Every year, World Thalassemia Day is observed on May 8th with a different theme, in an attempt to spread awareness. This year the theme—Together for Humanity—is aimed at encouraging people around the world to donate blood and save lives of individuals with thalassemia. It also intends to educate the mothers, carrying the gene, so as to protect their unborn. Blood donation is the best and the only contribution that we can make for the betterment of the people battling with this disease.
India is considered to be the capital of thalassemia. According to WHO, 3.9% of the Indian population are carriers of thalassemia. Due to the lack of knowledge in both the parents, around 7000-10,000 children are born with thalassemia every year, of which 50% die before they attain 20 years age. Therefore, this year the main aim of World Thalassemia Day was to train pregnant women and mothers regarding the preventive and corrective measures for the unborn child.
Thalassemia is a group of genetic autosomal recessive blood disorders that occurs due to the reduction in the synthesis or absence of hemoglobin. Hemoglobin is the oxygen-carrying entity of the red blood cells, which consists of two different proteins—alpha and beta. Decreased production of either of the proteins lead to alpha thalassemia or beta thalassemia, which persists from childhood throughout the life.
There are two different types of thalassemia: alpha thalassemia, beta thalassemia. These are further divided into thalassemia minor, intermedia, and major depending on the severity of symptoms. Further, the synergistic combination of beta protein with a mutant gene that codes for abnormal hemoglobin E and hemoglobin S, leads to E beta thalassemia and sickle beta thalassemia, respectively.
Thalassemia minor is observed in children whose parents are positive for thalassemia. According to genetic studies, if only one parent is a carrier of thalassemia then there a 50% chance of the child developing thalassemia minor. Whereas, if both the parents are carriers of thalassemia minor, then the child has a high possibility for thalassemia major (alpha and beta thalassemia).
Alpha thalassemia is mainly observed in Africa, the MiddleEast, India, southern China, Southeast Asia, and occasionally the Mediterranean region. Conversely, beta thalassemia is mainly found in the Mediterranean region, Southeast Asia, Arabian Peninsula, Africa, Iran, southern China, and Southeast Asia.
Identification of Thalassemia
- Shortness of breath
- Pale skin
- Slow growth rate
- Rapid heart rate
- Leg cramps
- Difficulty concentrating
Complications of Thalassemia
Bone marrow is the main source of formation of red blood cells. In thalassemia, as the red blood cells are destroyed due to abnormal hemoglobin synthesis, the bone marrow works excessively to produce more red blood cells. It affects the bone marrow and makes the bone brittle and is more susceptible to osteoporosis and eventually fractures.
Another major complication is spleenomegaly. Spleen produces blood cells, filters the blood and monitors the blood for infections. Similar to bone marrow the spleen also gets enlarged due to overwork. This results in reduced effectivity of the spleen and the person become immunocompromised, wherein the ability to fight infections is decreased.
Other complications include heart failure, arrhythmias, hepatitis, diabetes, hypothyroidism, hypoginadism, and thrombophilia,
Measures to detect and prevent the severity of thalassemia
Thalassemia (minor and major) can be detected by the conventional blood test, i.e. complete blood count, hemophoresis, iron level test, and genetic testing. The tests help in the accurate diagnosis of prenatal thalassemia.
Female patients and mothers with folic acid deficiency need to be tested for iron deficiency anemia and thalassemia because iron overload is a complication of thalassemia.
At birth, the newborns should be tested for genetic defects if any one of the parents is a carrier of thalassemia.
Routine vaccinations- these are required to prevent infections, as the thalassemia affected individuals are immunocompromised.
Blood transfusions are the main treatment option for treating thalassemia. However, individuals with thalassemia minor are usually asymptomatic or exhibit minor symptoms, which might not require blood transfusions.
Bone marrow transplantation is another treatment option. It is a procedure, wherein the destroyed bone marrow is replaced by healthy blood stem cells.
Blood donation is the best and the only way to improve the life of the patients battling with thalassemia. So, Let’s Pledge to Donate!
–Dr. Aparajita Deshpande