). Thus, these findings support the importance of education and dissemination of information regarding Thalassemia. Moreover, strong knowledge might lead to a willingness to undergo thalassemia testing, which might lead to less marriage between carriers and, eventually, a reduction in the incidence of thalassemia major.Objective:To investigate the prevalence, genotype and clinic characterization of childrenαβ-thalassemia in Guangdong province. Methods:The DNA samples of 286β-thalassemias diagnosed by reverse dot blot (RDB ) were analyzed by Gap-PCR for α-thalassemia 1 gene and α-thalassemia 2 gene.Results:Of 286 β-thalassemias, 25 were detected to be combined with α-thalassemia, among which 14 were detected to be combined withα-thalassemia 1 gene and 10 were detected to be combined with α-thalassemia 2 gene. 18 cases of β-thalassemia minor were detected to be combined with α-thalassemia, 7 cases of β-thalassemia major were detected to be combined with α-thalassemia. The prevalences were 8.74%, 4.89%, 3.85%, 8.74% and 8.75%, respetively. β-thalassemia major accounted for 28.0 % in 25 cases of childrenαβ-thalassemia. The children of β-thalassemia minor combined withα-thalassemia had no remarkable clinic characterization. The chidren of β-thalassemia major combined with α-thalassemia had obvious clinic characterization such as anaemia and splenohepatomegalia and were detected to be β-thalassemia intermedius type. Conclusion: The prevalence of αβ-thalassemia in Guangdong province is relatively frequent. The genotypes of αβ-thalassemia are associated with the phenotypes. It is very important to investigate the genotype of αβ-thalassemia for guiding the nursing, health care, therapy, marriage and procreation of thalassemia children.
Cite
Citations (0)
Abstract Objectives Thalassemia is a highly prevalent monogenic inherited disease in southern China. It is important to collect epidemiological data comprehensively for proper prevention and treatment. Methods In this study, blood samples collected from 15 807 residents of Chenzhou were primarily screened by hematological tests. A total of 3973 samples of suspected thalassemia carriers were further characterized by combined next‐generation sequencing (NGS) and Gap‐PCR. Results In total, 1704 subjects were diagnosed as thalassemia carriers with a total prevalence rate of 10.78%, including 943 α‐thalassemia carriers, 708 β‐thalassemia carriers, and 53 composite α and β‐thalassemia carriers. The prevalence rates of α‐thalassemia, β‐thalassemia, and composite α and β‐thalassemia were 5.97%, 4.48%, and 0.34%, respectively. Meanwhile, we characterized 19 α‐thalassemia variations and 21 β‐thalassemia variations in thalassemia carriers. Approximately 2.88% of thalassemia carriers would be missed by traditional genetic analysis. In addition, four novel thalassemia mutations and one novel abnormal hemoglobin mutation were identified. Conclusions Our data suggest a high prevalence of thalassemia and a diverse spectrum of thalassemia‐associated variations in Chenzhou. Also, combined NGS and Gap‐PCR is an effective thalassemia screening method. Our findings might be helpful for prevention and treatment of thalassemia in this region.
Beta thalassemia
Cite
Citations (45)
Heterozygote advantage
Beta thalassemia
Cite
Citations (1)
Cite
Citations (191)
Thalassemia is one of the most prevalent inherited disorders in south China. However, there still has no comprehensive research on molecular characterisation of α-thalassemia and β-thalassemia in the Quanzhou region of Fujian province, a city with high incidence of thalassemia in Southeast China.A total of 11 668 cases were collected in Quanzhou region from January 2013 to June 2019. The deletions of α-thalassemia were detected by Gap-PCR, α-thalassemia and β-thalassemia mutations were detected by DNA reverse dot blot hybridisation. Rare thalassemia gene testing and DNA sequencing were performed to detect rare and novel thalassemia mutation for suspected rare thalassemia carriers.Among 11 668 subjects, 4796 (41.10%) subjects were diagnosed with thalassemia. 3298 (28.27%) subjects were α-thalassemia carriers, 26 types of α-thalassemia mutations were identified, with the common α-thalassemia genotypes being --SEA/αα (71.47%), -α3.7/αα (17.13%) and -α4.2/αα (3.49%). 1407 (12.06%) subjects were β-thalassemia carriers, 18 types of β-thalassemia mutations were identified. The common five genotypes of β-thalassemia were βIVS-II-654/βN (36.53%), βCD41-42/βN (30.28%), βCD17/βN (17.13%), βCD26/βN (5.12%) and β-28/βN (4.62%). Additionally, 91 (0.78%) subjects with composite α-thalassemia and β-thalassemia were identified. Furthermore, 9 α-thalassemia and β-thalassemia gene mutations (CAP +40-43 (-AAAC), IVS-I-1 (G>T), IVS-I-5 (G>C), SEA-HPFH, CD53 (-T), CD37 (A>G), -90 (C>T), CD3 (T>C), -α6.9) were identified for the first time in the region. Among them, CD53 (-T), CD37 (A>G) and -90 (C>T) mutations were identified for the first time in Fujian province. Moreover, CD3 (T>C), -α6.9 mutations were first identified in Chinese individual.Quanzhou region of South China has high incidence of thalassemia mutations. In this study, several cases of rare thalassemia mutations have been identified, providing reference for clinical consultation. The completion of this study is of great significance to strengthen the prevention and control of thalassaemia in the Quanzhou region.
Beta thalassemia
Cite
Citations (28)
Background: Thalassemia and abnormal hemoglobin are the most common inherited diseases. The only treatment readily available in most countries is regular blood transfusion and iron chelation that is recommended in severely anemic patients with iron overload. In the last 20 years there has been much
progress in terms of diagnosing, preventing and managing thalassemia. This has lead to the success of prevention and control of thalassemia in many Mediterranean countries such as Cyprus, Italy and Greece.
Objective: To introduce approaches that may be applied for the control of thalassemia in developing countries including Asia where thalassemias are very prevalent.
Keywords: Asia, prevention, thalassemia.
Chelation Therapy
Mediterranean area
Cite
Citations (42)
Center (category theory)
Cite
Citations (0)
Heterozygote advantage
Compound heterozygosity
Beta thalassemia
Cite
Citations (68)
Objective:To investigate the prevalence and genotype distribution of α β-thalassemia by using molecular detection and haematological methods.Methods:396 cases with screening positive in thalassemia were given gene diagnosis of α-thalassemia and β-thalassemia by gap-PCR and reverse dot blot hybridization.Results:There were 109 cases of α-thalassemia,115 cases of β-thalassemia and 26 cases of α β-thalassemia,which is 18.44% of α β-thalassemia in β-thalassemia.There were 7 geneypes in α β-thalassemia,involving 5 β-thalassemia geneypes and 2 α-thalassemia geneypes.No significant differences were found between β-thalassemia and α β-thalassemia in some RBC parameters.Conclusion:The incidence of α β-thalassem is frequent.The hematological analysis can not give specificity for diagnosing α β-thalassemia.Patients with screening positive in β thalassemia should be given gene diagnosis of α and β thalassemia.It is more useful for genetic counselling and prenatal diagnosis of this disease.
Beta thalassemia
Cite
Citations (0)
Objective Through the retrospective analysis of 112cases of thalassemia in Guangxi province,explore the clinical features,treatment status quo and complication in patients with thalassemia. Methods Analysis of the clinical characteristics,treatment and complication of 112 thalassemia patients(16α-thalassemia intermediate,30 β-thalassemia intermediate,66 β-thalassemia major)in Guangxi with a retrospective analyzed method. Results(1)52 β-thalassemia major patients and all long time frequent blood transfusions patients ofβ-thalassemia intermedia with pre-transfusion Hb90g/L.(2)Iron chelation therapy was used irregularly in 84% patients ofβ-thalassemia intermediate and 89.8% patients ofβ-thalassemia major.(3)In 112thalassemia patients,74 patients(67.9%)with iron overload,including twoα-thalassemia intermediate patients,19 β-thalassemia intermediate patients,53 β-thalassemia major patients.(4)Two β-thalassemia intermediate patients and oneβ-thalassemia major patient with severe heart failure;twoβ-thalassemia major patients with secondary diabetes mellitus;17 β-thalassemia intermediate patients and 46 β-thalassemia major patients with severe short stature,short stature was correlated with levels of ferritin and pre-transfusion Hb(r=0.336,P0.001;r=-0.243,P=0.011). Conclusion Our data showed that,blood transfusion and iron chelation therapy were not standardized in theβ-thalassemia intermedia andβ-thalassemia major patients,iron overload severely,a high incidence of complications such as heart failure,diabetes mellitus and short stature.
Chelation Therapy
Cite
Citations (0)