What causes beta thalassemia?

What causes beta 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.

Does beta thalassemia trait cause anemia?

In beta thalassemia, the gene change causes an imbalance of hemoglobin proteins. The imbalance causes anemia because: Red blood cells break down faster than normal.

What happens beta thalassemia?

Beta thalassemia major causes major problems and can result in early death. Complications may include delayed growth, bone problems causing facial changes, liver and gall bladder problems, enlarged spleen, enlarged kidneys, diabetes, hypothyroidism, and heart problems.

How does thalassemia happen?

Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in hemoglobin production. You inherit this genetic abnormality from your parents. If only one of your parents is a carrier for thalassemia, you may develop a form of the disease known as thalassemia minor.

Is beta thalassemia trait disease?

Beta thalassemia trait is inherited from one’s parents, like hair or eye color. Normally, beta thalassemia trait does not cause any health problems. Beta thalassemia trait is also known as beta thalassemia minor.

Is beta thalassemia an autoimmune disorder?

It was generally assumed that the β-thalassemia heterozygotes do not bear significant medical risks except a mild microcytic anemia. Nonetheless, increasing number of reports associate β-thalassemia trait with autoimmune conditions, nephritis, diabetes, arthritis, fibromyalgia and asthma.

How long do thalassemia patients 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.

Who is at risk of thalassemia?

Certain ethnic groups are at greater risk: Alpha thalassemia most often affects people who are of Southeast Asian, Indian, Chinese, or Filipino descent. Beta thalassemia most often affects people who are of Mediterranean (Greek, Italian and Middle Eastern), Asian, or African descent.

How do you know if you have thalassemia?

Thalassemia signs and symptoms can include:

• Fatigue.
• Weakness.
• Pale or yellowish skin.
• Facial bone deformities.
• Slow growth.
• Abdominal swelling.
• Dark urine.

How does beta globin m affect red blood cells?

Mutations in specific regions of the HBB gene lead to an atypical version of beta-globin known as hemoglobin M. Hemoglobin M interacts abnormally with heme molecules, which impairs the uptake of oxygen by red blood cells. As a result, a reduced amount of oxygen is delivered to cells throughout the body.

What causes hemoglobin to be abnormal in sickle cell anemia?

Sickle hemoglobin is not like normal hemoglobin. The mutations in the gene cause a problem when oxygen levels in the blood are lower, which occurs once the hemoglobin has delivered oxygen to the cells in the body’s tissues. With less oxygen, the abnormal hemoglobin S gene can cause rigid, nonliquid protein strands to form within the red blood cell.

What causes methemoglobin type in red blood cells?

Mutations in the HBB gene cause methemoglobinemia, beta-globin type. Hemoglobin consists of four protein subunits and four iron-containing molecules called heme. Heme molecules are necessary for red blood cells to pick up oxygen in the lungs and release oxygen to other cells in the body.

What causes high hemoglobin levels in the blood?

Hemoglobin Hemoglobin is the oxygen-carrying protein molecule in the blood, specifically in the red blood cells. High hemoglobin count may be caused by dehydration, smoking, emphysema, tumors, or abuse of Epogen.