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Frequently Asked Questions

What are genetic disorders?

Genetic disorders are inherited conditions caused due to changes in a person’s DNA. They can be transferred from one generation to the next but may not necessarily manifest in each generation.

What is Thalassaemia?

Thalassaemias are a group of inherited blood disorders characterized by decreased or absent production of hemoglobin. Hemoglobin is essential for transporting oxygen throughout our body. Thus, thalassaemia is a life threatening condition. Clinical severity of thalassaemia can vary, ranging from asymptomatic carriers to fatal forms. Most common form is beta thalassaemia major, which requires lifelong blood transfusions to treat severe anemia. For more information, click here.

What causes Thalassaemia? 

Thalassaemia is inherited by genes - and is passed from parents to children. People who inherit defective hemoglobin gene from one parent but a healthy gene from the other parent are called carriers. Carriers often have no signs of illness. However, they have the ability to pass on the defective genes to their children. 

Who is a Thalassaemia Carrier? 

Beta thalassaemia carriers do not exhibit any symptoms and are unaware that they are carriers until they get tested. They have inherited one normal gene from one parent and another defective gene from the other parent. Thus, they are said to have the thalassaemia trait or are called carriers. This is not a diseased state and does NOT require any treatment.

When can a child be tested for thalassaemia? 

CBC (Complete Blood Count) and Hb Electrophoresis help in diagnosis of Thalassaemia status. This can be performed 12 months after birth or if child develops severe anemia before 6 months of age. DNA analysis can detect Thalassaemia status of a child at any age. Parent’s carrier screening is mandatory for diagnosis of thalassaemia major.

How to get tested? 

Please click here for 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 for the entire family of the affected individual to get tested? 

Family members who are thalassaemia carriers might not have any symptoms but are capable of passing on the thalassaemia gene to their future offspring. If one carrier decides to marry another carrier, their chances of having a child with thalassaemia major are 25% during each pregnancy.  It is imperative that these individuals are made aware of the hazards of marrying another thalassaemia carrier. Also, if a newly married couple is diagnosed as thalassaemia carriers they are directed to undergo CVS testing during each pregnancy.

Which families should get tested for thalassaemia?

Any family who has a thalassaemia major child in the family or even in distant relatives, should get tested as they are at a risk of being Thalassaemia carriers. Any pregnant woman, with abnormal CBC (Complete Blood Count) values, should be considered undergoing further testing to find out 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)?

People who want their Thalassaemia test done should contact our head office at PTGD at Sir Ganga Ram hospital, Lahore, or any of our regional Centers situated in Multan, Bahawalpur, Rawalpindi, Sargodha, Gujranwala, Faisalabad, Sahiwal and DG Khan. 
OR, may contact one of our field officers working at DHQ Hospitals in 36 Districts of Punjab.

What is the ideal time of taking sample for diagnosis (For Thalassaemia Major) in a transfusion dependent child?

A gap of 2-3 months after blood transfusion should be present before taking sample to confirm diagnosis of thalassaemia major. In case of clinical urgency, a pretransfusion sample may be taken. In any case, it is mandatory to take parents blood samples. Such samples may require DNA analysis for confirmation of diagnosis.

What are the symptoms (Complaints) of a thalassaemia major child?

The symptoms of beta thalassaemia major (Cooley’s anemia) generally appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. The symptoms include:
•    Shortness of breath
•    Pallor
•    Jaundice
•    Feeding problems
•    Diarrhea
•    Upper respiratory tract infections
•    Irritability
•    Dark urine

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

Is it necessary to give blood transfusions to every child of thalassaemia? What will happen if timely transfusions are not conducted?

Regular Blood Transfusions are necessary for all Thalassaemia Major diagnosed children. The frequency of transfusions depends on the severity of the disease and as advised by the doctor. The affected child may fails to thrive with irregular and inadequate blood transfusions. The child develops abdominal distention (hepatosplenomegaly), bony deformities and heart failure.

When can CVS test be done?

Between 10th to 14th week of pregnancy.

Is it necessary for the father to be present for the mother’s CVS test?

Yes, since the father’s sample also needs to be taken. But if for some reason the father cannot accompany the mother, it is compulsory that he should send his blood sample in an EDTA vial.

How is CVS sampling done and how long does it take?

CVS test is done early during pregnancy usually between 11th and 14th weeks of gestation. An ultrasound scan is done to determine the fetal viability, gestational age, number of fetsuses (twins etc) and placental location. Local anasthesia is injected into the abdominal skin. A thin needle is administered through the abdomen to obtain a tiny sample of the placenta. The sample is then sent for testing to diagnose any genetic abnormalities. The procedure is performed on an outpatient basis and doesn’t require hospital admission.  

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?

The CVS test should be performed in each pregnancy in carrier couples to determine the Thalassaemia status of the unborn child. Parents are informed about the results of CVS test. Genetic counselling is provided about the results. Fatwa regarding termination of pregnancy is provided to make informed decision in this regard.  

Is there a chance of misdiagnosis in the test results?

There is a 0.5% chance of misdiagnosis.

How long does it take for the test reports to be available?

The CVS test report takes 7 to 10 working days.

How many countries have made the premarital screening test compulsory for marriage?

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.