World Thalassemia Day is observed on May 8 every year to raise awareness about thalassemia, an inherited blood disorder characterized by less hemoglobin and lesser than normal blood cells. Thalassemia is caused by genetic mutation and deletion of some key gene fragments. A person with thalassemia may have bone deformities, yellow or pale skin, dark-colored urine, delayed growth, and excessive tiredness. However, these symptoms are not visible in every thalassemia patient, and some signs and symptoms only develop during later childhood or adolescence.
The type of thalassemia a person has depends on the number of gene mutations they inherit from their parents, and which part of the hemoglobin molecule is affected by mutations. Alpha-thalassemia involves four genes involved in making the alpha-hemoglobin chain, while beta-thalassemia involves two genes in making the beta-hemoglobin chain. Those at high risk of thalassemia are individuals with a family history of the disease and people of Mediterranean and Southeast Asian ancestry, as well as African-Americans.
If a person inherits one mutated gene, they may not experience any signs or symptoms of thalassemia but can pass it on to their children. Inheriting two mutated genes leads to mild symptoms while inheriting three mutated genes results in symptoms ranging from moderate to severe. Babies born with four mutated genes usually have severe anemia and are either stillborn or die shortly after birth, requiring a lifelong blood transfusion.
Thalassemia patients may experience an iron overload in their bodies due to frequent blood transfusions or the disease itself. Excessive iron can damage their endocrine system, heart, and liver, and they are also at high risk of infections. Thalassemia can be prevented if a person is a carrier, by talking to a doctor before planning pregnancy to assess the risk of their child being thalassemia minor or major.
Thalassemia is more common in certain populations, and its awareness is essential to prevent it and its complications. The World Thalassemia Day aims to raise awareness about the disease and its prevention. It is crucial to seek medical advice if one experiences any symptoms of thalassemia or has a family history of the disease. With early diagnosis and proper treatment, individuals with thalassemia can lead a healthy life.
