Thalassemia - a preventable genetic anaemia

 

Madhu (name changed) was in my clinic looking all tense. She had recently moved to Pune and on her friend's recommendation she had come to see me.

 

Madhu was pregnant for four months and had low haemoglobin. She had taken Iron tablets and also injections but no results.

 

After taking a detailed history and examination I advised her on a test called Hb electrophoresis. Results were alarming.

 

 

 

Her blood had a slightly increased component of a haemoglobin called HbA2. This suggested that she carried a gene for a genetic anemia called thalassemia. Thus not only she would not respond to the routine treatment for anemia, but also the baby may inherit this abnormal gene leading to a potentially lethal disease called "thalassemia major". This meant herself, her husband Mandar(name changed) and possibly the fetus needed more tests and a different medical course compared to a routine pregnancy. Mandar's testing revealed that he also is a carrier of the thalassemia gene. After counselling Madhu Mandar opted for a procedure called amniocentesis to obtain the baby's DNA sample to rule out thalassemia major in the baby. After an anxious wait of 15 days I could give them a smile. Baby had thalassemia minor just like them and this meant that outcomes would be excellent.

 

However all this stress could have been avoided had they known about thalassemia before pregnancy. Let's learn more about thalassemia.

 
Haemoglobin in our red blood cells carries oxygen from lungs to the organs and carbon dioxide back to the lungs. For proper functioning we require adequate haemoglobin which is manufactured in the bone marrow. It's a complex process to understand it better It can be compared to cooking.

 

1. Our genes give recipe of how to cook haemoglobin.

 

2. Protein and iron are the two important ingredients which should be restocked everyday by diet.

 

3. Iron and protein combine in a well measured recipe to give us beautiful red glow of haemoglobin.

 

4. Many diseases can alter this process. This leads to low levels of hemoglobin called anaemia. Anaemia reduces supply of oxygen to the organs and leads to organ dysfunction. Severe anaemia due to extremely low levels of Hb if untreated may even lead to death.

 

5. Commonest causes are malnutrition- reduced production, worm infestation, prolonged bleeding due to heavy menses, piles etc.- increased demand.

 

6. However one important cause which needs detailed investigation and treatment is genetic anaemia called thalassemia. Here the recipe of cooking goes wrong. This genetic defect leads to manufacturing of abnormal inefficient haemoglobin.

 

7. If only one gene is defective (like in Madhu's case) the person is said to have thalassemia minor. Where the patient usually does not have much symptoms except for mild anemia. They should not be offered injection Iron unless the experts suggest so. But overall these patients do well.

 

8. The problem occurs when a person gets BOTH the genes which are abnormal. This leads to a lethal condition called thalassemia major where patients have extremely low haemoglobin and thus require frequent blood transfusions (usually every monthly or more frequently) for sustenance. This leads to poor quality of life, low immunity, reduced life expectancy amongst other diseases.

 

9. Thalassemia major can happen only when BOTH the partners have at least one thalassemia gene i.e. thalassemia minor.

 

10. Thus a simple step is to test for thalassemia traits before pregnancy. This is best done at birth or anytime afterwards before pregnancy. If one partner(usually the prospective mother) tests positive, a test of the prospective father is offered and if both are positive then the child can be tested inside the womb.

 

11. As the definitive therapies for thalassemia are still evolving, if the baby were thalassemia major , some couples may not want to go ahead with the pregnancy or at least be prepared. Stem cell therapy is seemingly useful for this purpose however more studies are needed for the same.

 

12. Remember there's only ¼ (25%) chance of the baby having thalassemia major as it's an autosomal recessive condition (meaning both the genes are required to cause the disease). The other 50% chance is that of a carrier status and 25% is the chance of not having even a single abnormal gene. (Diagram)

 

13. As estimated prevalence of thalassemia carrier status is 4-14 % in different parts of India it has become a major health issue.

 

14. Appropriate knowledge and testing can prevent thalassemia major, a difficult challenge to the humanity.

 

15. Notable examples- Gujarat universities offer thalassemia screening to their students. Cyprus has high thalassemia minor prevalence however they have eliminated thalassemia major due to testing at the time of marriage.

 

 

 

Let's come together and be aware about this challenge.

Let's predict and prevent thalassemia- protect our homes and society.

Know thalassemia, it's the first step towards thalassemia free india. - Donate Now