Alpha Thalassemia is an inherited blood disorder that affects hemoglobin, the protein in red blood cells responsible for transporting oxygen throughout the body. Hemoglobin consists of two different protein chains: alpha and beta.
Alpha Thalassemia is caused by genetic variants in the HBA1 and HBA2 genes, which work together to produce the alpha-globin protein. Depending on the number of affected genes, the clinical presentation may range from mild anemia to the most severe form, hydrops fetalis, which is often fatal before birth.
| Feature | Details |
| Method | NGS / MLPA |
| Coverage | HBA1, HBA2 genes |
| Sample Requirement | Blood (EDTA Tube) Amniotic Fluid CVS |
| Turnaround Time (TAT) | 15 days |
Beta Thalassemia is an inherited blood disorder that affects the body’s ability to produce hemoglobin. Variants in the HBB gene reduce or prevent the production of beta-globin, resulting in a decreased number of healthy red blood cells and leading to anemia.
Individuals carrying a single altered HBB gene typically have a mild form of the condition, whereas the severe form (Mediterranean anemia) can cause chronic anemia, serious organ complications, and a lifelong need for regular blood transfusions.
The severity of the disease depends on the inheritance pattern of the mutated HBB gene:
Genetic testing can determine your carrier status or confirm a diagnosis of beta thalassemia.
| Feature | Details |
| Method | NGS / MLPA |
| Coverage | HBB gene |
| Sample Requirement | Blood (EDTA Tube) Amniotic Fluid CVS |
| Turnaround Time (TAT) | 15 days |
*For a detailed sample collection, please contact our team.
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