Thalassemia
Thalassemia
About Thalassemia
Thalassemia is an inherited blood disorder characterized by abnormal production of hemoglobin, the protein responsible for carrying oxygen in red blood cells. It is a genetic condition that affects the production of either alpha or beta globin chains, the building blocks of hemoglobin. This disruption in hemoglobin production leads to inadequate or abnormal red blood cells, resulting in various symptoms and complications.
This type of thalassemia occurs when there is a reduced or absent production of alpha globin chains. Depending on the number of affected genes, alpha thalassemia can be classified into four subtypes: silent carrier, alpha thalassemia trait, hemoglobin H disease, and the most severe form, known as hydrops fetalis.
Beta thalassemia occurs when there is reduced or absent production of beta globin chains. Similar to alpha thalassemia, beta thalassemia has different subtypes, including thalassemia minor (trait), thalassemia intermedia (moderate form), and thalassemia major (also called Cooley’s anemia), which is the most severe form.
Transmission of Thalassemia
Thalassemia is inherited in an autosomal recessive pattern, meaning that both parents must carry the gene mutation for their child to develop the disorder. If both parents are carriers, each child has a 25% chance of having thalassemia major, a 50% chance of being a carrier (thalassemia trait), and a 25% chance of not inheriting the gene mutation.
Lifelong Blood Dependence
Thalassemia major, the most severe form of the disorder, requires lifelong blood transfusions. Individuals with thalassemia major are unable to produce sufficient healthy red blood cells, leading to severe anemia and other complications. Regular blood transfusions are necessary to provide the patient with healthy red blood cells and alleviate symptoms. However, frequent blood transfusions can result in iron overload in the body, requiring additional treatment through chelation therapy to remove excess iron.
Apart from blood transfusions, individuals with thalassemia may require other supportive treatments, such as folic acid supplementation, to help with red blood cell production. In some cases, stem cell transplantation may be considered as a potential cure for thalassemia, particularly in suitable candidates, such as those with a compatible donor.
It’s important to note that with advancements in medical treatments and comprehensive care, individuals with thalassemia can lead fulfilling lives. Regular monitoring, proper management of iron overload, and adherence to treatment plans, including transfusions and medications, are crucial for ensuring optimal health and quality of life for thalassemia patients