Thalassemia Gene Test (508 types)

Price: HK$1,980 

• Detection of over 508 types (including α and β thalassemia) 
• Report time: 4-5 weeks
• Sample: Blood
• Location: Rooms 1424-1425, 14th Floor, Ocean Centre, 5 Canton Road, Tsim Sha Tsui

Suitable for: 

• Individuals must be 5 years or older; those under 18 must be accompanied by a parent / guardian.
• Individuals with a family history of the condition.
• Individuals already diagnosed with thalassemia.
• Individuals or couples planning to have a baby.

What is Thalassemia?

Thalassemia is a hereditary blood disorder that primarily affects the formation and function of red blood cells due to abnormal hemoglobin. In Hong Kong, about 5% of the population has α thalassemia, and 3% have β thalassemia, with the majority being mild cases.

Thalassemia Minor is caused by a defect in one α or β globin gene. These patients usually have normal or slightly decreased hemoglobin levels without clinical symptoms.

Thalassemia Major is a serious condition caused by defects in both α or β genes, leading to severe anemia. Patients with severe β thalassemia require lifelong blood transfusions and medication, along with iron chelation therapy to remove iron deposits caused by frequent transfusions.

For severe α thalassemia where all α genes are deleted or defective, affected infants typically die in the late stages of pregnancy or shortly after birth.

Benefits of Thalassemia Gene Testing ?

Since thalassemia is a genetic disorder, the most effective way to prevent  servere thalassemia  is to minimize the risk of having a child with the condition. A simple blood test can determine if a person carries the α or β thalassemia gene. Testing for the α and/or β-globin gene is the only way to identify asymptomatic α thalassemia and non-deletional hemoglobin variants (HbLS). Thalassemia gene testing is essential for anyone planning to have a baby.

Thalassemia Genes:

Each person has two sets of hemoglobin genes, one from the father and one from the mother. Thalassemia is generally divided into two types: α (alpha) and β (beta), further classified by severity into mild and severe. Mild thalassemia usually involves inheriting an abnormal gene from either parent and typically has no significant symptoms. Severe thalassemia results from inheriting abnormal genes from both parents, leading to serious anemia.

Inheritance Pattern:

Thalassemia is a genetic disorder passed from parents to children. If both parents are carriers of the thalassemia gene, their children have a high risk of having thalassemia. If only one parent is a carrier, the children may become carriers with mild symptoms.

Booking Procedure

For more details on the program, please click on the program.