Description

Introduction:

Alpha-thalassemia is an inherited blood disorder caused by mutations in the alpha-globin genes on chromosome 16. These mutations can reduce or completely prevent the production of alpha-globin chains, essential components of hemoglobin, the protein that carries oxygen in red blood cells. A widespread hemoglobinopathy, alpha-thalassemia is a significant public health concern, particularly in Southeast Asia. Here, it’s a leading cause (accounting for 60-90%) of hydrops fetalis, a serious condition in unborn babies.

The SEA gene deletion mutation is especially prevalent in Southeast Asia. Carrier rates vary across the region, with the highest found in Northern Thailand (14%), followed by Southern China (5.0-8.8%), Hong Kong (4.5%), and Thailand (3.7%). Northern Taiwan also has a significant carrier rate (3.5%).

The alpha-globin gene region contains two important genes, HbA1 and HbA2. Mutations in this region fall into two main categories:

• Alpha-0 thalassemia: These mutations completely eliminate alpha-globin chain production, causing a loss of gene function.
• Alpha+ thalassemia: These mutations reduce the number of alpha-globin chains produced.

Common alpha-thalassemia-causing mutations in Southeast Asian populations include large deletions like SEA and THAI, as well as point mutations like HbCS and deletions like α4.2 and α3.7.

AccuLite Alpha-Thalassemia Genotyping Kit leverages long-range PCR technology to identify specific regions of DNA linked to alpha-thalassemia in humans. This kit detects mutations or normal sequences by analyzing the size of DNA fragments separated on an electrophoresis gel. To identify the presence or absence of mutations in four key regions of a DNA sample, the kit utilizes two separate multiplex long-range PCR reactions. Each reaction can simultaneously analyze mutations or normal sequences in two deletion regions.

AccuLite Alpha-Thalassemia Genotyping Kit is a useful tool for research and diagnosis of 4 common alpha-thalassemia mutations in the Vietnamese population. Nam.

Benefits:

• High Accuracy: AccuLite Alpha-Thalassemia Genotyping Kit (RUO) uses advanced real-time PCR technology to detect deletion mutations with high accuracy.
• Easy to Use: The Kit is designed for ease of use with a simple and quick process.
• Optimize Time and Resources: AccuLite Alpha-Thalassemia Genotyping Kit (RUO) saves time and costs compared to traditional diagnostic methods.

Principles:

AccuLite Alpha-Thalassemia Genotyping Kit works by cloning specific sequence regions surrounding 4 positions where mutations are likely to occur using specific primer pairs and electrophoresis of PCR products to observe the results. Each test sample is analyzed by 2 Long-range PCR reactions. The reaction mixture contains specific primer pairs for each sequence region containing a position where a mutation may occur, specifically as follows:

– Reaction mixture A (Mix A): contains mutation detection primer pairs –SEA, -α3.7
– Reaction mixture B (Mix B): contains mutation detection primer pairs –THAI, -α4.2

Testing procedure:

The AccuLite Alpha-Thalassemia Genotyping Kit (RUO) testing procedure includes the following steps:

1. Collect patient samples
2. Extract DNA from patient samples
3. Amplify DNA using real-time PCR method
4. Analyze results using specialized software

References:

• Information about α-thalassemia:

– https://www.cdc.gov/ncbddd/thalassemia/facts.html

– https://www.thalassemia.org/

– https://www.nhlbi.nih.gov/health/thalassemia