Beta-thalassemia

Cao, Antonio; Galanello, Renzo

doi:10.1097/gim.0b013e3181cd68ed

Cited by 713 publications

(634 citation statements)

References 135 publications

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“…1,2 According to the World Health Organization, 3 approximately 1.5% of the world population are carriers of this disease. Each year, approximately 40,000 infants positive for ␤-thalassemia major are reported in areas endemic for thalassemia, which include the Mediterranean countries, parts of north and west Africa, the Middle East, India, and southeast Asia including southern China.…”

mentioning

confidence: 99%

A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β-Thalassemia Mutations

Xiong

Huang

Chen

et al. 2011

The Journal of Molecular Diagnostics

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The increasing number of disease-causing mutations demands a simple, direct, and cost-effective diagnostic genotyping technique capable of detecting multiple mutations. This study validated the efficacy of a novel melting curve analysis-based genotyping assay (MeltPro HBB assay) for 24 ␤-thalassemia mutations in the Chinese population. The diagnostic potential of this assay was evaluated in 1022 pretyped genomic DNA samples, including 909 clinical cases of ␤-thalassemia minor or major, using a double-blind analysis in a multicenter validation study. Reproducibility of the assay was 100%, and the limit of detection was 10 pg per reaction. All 24 ␤-thalassemia mutations were accurately genotyped, and ␤-thalassemia genotypes were correctly determined in all 1022 samples, yielding overall sensitivity and specificity of 100%. The concordance rate was 99.4% between this assay and the reference method. It was concluded that the MeltPro HBB assay is useful for reliable genotyping of multiple ␤-thalassemia mutations in clinical settings and may have potential as a versatile method for rapid genotyping of known mutations because of its high throughput, accuracy, ease of use, and low cost.

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mentioning

confidence: 99%

A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β-Thalassemia Mutations

Xiong

Huang

Chen

et al. 2011

The Journal of Molecular Diagnostics

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“…Researchers in studies [11,23] attribute the abnormality of life activities and a life span to thalassemia children to iron overload which is considered the most important complication of blood transfusion in β-thalassemia patients.…”

Section: Discussionmentioning

confidence: 99%

“…Although α-and β-thalassemia are the most common types of thalassemia, the most important genetic variety of thalassemia is β-thalassemia which is caused by impaired production of β-globin chain types, causing severe transfusiondependent anemia, which significantly leads to poor QOL [11].…”

Section: Introductionmentioning

confidence: 99%

Quality of Life Among Thalassemia Children Patients in the Gaza Strip

Aljeesh

2016

AJNS

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Abstract:This study aimed to assess the quality of life of children (3-12 years) diagnosed with Thalassemia in Gaza Strip.A descriptive, analytical, cross-sectional design was used. All children 3-12 years old who were diagnosed with thalassemia and live in GS were included in the study (75 cases) with response rate (81.3%). Participants were interviewed by the researcher and completed the questionnaire which focused on quality of life of chronic diseases and included five domains. These domains are physical health, psychological health, social relationships, environment health and personal safety. Validity and reliability of the instrument were tested and the total instrument reliability test (Cronbach's Alpha) was 0.767. The scores for the study domains ranged between 2.81 for personal security domain and 3.66 for environmental health domain. Moreover, the study domains did not show statistically significant difference when compared by sex, living places, monthly income the relationship between parents and recurrent hospitalization. The findings of this study suggest the need of children diagnosed with thalassemia for support in all study domains. Health professionals need to work to minimize the disease's burdens. The current study calls the attention of health policy makers for new policies and new roles for the community health nurses and social workers. The study also revealed that there is a bad need to pay more attention when caring and dealing with thalassemia patients. Special food supplementation should be available in order to improve their physical health, more psychological support from their families and the society is needed. In addition, there is a need to provide safe environment and to enhance personal safety of these children.

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“…Although each of these syndromes have a very low incidence within the population, when combined, they comprise a significant portion of germline mutation carriers to which an alternative and nonsurgical approach could be offered. Moreover, sup-tRNAs could constitute a therapeutic tool for diseases caused by nonsense mutations, beyond Duchenne muscular dystrophy and cystic fibrosis, such as b-thalassaemia, 44 neurodegenerative diseases 45 or haemophilia, where the efficiency of aminoglycosides or PTC124 is yet to be demonstrated. 10 The use of sup-tRNA-based therapy in clinical practice faces many challenges, especially regarding the efficiency of delivery and expression of these systems in vivo, with a minimal toxicity caused to the organism.…”

Section: Resultsmentioning

confidence: 99%

Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA

et al. 2014

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Hereditary diffuse gastric cancer (HDGC) syndrome, although rare, is highly penetrant at an early age, and is severe and incurable because of ineffective screening tools and therapy. Approximately 45% of HDGC families carry germline CDH1/Ecadherin alterations, 20% of which are nonsense leading to premature protein truncation. Prophylactic gastrectomy is the only recommended approach for all asymptomatic CDH1 mutation carriers. Suppressor-tRNAs can replace premature stop codons (PTCs) with a cognate amino acid, inducing readthrough and generating full-length proteins. The use of suppressor-tRNAs in HDGC patients could therefore constitute a less invasive therapeutic option for nonsense mutation carriers, delaying the development of gastric cancer. Our analysis revealed that 23/108 (21.3%) of E-cadherin-mutant families carried nonsense mutations that could be potentially corrected by eight suppressor-tRNAs, and arginine was the most frequently affected amino acid. Using site-directed mutagenesis, we developed an arginine suppressor-tRNA vector to correct one HDGC nonsense mutation. E-cadherin-deficient cell lines were transfected with plasmids carrying simultaneously the suppressor-tRNA and wild-type or mutant CDH1 mini-genes. RT-PCR, western blot, immunofluorescence, flow cytometry and proximity ligation assay (PLA) were used to establish the model, and monitor mRNA and protein expression and function recovery from CDH1 vectors. Cells expressing a CDH1 mini-gene, carrying a nonsense mutation and the suppressor-tRNA, recovered full-length E-cadherin expression and its correct localization and incorporation into the adhesion complex. This is the first demonstration of functional recovery of a mutated causative gene in hereditary cancer by cognate amino acid replacement with suppressor-tRNAs. Of the HDGC families, 21.3% are candidates for correction with suppressor-tRNAs to potentially delay cancer onset.

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Beta-thalassemia

Cited by 713 publications

References 135 publications

A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β-Thalassemia Mutations

A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β-Thalassemia Mutations

Quality of Life Among Thalassemia Children Patients in the Gaza Strip

Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA

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