More Important Than A Horoscope Match: Check For Thalassemia Between Couples
“Thalassemia is a genetic disorder, passed on to the progeny from the parents, which is incurable, though preventable.“
We should stop matching horoscopes, and instead start matching thalassemia results before deciding to get married. Roughly 6 crore people in India possess the thalassemia recessive gene, which means that they’re carriers of a recessive disease that their progeny will inherit, but only if their partners are also carriers.
Let me explain. Thalassemia is a genetic disorder, passed on to the progeny from the parents, that causes an abnormal production of haemoglobin in the body, leading to anaemia-like symptoms and other complications. There are 3 kinds of people in the thalassemia sense: normal, minor, and major. Let’s get to the bottom of it, and work up to the top, so as to give you an overview.
Carry me, thalassemia
Human chromosomes exist in pairs; we get half a set from our fathers, and the other half from our mothers. As we all know, the blood in our bodies carries oxygen to all our organs, and releases carbon dioxide during exhalation. This oxygen carrying ability is courtesy a protein called haemoglobin. This protein, in turn, is made up of two sub-units; alpha globin and beta globin. Any kind of abnormality in the genes, which involve these proteins, will cause varying degrees of thalassemia that ultimately, affects the body’s ability to carry oxygen. Now, it’s important to know that we are talking about a recessive disease here, which means that if you inherit the thalassemia trait from one parent, the normal gene from the other parent will cover up for the faulty gene, and not cause any major symptoms. The person, however, still remains a carrier, and passes the gene on to their children. And in some rare and unfortunate cases, where both the parents are affected or carriers, the chances of this disease in their offspring becomes very high.
Why is this important?
So, what makes thalassemia tests so important? To understand that, we must know how it affects the body.
People with thalassemia mainly have anaemia-like symptoms that include:
- Pale skin
- Shortness of breath
- Increased vulnerability to infections
- Late puberty
- Cold hands and feet
- Chest pain
Currently without a cure, people with thalassemia experience extreme growth deformities, and eventually succumb to other symptoms within the first 10 years. The only treatment to prolong life expectancy is to undergo regular blood transfusions to compensate for the anaemia, which results in an iron overload in the body, and a fatal accumulation in the heart and liver. But nowadays, with chelation therapy, whereby chelators (drugs that help remove excess iron from the blood) are regularly prescribed to these patients, the prognosis has completely changed. So, if you and your partner are thalassemia minors (or carriers), then there is a 25 per cent chance that the child will have normal blood, a 25 per cent chance that the child will be a thalassemia major, and a whopping 50 per cent chance that the baby will be a thalassemia minor.
Incurable, but preventable
Some couples find out late, and despite knowing what a tough life the baby could have, still decide to go ahead and have the child. It’s a matter of choice, really. In the last few decades, doctors have begun the compulsory early screening of all expectant mothers for genetic diseases like sickle cell anaemia and thalassemia. A simple blood test will reveal whether either of the partners, or the baby, are at risk; and if thalassemia major is detected in the latter, an abortion is recommended. Again, the decision is in the couple’s hands.
The loss of a baby can be devastating for a family, and nobody should have to go through it. That’s where this simple blood test comes in, and makes a huge difference by preparing the couple for what to expect in the future, and let them take a well-informed decision.