Beta ThalassemiaSymptoms, Doctors, Treatments, Advances & More
Learn About Beta Thalassemia
View Main Condition: Thalassemia
Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.
Variants (also known as mutations) in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component (subunit) of hemoglobin. Hemoglobin consists of four protein subunits, typically two subunits of beta-globin and two subunits of another protein called alpha-globin.
Beta thalassemia is a fairly common blood disorder worldwide. Thousands of infants with beta thalassemia are born each year. Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia.
Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern, which means both copies of the HBB gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. Sometimes, however, people with only one HBB gene variant in each cell develop mild anemia. These mildly affected people are said to have thalassemia minor.
John Porter practices practicing medicine in London, United Kingdom. Mr. Porter is rated as an Elite expert by MediFind in the treatment of Beta Thalassemia. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Thalassemia, Anemia, Congenital Hemolytic Anemia, Splenectomy, and Hormone Replacement Therapy (HRT).
Aurora Internal Medicine
Alok Srivastava is a primary care provider, practicing in Internal Medicine in Waterford, Wisconsin. Dr. Srivastava is rated as an Elite provider by MediFind in the treatment of Beta Thalassemia. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Blood Clots, Hemophilia A, Beta Thalassemia, Kidney Transplant, and Bone Marrow Aspiration. Dr. Srivastava is board certified in American Board Of Internal Medicine.
Antonella Meloni practices practicing medicine in Pisa, Italy. Ms. Meloni is rated as an Elite expert by MediFind in the treatment of Beta Thalassemia. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Beta Thalassemia, Thalassemia, Anemia, Hemoglobinopathy, and Splenectomy.
Summary: The main goal of this study is to find out if the blood disorder called transfusion-dependent beta thalassemia can be safely treated by modifying blood stem cells. This is done by collecting blood stem cells from the subject, modifying those cells, adding a healthy beta globin gene, and then giving them back to the subject. It is hoped that these modified cells will decrease the need for blood tra...
Background: Blood disorders like sickle cell disease and malaria affect many people around the world. Researchers want to learn more about blood disorders. To do this, they need to collect biological samples from people with blood disorders. They also need to collect samples from healthy people.
Published Date: May 01, 2023
Published By: National Institutes of Health