Interesting Facts about Thalassemia Carriers – Dr Sharon Lim

1. Thalassemia is in fact a Greek word. The word “Thalassa” means sea and “Emia” means blood.

• It is a genetic disorder inherited from either or both of your parents.
• It is the commonest single gene disorder in the global population .
• In Malaysia, it is estimated that 1 in 20 people is a thalassemia carrier.
• The disorder primarily affects your red blood cells (RBC) resulting in reduced or absent production of haemoglobin –the oxygen carrying vehicle in your body resulting in a medical condition known as anaemia.

 

2. Simple concepts about heredity that you need to know.

• In every generation, genes are shuffled and re-shuffled. Half of your genetic make up comes from your father and the remaining half comes from your mother.
• Eye color is an example of inherited characteristic, i.e. assuming that the roots of your family trees are “purely”Asian, that explained why you have “brown eyes” instead of blue eyes.
• Similarly, this concept is applicable in thalassemia gene inheritance.
• There is one important term that you need to be clear of to understand how thalassemia is inherited , i.e. ‘thalassemia carrier’.
• A thalassemia carrier is a person who has a copy of the thalassemia gene.If you are a carrier, most of the time you will appear healthy and do not manifest the symptoms of thalassemia. However, a carrier can pass the abnormal gene to the future child (remember it was mentioned earlier, every individual carries one copy of gene from the mother and one from the father).
• So now, find out what are the chances of your offspring inheriting the thalassemia gene by continue reading this article.

 

3. “I am perfectly healthy and so was my family member…it seems to me ignorance is bliss”

• Have you gone for thalassemia screening? If your answer is NO, perhaps you should visit the nearest clinic soon because your present decision might have a great impact on your future generation.
• In a situation where there is one parent carrier ( assuming you are a carrier and your partner is a normal individual), the chances of having a normal child or a thalassemia carrier child is 50% respectively (Refer to Diagram).
• The situation has become very much different if the couples are both carriers. There are 3 possibilities of your child’s genetic inheritance outcome; normal individual (25%), carrier (50%) or affected individual (25%) – also known as thalassemia major that will be blood transfusion dependent (Refer to Diagram).
• When one parent is an affected individual (thalassemia major patient) and the partner is a carrier, all your offspring will carry a thalassemia gene. Thus, you will not have a normal invidual. Your child will either be a carrier (50%) or affected individual (50% – thalassemia major).
• If both couples are thalassemia major individual, all of your offspring will be affected individual (100%)

4. What can you do to determine if you are a thalassemia carrier?

• Thalassemia carrier is usually a healthy individual.He/she does not manifest sign and symptoms of thalassemia and therefore undetected most of the time.
• Thalassemia CAN ONLY be detected and confirm by blood test.
• For the initial screening, widely available in private and government clinics, a full blood count will be suffixed to rule out the risk of thalassemia carrier.However, haemoglobin analysis or DNA analysis will give you a confirmatory diagnosis of your thalassemia status.
• One will only need to undergo thalassemia screening once in your lifetime as your status will not change overtime.
• As discussed earlier, thalassemia is a genetic disorder (your child has a chance of inheriting thalassemia gene) and if you are a healthy carrier it might go undetected giving you a false sense of assurance of your status.

 

5. Thalassemia patient- What they go through for the rest of their lives?

• Thalassemia patient, most of the time, shows the disease manifestation few months after birth. The child is typically pale (anaemic) and have failure to thrive.
• They are blood transfusion dependent for survival-MONTHLY basis and at times it maybe on weekly basis, depending on the individual.
• Due to the frequent blood transfusions, they are at risk of iron overload that leads to vital organs damage such heart and liver failure.
• Bone marrow transplantation is the only cure, but finding a suitable donor is challenging and very much depending on the medical expertise available.

 

6. Success story from Iran Thalassemia Pre-marital Screening Program

• The number of carriers detected has increased from 0 in 1000 to 4.1 in 1000 population².
• After 20 years of the compulsory premarital screening program, study found that the birth prevalence of beta thalassemia child reduced 30 % in Iran¹.
• The most important benefit of premarital screening is that it gives thalassemia carriers and carrier couples the possible range of informed choice and decide on their current or future pregnancy.
• In our country, thalassemia screening program is not compulsory but you are encourage to go for screening.

 

7. To summarise what you need to know about thalassemia

• Thalassemia is preventable.
• Screening is easily and widely available .
• Thalassemia carriers are most of the time perfectly healthy individuals, BUT are capable of transferring the genes to their offspring.
• Regular blood transfusions with other treatment (iron-chelation) ensure the survival of thalassemia patient.The only cure for thalassemia patient is bone marrow transplant.
• Eventhought treatment is available, we believe that “Prevention Is Always Better Than Cure” and thalassemia is definitely a highly preventable condition.

Dr. Sharon is currently a health administrator in Sabah who greatly believes in empowering the public with health awareness.

 

[This article belongs to The Malaysian Medical Gazette. Any republication (online or offline) without written permission from The Malaysian Medical Gazette is prohibited.]

 

References:

• Zeinalian et.al (2013) Two decades of pre-marital screening for beta-thalassemia in central Iran. Journal of Community Genetics Volume 4 (4) , pp 517-522
• Samavat and Modell (2004) Iranian thalassemia screening programme. BMJ 329;1134-113

 

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