Genetic Variants Affecting the Clinical Severity of Beta Thalassemia
Study Details
Study Description
Brief Summary
β-thalassemia is one of the most common single gene disorder in Southern China. The phenotypic severity of beta thalassemia widely varies from mild to severe forms. Patients with the same beta thalassemia genotype show wide phenotypic variability that ranges from moderate to severe disease due to various genetic modifiers of disease severity. The aim of this study is to looking for the genetic factors which could affect the severity of beta thalassemia.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
The understanding of the genotype-phenotype correlation is a very important issue to the precise diagnosis of beta thalassemia. However, the genotype-phenotype correlation of Beta thalassemia is so complex that the pathogenesis of some patients remains uncertain and cannot be explained by known mechanisms. The study of the role of the genetic variants in modulating beta thalassemia phenotype could brought us considerable novel and interesting information in this area. We will collecting more than 1000 beta thalassemia patients , analyzing their clinical data and genome data, and association study will be conducted to screen the positive genetic variants which exert a significant effect on both the HbF levels and onset ages of beta thalassemia patients.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| beta thalassemia patients
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Diagnostic Test: Hematological Analysis and Genetical Analysis
Hematological Analysis: Hematological parameters were determined with an automated hematology analyzer (Sysmex, Japan), and hemoglobin analysis was performed with either high-performance liquid chromatography (Bio-Rad, USA) or capillary electrophoresis (Sebia, France and Helena, USA).
Genetical Analysis: Genomic DNA was extracted from peripheral blood (PB) by using a standard phenol/chloroform method. The genotypes of samples are analyzed by NGS assay.
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Outcome Measures
Primary Outcome Measures
- Genetic variants which could influence the phenotype of beta thalassemia [1 year]
Identified a group of single-nucleotide polymorphisms (SNPs) that contribute to β-thalassemia
Eligibility Criteria
Criteria
Inclusion Criteria:
- Diagnosed with β-thalassemia
Exclusion Criteria:
- Iron Deficiency Anemia
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Southern Medical University | Guangzhou | Guangdong | China | 510515 |
Sponsors and Collaborators
- Nanfang Hospital of Southern Medical University
- 303rd Hospital of the People's Liberation Army
- Liuzhou Municipal Maternity and Child Healthcare Hospital
- Zhuhai Municipal Maternal and Child Healthcare Hospital
- Dong Guan Maternal and Child Health Hospital
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- PDD-Beta thalassemia