– Thalassemia is a group of inherited blood disorders that affect the production of hemoglobin, the protein that carries oxygen in the blood People with thalassemia have low levels of hemoglobin and red blood cells, which can cause anemia, fatigue, weakness, and other complications.
–There are two main types of thalassemia: alpha and beta. These types are named after the two parts of hemoglobin: alpha and beta globin chains.
People with alpha thalassemia have a problem with the alpha globin genes, while people with beta thalassemia have a problem with the beta globin genes.
– The severity of thalassemia depends on how many and which genes are affected. People who inherit one or two abnormal genes may have no symptoms or mild anemia. They are called carriers or have thalassemia trait or minor. People who inherit three or four abnormal genes may have moderate to severe anemia and need regular blood transfusions. They have thalassemia intermedia or major.
– Thalassemia is more common in people from certain regions of the world, such as Asia, the Middle East, Africa, and the Mediterranean.
– It is passed from parents to children through genes. If both parents are carriers of thalassemia, there is a 25% chance that their child will have thalassemia major.
🔅 Diagnosis and treatment of Thalassemia:
– Thalassemia can be diagnosed by a blood test that measures the amount and type of hemoglobin and red blood cells. Sometimes, a genetic test may be done to confirm the diagnosis or to screen for carriers.Prenatal testing can also detect thalassemia in unborn babies.
– The treatment of thalassemia depends on the type and severity of the condition. Some people may only need to take iron supplements or folic acid to help their body make more red blood cells. Others may need regular blood transfusions to replace their damaged red blood cells. Blood transfusions can cause iron overload, which can damage the organs. To prevent this, people with thalassemia may need to take medications called chelators that remove excess iron from the body.
– Some people with severe thalassemia may benefit from a bone marrow transplant, which is a procedure that replaces the faulty bone marrow cells with healthy ones from a donor. This can cure thalassemia, but it also has risks and complications, such as graft-versus-host disease, infection, or rejection.
People with thalassemia need to follow a healthy lifestyle and monitor their condition regularly. They should eat a balanced diet, avoid iron-rich foods or supplements, exercise moderately, protect themselves from infections, and take their recommended vaccines. They should also see their doctor for regular check-ups and tests.
– Thalassemia is a serious but manageable condition that affects millions of people around the world. With proper care and treatment, people with thalassemia can live long and productive lives.
🔅 The difference between alpha and beta thalassemia:
– The difference between alpha and beta thalassemia is based on the type of globin chain that is affected by a genetic mutation. Globin chains are the protein components of hemoglobin, the molecule that carries oxygen in the blood.
– There are two types of globin chains: alpha and beta. Each hemoglobin molecule consists of four globin chains: two alpha and two beta.
– Alpha thalassemiais caused by reduced or absent synthesis of alpha globin chains, and beta thalassemia is caused by reduced or absent synthesis of beta globin chains.
–This leads to an imbalance of globin chains and affects the structure and function of hemoglobin. Depending on the number and severity of the mutations, alpha and beta thalassemia can have different subtypes and clinical manifestations.
–Some of the main differences between alpha and beta thalassemia are:
• Alpha thalassemia is more common in people of African and Southeast Asian descent, while beta thalassemia is more common in people of Mediterranean, African, and Southeast Asian descent.
• Alpha thalassemia is caused by deletions of one or more of the four alpha globin genes, while beta thalassemia is caused by point mutations or insertions in one or both of the two beta globin genes.
• Alpha thalassemia can have four subtypes: silent carrier (one gene deleted), trait (two genes deleted), hemoglobin H disease (three genes deleted), and hydrops fetalis (four genes deleted). Beta thalassemia can have three subtypes: trait (one gene mutated), intermedia (both genes mildly mutated), and major (both genes severely mutated).
• Silent carriers of alpha thalassemia and people with beta thalassemia trait are usually asymptomatic and do not require treatment. People with alpha or beta thalassemia intermedia have mild to moderate anemia and may need occasional blood transfusions. People with hemoglobin H disease or beta thalassemia major have severe anemia and need regular blood transfusions.
• People with alpha thalassemia may have excess beta globin chains that form abnormal hemoglobins, such as hemoglobin H or hemoglobin Bart's. These hemoglobins have low affinity for oxygen and can cause tissue hypoxia. People with beta thalassemia may have excess alpha globin chains that precipitate in the red blood cells and cause hemolysis.
• People with alpha or beta thalassemia who receive blood transfusions are at risk of iron overload, which can damage the heart, liver, and endocrine organs. They may need chelation therapy to remove the excess iron from their body.
• People with beta thalassemia major may benefit from bone marrow transplantation, which can cure the condition by replacing the faulty bone marrow cells with healthy ones from a donor. This option is not available for people with alpha thalassemia major, as they usually die before birth or shortly after.
🔅 Prevention and treatment of Thalassemia:
– There hasn't been a discovery on how to prevent thalassemia, since it is passed from parents to children through genes (genetic) 🧬 However, people who are carriers of thalassemia or have a family history of the condition can consult a genetic counselor before having children to understand the risks and options.
– The treatment of thalassemia depends on the type and severity of the condition. Some people with mild forms of thalassemia do not need treatment, while others may need to take supplements, such as folic acid, to help their body make more red blood cells that carry oxygen.
– People with moderate to severe forms of thalassemia may need regular blood transfusions to provide them with healthy red blood cells that can carry oxygen. However, blood transfusions can cause a buildup of iron in the blood, which can damage the organs. To prevent this, people with thalassemia may need to take medications called chelators that remove excess iron from the body.
– Some people with severe thalassemia may benefit from a stem cell transplant, which is a procedure that replaces the faulty bone marrow cells with healthy ones from a donor. This can cure thalassemia, but it also has risks and complications, such as infection or rejection.
– People with thalassemia can also manage their condition by following a healthy lifestyle and monitoring their health regularly. They should eat a balanced diet, avoid iron-rich foods or supplements, exercise moderately, protect themselves from infections, and take their recommended vaccines. They should also see their doctor for regular check-ups and tests.
