Thalassemia is an inherited blood disease passed on to a child from either of the parents. It causes defective red blood cell (RBC) production and leads to lack of haemoglobin, which enables red blood cells to carry oxygen. Therefore the thalassemia patients require treatments and regular blood transfusion throughout their living to cope up with the disease. There are two types of thalassemia thalassemia major and thalassemia minor. The affected patients with both defective globin genes, who need regular blood transfusions are called ‘thalassemia major’ and, the ones with only one defective globin gene are called ‘thalassemia carriers’ and such carriers remain asymptomatic with normal life expectancy.
Following are common symptoms and signs of thalassemia:
– Pale or yellowish skin
– Facial bone deformities
– Slow growth
– Abdominal swelling
– Dark urine
Although the requisite medical treatments and awareness programmes are available worldwide to control and prevent thalassemia, there are myths and misconceptions associated with the disease still. It is essential to have a better understanding of the disease and eradicate the misconceptions. Since World Thalassemia Day was also celebrated last Sunday (8), here we debunk some of those myths in this article.
Thalassemia patients AREN’T always exhausted and dull
A common misconception about thalassemia patients is that they are always exhausted. But the truth is that they don’t. Thalassemia minor patients can easily overcome the fatigue caused by Anaemia given optimal treatments and optimal care and perform as energetically as a normal person. They can grow and excel in any field they like.
Thalassemia major IS preventable
There is a tendency to assume that thalassemia is non preventable because it an inherited disease. But it is not true. Although the prevalence of this gene could be higher in some communities, it can be totally prevented. Young couples of such communities can be detected by haemoglobin electrophoresis by HPLC. The beta gene mutation is subjected to detection by DNA analysis. Also, since the DNA mutation analysis or amniotic fluid analysis can detect if the index foetus is thalassemia major, such births can be medically terminated to prevent a new generation of Thalassemia major.
Thalassemia carrier-couples CAN get married
People often think that thalassemia carriers (thalassemia minor) can’t given birth and if they do, they will definitely have a child with thalassemia major. This idea is scientifically proven to be totally erroneous. As long as the partners are aware of their thalassemia status, they can get married and ensure a non-thalassemia major birth by going through a pre-implantation genetic testing, PGTM (pre-implantation embryonic genetic testing) to select the embryo that does not have the thalassemia gene.
According to the scientists, there is only 25 per cent probability of the foetus being thalassemia major and 50 per cent chance of being thalassemia minor. In the remaining 25 per cent the foetus could be completely normal.
There ARE treatments for thalassemia major
Another myth associated with thalassemia is that there are no treatments for it. Nonetheless there are numerous effective treatments for thalassemia major. A thalassemia major child can reach adulthood just like a normal child if he is regularly transfused with leukocyte filtered blood and given medications to remove excess iron stored in blood through urine.
Moreover, the experts believe that along with blood transfusions, allogeneic bone marrow transplantation could be a curative treatment for thalassemia even. Gene therapy also is another potential curative treatment which is being experimented by doctors.
By Induwara Athapattu