View Main Condition: Thalassemia
Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body.
Alpha thalassemia typically results from deletions involving the HBA1 and HBA2 genes. Less commonly, changes to the DNA sequence in or near these genes cause alpha thalassemia. Such changes are often referred to as nondeletion variants. Both the HBA1 and HBA2 genes provide instructions for making a protein called alpha-globin, which is a component (subunit) of hemoglobin.
Alpha thalassemia is a fairly common blood disorder worldwide. Thousands of infants with Hb Bart syndrome and HbH disease are born each year, particularly in Southeast Asia. Alpha thalassemia also occurs frequently in people from Mediterranean countries, Africa, the Middle East, India, and Central Asia.
The inheritance of alpha thalassemia is complex. Each person inherits two alpha-globin alleles from each parent. If both parents are missing at least one alpha-globin allele, their children are at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia trait. The precise risk depends on how many alleles are missing and which combination of the HBA1 and HBA2 genes is affected.
Teresa Sparks is an Obstetrics and Gynecologist and a Neonatologist in Fremont, California. Sparks has been practicing medicine for over 14 years and is rated as an Elite expert by MediFind in the treatment of Alpha Thalassemia. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Fetal Edema, Hydrops Fetalis, Hemolytic Disease of the Newborn, and Alpha Thalassemia. Sparks is currently accepting new patients.
Elliott Vichinsky is a Pediatric Hematologist Oncology specialist and a Pediatrics expert in Oakland, California. Vichinsky is rated as an Elite expert by MediFind in the treatment of Alpha Thalassemia. He is also highly rated in 14 other conditions, according to our data. His top areas of expertise are Hemoglobinopathy, Congenital Hemolytic Anemia, Hemolytic Anemia, and Anemia. Vichinsky is currently accepting new patients.
Paloma Ropero practices in Madrid, Spain. Ropero is rated as an Elite expert by MediFind in the treatment of Alpha Thalassemia. She is also highly rated in 7 other conditions, according to our data. Her top areas of expertise are Alpha Thalassemia, Thalassemia, Hemoglobinopathy, and Congenital Hemolytic Anemia.
Summary: The primary purpose of this study is to compare the effect of mitapivat versus placebo on transfusion burden in participants with transfusion-dependent alpha- or beta-thalassemia (TDT).
Summary: The primary purpose of this study is to compare the effect of mitapivat versus placebo on anemia in participants with alpha- or beta-non-transfusion dependent thalassemia (NTDT).
Published Date: December 02, 2022Published By: National Institutes of Health