Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a disorder in which your body doesn’t have enough normal, healthy red blood cells (RBC).
This disease is inherited, meaning that at least one of your parents must be a carrier of the disease. It is caused by either a genetic mutation, or a deletion of certain key genes.
What is Thalassemia MINOR ?
In Thalassemia minor, the hemoglobin genes are inherited during conception, one from the mother (egg) and one from the father (sperm). People with a Thalassemia trait in one gene are known as carriers or are said to have thalassemia minor.
What is Thalassemia MAJOR?
Thalassemia Major is a serious blood disorder. People with the Thalassemia Major has insufficient hemoglobin, the critical oxyzen carrying component of blood. Patients with Thalassemia Major need blood transfusions every 3-8 weeks to maintain hemoglobin levels and therefore at risk of Blood transfusion related infections like hepatitis C, hepatitis B & HIV. Iron overload with damage to the liver, heart, pancreas and endocrine glands.
With regular transfusion and removal of iron (chelation therapy), Thalassemics can live and grow into adulthood. If comlications are avoided, they can enjoy a productive life. Untreated Thalassemia Major eventually leads to death. The only curative treatment is bone marrow transplant.
What is the cause of Thalassemia?
Thalassemia Major is genetic condition and this means that it may be passed on to children by Thalassemia Minor parents.
- Thalassemia Major can not be contracted in any other way.
- Approximately over 10,000 Thalassemia Major patients are born in India every year.
- Thalassemia Major child is born when both parents are Thalassemia Minors.
- Most of the Thalassemia Major patients are diagnosed between 6 months to 24 months of child birth.
- Initial symptoms include paleness, failure to thrive and abdominal distension due to enlargement of liver and spleen.
Thalassemia Trait Testing Details:-
Testing for the Thalassemia Trait usually happens in two parts :
Indicative Test : Complete Blood Count Test
This test is the same as the simple blood test that most employees go through this test during pre-employment checkups. However, most employers do not actively look for the Thalassemia Trait. Available at most nursing homes or hospitals.
Confirmatory Tests : Hb HPLC or Hb Electrophoresis for Hb A2 Estimation. Required only if the indicator test is positive.
Note:- Available at select testing centers only. Please contact your doctor to find a testing center near you.
There are roughly 6 crore people in India who carry the Thalassemia trait. Since the trait doesn’t impact them directly, most of them are unaware of this. However if two people carrying the Thalassemia trait get married, there is a 25% chance that their children will have the dangerous Thalassemia Major disease.
Children affected by Thalassemia seldom live beyond 40. Their lives are continuously dependent on blood transfusions and medication. Permanent cures like stem cell transplants are very expensive and also very risky.
It is thus advised that people getting married should take a simple blood test and ensure that both the partners are not carrying the Thalassemia trait.
And now only thing we can do is just Donate your Blood and be a hope for someone’s life…