Introduction
Thalassemia is a globin gene defects which causes hemolytic anemia. It is estimated that approximately 300,000 to 500,000 infants with thalassemia are born worldwide each year. About 7% of the global population (around 500 million people) are carriers of thalassemia gene mutations. BGI Genomics Medical Laboratory provides thalassemia gene detection services, providing a basis for doctors to diagnose thalassemia and reduce the incidence of severe thalassemia. By using High-throughput sequencing and Gap-PCR, BGI Genomics Thalassemia-seq could detect 500+ thalassemia mutations, 18 types of deletions, and 1000+ Hb mutations.
What clinical challenges are targeted by VISTA™ Thalassemia Screening?
Sickle cell anemia is a hereditary hematologic disorder characterized by the presence of abnormal hemoglobin, known as hemoglobin S. This genetic mutation, caused by a single nucleotide substitution in the beta-globin gene, leads to the distortion of red blood cells into a characteristic crescent or "sickle" shape, particularly under low oxygen conditions. These sickle-shaped cells are rigid and prone to hemolysis, resulting in chronic anemia, vaso-occlusive crises, and a range of complications such as acute chest syndrome, stroke, and organ damage.
Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called hemoglobin, an important part of red blood cells. When there isn’t enough hemoglobin, the body’s red blood cells don’t function properly and they last shorter periods of time, so there are fewer healthy red blood cells traveling in the bloodstream, which may cause anemia. People with thalassemia may have mild or severe anemia. Severe anemia can damage organs and lead to death.
People who have family members from certain parts of the world have a higher risk for having thalassemia. Traits for thalassemia are more common in people from Mediterranean countries, like Greece and Turkey, and in people from Asia, Africa, and the Middle East.
Thalassemia is an autosome recessive disease, which means at-risk couples (both individuals are carriers) may have a chance of giving birth to a child with severe symptoms. Thus knowing the carrier status is the key for the families to make the appropriate fertility decisions. There are already several wildly used methodologies to screen for the carrier status of thalassemia like hematology or hemoglobin electrophoresis, but they all have a certain rate of missing some of the carriers. VISTA™ Thalassemia Screening screens for more than 500 types of thalassemia in one practice, results in a higher detection rate of the carriers than traditional methodologies.
Applicable Clinical Scenarios
- Help couples check whether one or both individuals are carriers of thalassemia, and assess the risk of having a child with thalassemia in the future, or the risk of the fetus having thalassemia.
- Help families determine whether their babies are carriers or patients of thalassemia, and provide early detection and early intervention for children with thalassemia intermedia and major.
Important features of VISTA™ Thalassemia Screening
| Product Name | VISTA™ Thalassemia-seq |
| Detection Method | NGS (Target capture) + gap-PCR |
| Sample Type | Peripheral blood; Dried blood Card |
| Conditions Detected | Thalassemia, Sickle cell anemia |
| Genes Detected | HBA1, HBA2, HBB |
| Variants Detected (Central lab) | More than 100 types of α-thalassemia (including 4 types of deletion); more than 300 types of β-thalassemia (including 3 types of deletion) |
| Variants Detected (Localized solution) | More than 100 types of α-thalassemia (including 5 types of deletion); more than 300 types of β-thalassemia (including 11 types of deletion and 2 types of duplication) |
Why Choose VISTA™ Thalassemia Screening
- Accurate
Patented DNB nanoball (DNB) library construction technology and Combinatorial Probe-Anchor Synthesis sequencing technology result in high Q30 rate.
- Comprehensive
Screen for multiple types of thalassemia in one practice, including multiple variant types.
- Multiple Sample Types
Carrier Screening product can accommodate samples from blood, saliva, or dried blood spot accepted.
- Safe
We offer a safe and non-invasive method for comprehensive genetic analysis.
The VISTA™ Thalassemia Screening detection service process
Step 1
Physician orders test
Step 2
Sample collected
Step 3
Sample shipped to us and analyzed
Step 4
Results sent to physician
Localization solution of VISTA™ Thalassemia Screening
| Automation equipment | Sequencer | Maximum samples/ Flow cell | Sequencing time | Bioinformatics analysis |
|---|---|---|---|---|
| NanoMagBio N96 is used for DNA extraction; Rest of the steps are done manually | DNBSEQ-G99 | 384 | 12h | Halos-Thalassemia bioinformatics analysis system |
| DNBSEQ-G50 | 384 | 20h | ||
| DNBSEQ-G400 | 4608 | 38h |
- User-friendly control
Independently developed desktop sequencer and automatic processing system.
- Accurate detection
Patented DNB nanoball (DNB) library construction technology and Combinatorial Probe-Anchor Synthesis sequencing technology.
- Flexible throughput
Metagenomic sequencing of 384-1152 samples can be performed at a time depending on different sequencing platforms.
- Comprehensive database
BGI Genomics internal database which comprehensively integrates the public variant information and internal accumulated sample information.
VISTA™ Thalassemia Screening resources
Learn more about our product solution by downloading our relevant materials.
1. Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
2. Early genetic screening uncovered a high prevalence of thalassemia among 18,309 neonates in Guizhou, China