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Thalassemia

The First Step in Family Planning

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
MethodNGS / MLPA
CoverageHBA1, 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:

  • Inherited from one parent: Carrier status or a mild form (beta thalassemia minor)
  • Inherited from both parents: Severe form (beta thalassemia major)

Genetic testing can determine your carrier status or confirm a diagnosis of beta thalassemia.

Feature Details
MethodNGS / MLPA
CoverageHBB 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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