Alpha Thalassemia Overview
Learn About Alpha Thalassemia
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.
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Mary Norton is an Obstetrics and Gynecologist and a Medical Genetics provider in San Francisco, California. Dr. Norton is rated as an Elite provider by MediFind in the treatment of Alpha Thalassemia. Her top areas of expertise are Fetal Edema, Hydrops Fetalis, Alpha Thalassemia, and Hemolytic Disease of the Newborn.
Teresa Sparks is a Reproductive Medicine specialist and an Obstetrics and Gynecologist in San Francisco, California. Dr. Sparks is rated as an Elite provider by MediFind in the treatment of Alpha Thalassemia. Her top areas of expertise are Fetal Edema, Hydrops Fetalis, Hemolytic Disease of the Newborn, and Alpha Thalassemia.
Elliott Vichinsky is a Pediatric Hematologist Oncology provider in Oakland, California. Dr. Vichinsky is rated as an Elite provider by MediFind in the treatment of Alpha Thalassemia. His top areas of expertise are Congenital Hemolytic Anemia, Hemoglobinopathy, Hemolytic Anemia, Splenectomy, and Bone Marrow Transplant.
Summary: The purpose of this research is to develop and validate a single gene Non-Invasive Prenatal Test. The development of this investigational single-gene noninvasive prenatal testing (sgNIPT) for conditions such as cystic fibrosis (CF), spinal muscular atrophy (SMA), Sickle cell disease, alpha thalassemia (a-thalassemia) and beta thalassemia (b-thalassemia) could provide information about the possibil...
Summary: Brief Summary: Nonimmune hydrops fetalis (NIHF) is a potentially fatal condition characterized by abnormal fluid accumulation in two or more fetal compartments. Numerous etiologies may lead to NIHF, and the underlying cause often remains unclear (1). The current standard of genetic diagnostic testing includes a fetal karyotype and chromosomal microarray (CMA), with an option to pursue single gene ...
Published Date: December 02, 2022
Published By: National Institutes of Health