Understanding the Causes of Thalassemia Disease
Have you come across the word Thalassemia earlier? The term may sound amusing, like some magical terminology. However, it's the name of a disease, and India has many Thalamic patients. According to Science Direct, in India, approximately 100,000 individuals are grappling with β thalassemia syndrome, which is around a quarter (25%) of the worldwide burden of this disease.
Thalassemia is an inherited blood disease that reduces the haemoglobin level in the body below the average level. Thalassemia minimises the production of healthy haemoglobin proteins in the body, lowering the production of healthy red blood cells in the bone marrow.
Let us find out the causes of thalassaemia.
What are the Causes of Thalassemia?
The causes of thalassaemia are genetic mutations in the DNA of cells responsible for haemoglobin production. Haemoglobin is the crucial substance in red blood cells responsible for transporting oxygen throughout the body. These mutations, inherited from parents by children, impact the chains forming haemoglobin molecules, namely the alpha and beta chains.
Mutations in either chain can reduce their production, giving rise to two main types of Thalassemia: alpha-thalassemia and beta-thalassemia. This genetic disorder disrupts the normal synthesis of haemoglobin, affecting the oxygen-carrying capacity of red blood cells and contributing to the characteristic symptoms associated with Thalassemia. Let us look at alpha-thalassemia and beta-thalassemia separately.
- Alpha-thalassemia: This condition is influenced by four genes responsible for creating the alpha haemoglobin chain, with each person receiving two genes from each parent. If you inherit one mutated gene, you won't show signs of Thalassemia, but you become a carrier who can pass it on to your children. Having two mutated genes leads to mild symptoms, known as the alpha-thalassemia trait. With three mutated genes, symptoms become moderate to severe. Inheriting four mutated genes is rare and often results in stillbirth.
- Beta-thalassemia: The beta-haemoglobin chain is formed by two genes, one from each parent. Inheriting one mutated gene results in mild signs and symptoms, termed Thalassemia minor or beta-thalassemia. If you inherit two mutated genes, the signs and symptoms become moderate to severe, known as Thalassemia major or Cooley anaemia. Babies born with faulty beta haemoglobin genes are typically healthy but develop symptoms during the first two years.
Here are the risk factors associated with Thalassemia.
The risk of Thalassemia is heightened by specific factors, such as:
- Family heritage: Thalassemia is inherited from parents to children from mutations in the haemoglobin genes.
- Ancestral background: Thalassemia is more prevalent among individuals with African-American heritage and those of Mediterranean and Southeast Asian descent. According to Mayo Clinic, people from these ethnic backgrounds are more susceptible to Thalassemia.
Conclusion
If left untreated, Thalassemia causes moderate to severe complications. Getting the condition treated at the right time is essential. As you see a health professional, we also suggest taking health insurance. Adequate insurance renders any medical emergency less severe as the financial burden is shared. Health insurance is like providing yourself with an extra layer of protection.
Disclaimer: The information provided in this blog is for educational and informational purposes only. It is not intended as a substitute for professional advice, diagnosis, or treatment. Please consult your general physician or another certified medical professional for any questions regarding a medical condition. Relying on any information provided in this blog is solely at your own risk, and ICICI Lombard is not responsible for any effects or consequences resulting from the use of the information shared.