[Spectrum of gene deletion in 471 children with α-thalassemia]
Ye-Hui Lin1, Lian Fan, Zhang Zhang
1Department of Pediatrics, Southern Medical University, Foshan, Guangdong, China.
Insights
Genetic testing is crucial for diagnosing alpha-thalassemia in children with low MCV. The --SEA deletion is the most common alpha-thalassemia gene deletion found in this pediatric population.
Area of Science:
- Genetics
- Hematology
- Pediatrics
Context:
- Alpha-thalassemia is a common inherited blood disorder.
- Early diagnosis in children is vital for appropriate management.
- Microcytosis (low MCV) is a key indicator for screening.
Purpose:
- To investigate the prevalence and distribution of alpha-thalassemia gene deletions in children.
- To identify common genotypes associated with alpha-thalassemia in the study cohort.
Summary:
- A study analyzed 1341 children with MCV < 82 fl, diagnosing 471 (35.1%) with alpha-thalassemia.
- The prevalence of alpha-thalassemia increased with age.
- --SEA deletion (75.3%) was the most frequent type, followed by -a3.7 (17.0%) and -a4.2 (7.7%).
- The predominant genotypes were --SEA/aa (73.2%), aa/-a3.7 (12.5%), and --SEA/-a3.7 (5.5%).
Impact:
- Highlights the necessity of genetic testing for children presenting with microcytosis.
- Identifies --SEA deletion and --SEA/aa genotype as prevalent in this pediatric population.
- Provides epidemiological data on alpha-thalassemia in children, aiding public health strategies.
Objective:
To study the distribution of common α-thalassemia gene deletion in children.
Methods:
Blood cell analysis was performed on children who visited the clinic of the Foshan Women and Children's Hospital. Blood samples (2 mL, EDTA anticoagulant) was collected from children with MCV<82 fl for analysis of α-thalassemia gene using the GAP-PCR method.
Results:
MCV<82 fl was found in 1341 children. Of the 1341 children, 471 (35.1%) were diagnosed with α-thalassemia. The prevalence of α-thalassemia increased with increasing age. --SEA was a major type of α-thalassemia gene deletion (75.3%), followed by -a3.7 (17.0%) and -a4.2 (7.7%) in the 471 patients. The top three genotypes were --SEA/aa (73.2%), aa/-a3.7 (12.5%) and --SEA/-a3.7 (5.5%).
Conclusions:
Genetic testing is necessary for the diagnosis of α-thalassemia in children with MCV<82 fl. --SEA is a common type of α-thalassemia gene deletion, and -SEA/aa is a common gene type of α-thalassemia in the subjects of this study.
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