What is beta thalassemia disease?
What is beta thalassemia disease?
Beta thalassemia is an inherited blood disorder in which the body doesn’t make hemoglobin normally. Hemoglobin is the part of red blood cells (RBCs) that carries oxygen throughout the body. The abnormal hemoglobin can lead to anemia (not enough RBCs in the body) and other medical problems.
What causes β thalassemia?
Beta thalassemia is caused by mutations in the hemoglobin beta (HBB) gene. Individuals with beta thalassemia minor have a mutation in one HBB gene, while individuals with the intermediate and major forms have mutations in both HBB genes.
What are the 4 types of thalassemia?
Alpha thalassemia occurs when some or all of the 4 genes that make hemoglobin (the alpha-globin genes) are missing or damaged….There are 4 types of alpha thalassemia:
- Alpha thalassemia silent carrier.
- Alpha thalassemia carrier.
- Hemoglobin H disease.
- Alpha thalassemia major.
What is C trait?
What is hemoglobin C trait? The normal, and most common, type of hemoglobin is called hemoglobin A. Hemoglobin C trait is when a baby inherited one gene for hemoglobin A from one parent and one gene for hemoglobin C from the other parent. People with hemoglobin C trait are not sick.
What is the treatment for beta thalassemia?
Treatment for beta thalassemia may include: Regular blood transfusions. Medications (to decrease amount of iron in the body, called chelation therapy) Surgical removal of the spleen (if necessary)
How long can a thalassemia patient live?
“Most thalassaemia patients would live up to the age of 25 to 30 years. Improved facilities will help them live up to the age of 60,” said Dr Mamata Manglani, head of pediatrics, Sion hospital.
Which thalassemia is most common?
Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia.
What is Haemoglobin C disease?
Hemoglobin C disease is a blood disorder passed down through families. It leads to a type of anemia, which occurs when red blood cells break down earlier than normal.
What does it mean if you have hemoglobin C trait?
Hemoglobin C trait (hemoglobin C carrier) occurs when a person inherits one gene for hemoglobin C and one gene for hemoglobin A. Individuals with hemoglobin C trait are NOT at risk to develop sickle cell disease or hemoglobin C disease. They generally do NOT have any medical problems and lead normal lives.
How long can you live with thalassemia?
Beta thalassemia intermedia also have a normal life span with proper treatment and management of beta thalassemia. The average life expectancy of a person with beta thalassemia major is about 17 years, most of the time by the age of 30 they die due to iron overload causing cardiac complications.
What blood tests are done to detect thalassemia?
Complete Blood Count To Detect Thalassemia. Complete Blood Count abbreviated as CBC refers to evaluation of cells present in the human blood.
How do you diagnose thalassemia?
If your doctor is trying to diagnose thalassemia, they’ll likely take a blood sample. They’ll send this sample to a lab to be tested for anemia and abnormal hemoglobin. A lab technician will also look at the blood under a microscope to see if the red blood cells are oddly shaped. Abnormally shaped red blood cells are a sign of thalassemia.
What is the difference between thalassemia minor and major?
• Thalassemia major patient is dependent on regular blood transfusion throughout life where as thalassemia minor is a healthy person but with slightly lower hemoglobin level. • Thalassemia major is caused by mutation of both hemoglobin genes where as thalassemia minor is caused by mutation of one gene.
