Frequently Asked Questions

 

What is Thalassaemia? Top
Thalassaemia is an inherited blood disorder caused by a mutation in the globin gene. The condition causes the body to produce abnormal hemoglobin in red blood cells, which in turn causes anaemia. Red blood cells are important for carrying oxygen throughout the body. Thalassaemia is a life threatening inherited disorder. The clinical severity of Thalassaemia varies widely ranging from asymptomatic to severe or even fatal forms . The severe forms require repaeated blood transfusions. Frequent blood transfusions also result in iron overload in different body organs.
   
What causes Thalassaemia? Top
Thalassaemia cannot be transmitted from one person to another, only inherited by genes - and is passed from parents to children. People who inherit faulty hemoglobin genes from one parent but normal genes from the other are called carriers. Carriers often have no signs of illness other than mild anemia. However, they can pass the faulty genes on to their children.
   
Who is a Thalassaemia Carrier? Top
Beta thalassaemia carriers are healthy and do not know that they are carriers unless they have a blood test carried out. They only carry the defected gene from one of the parents and the other gene is normal. Thus giving them a half status that is a Carrier or Trait status. This is not a diseased state and does NOT require any treatment.  
   
How early is it possible to detect Thalassaemia in a child after the child is born? Top
Children who are 7 months and older can be tested for Thalassaemia.  
   
How to get tested? Top
Please contact us here to get information regarding our services and how you can avail them free of charge or contact one of our Field Officers nearest to you for Home Sampling Facility. (Limited Areas Only)  
   
Why is it beneficial to have the whole family of the Thalassaemia affected child to be tested? Top
Family members who may be thalassaemia carriers and can transfer the defected gene into their children can be diagnosed and they stand a better chance of making the right decision not to marry a thalassaemia carrier with a thalassaemia carrier. Or if a newly married couple is diagnosed as thalassaemia carriers they are directed to have CVS test during each pregnancy.  
   
Which families should have done Thalassaemia test done?  

Any family who has a Thalassaemia Major affected child in their immediate family or even distant relatives are at risk of being Thalassaemia carrier. Every Pregnant woman who has had her CBC done and the reports indicate abnormal values, she should further consider her test done to find our if she is a Thalassaemia carrier.

 
   

How can a family apply for Thalassaemia testing whether for their child, extended family members or prenatal diagnosis (Chorionic Villus Sampling (CVS) Test)?

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People who want their Thalassaemia test done should contact the Punjab Thalassaemia Prevention Programme head office at Sir Ganga Ram hospital, Lahore, or one of our 3 Regional Centers situated at Multan, Bahawalpur and Rawalpindi. If the Families are not in one of these cities, please contact one of our field officers nearest to you  
   
After how much time can one get tested after blood transfusion? Top
After 2 months/60 days.  
   
How to tell if your child is thalassaemic? Top

Beta thalassemia comes in two serious types: thalassemia major (also called Cooley’s anemia) and thalassemia intermedia.

The symptoms of thalassemia major (Cooley’s anemia) generally appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. Other symptoms include:

  • fuzziness
  • paleness
  • frequent infections
  • poor appetite
  • failure to thrive
  • jaundice (yellowing of the skin and whites of the eyes)
  • enlarged liver and spleen

This form of thalassemia is usually so severe that it requires regular blood transfusions.

 
   
Is it necessary to have blood transfused for every thalassaemia child? What will happen if timely transfusions will not be conducted? Top

Blood transfusion is necessary for all Thalassaemia Major diagnosed children. The frequency of transfusions depends on the severity of the disease judged by the doctor. If regular blood transfusions are not carried, the affected child fails to thrive.

 
   
When is the CVS Test done? Top
At the 11th and 13th week of pregnancy.  
   
Is it necessary for the father to be present for the mother’s CVS test? Top
Yes, since the fathers sample also needs to be taken. But if for some reason the father cannot accompany the wife, it is compulsory that he should send his blood sample in an EDTA vial along with the mother.  
   
What is the procedure of the CVS sampling and how long is it? Top
The sample is taken from pergnant women transabdominally at the 11-13 weeks of gestation. An ultrasound scan is done to determine the fetal viability, gestational age, number of fetsuses (twins etc) and placental localisation. Local anasthesia is injected into abdomen skin. the placental tissue is removed by CVS needle. This procedure takes about 2 to 5 minutes.  
   

What to do if test results are positive for thalassaemia major and Should this test be conducted during every pregnancy or is it enough to be tested just once?

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For parents who are both Thalassaemia Carriers, it is highly advisable that this test be conducted during every pregnancy so the Thalassaemia status of the unborn child can be known. If it is a Thalassaemia Major child, the parents are strongly recommended to be counselled by one of our genetic counsellors.  
   
Is there a chance of misdiagnosis in the test results? Top
There is a 0.5% chance of misdiagnosis  
   
How long does it take for the test report to be given? Top
It takes about one week to 10 working days for the results to be delivered.  
   
How many countries have made the premarital screening test compulsory for marriage? Top

Cyprus, Greece, Italy, Behrain, India, Iran, Turkey, Indonesia, Malaysia, Maldive, Singapore, Thailand, Saudi Arab and the UAE have made the premarital Thalassaemia screening test mandatory for every hopeful couple wishing to marry.