Alpha ThalassemiaSymptoms, Doctors, Treatments, Advances & More
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.
Center For Complex Obstetric Medicine
Dr. Mary E. Norton is a perinatologist and clinical geneticist who cares for pregnant patients who have a fetus with a birth defect or genetic disorder or are at risk for such a condition. She performs obstetric ultrasounds, counsels patients with abnormal ultrasounds and performs prenatal tests like amniocentesis and chorionic villus sampling. She also interprets complex genetic tests, especially when abnormalities are found. Norton's areas of interest in research include applying new genetic tests to prenatal diagnosis and fetal disease, as well as patient decision-making around genetic testing and obstetrical ultrasound. She is co-director of the Center for Maternal-Fetal Precision Medicine at UCSF, as well as the David E. Thorburn, M.D. and Kate McKee Thorburn Endowed Chair in Perinatal Medicine and Genetics at UCSF. Norton earned her medical degree at the University of Washington. She completed a residency in obstetrics and gynecology at Tufts University followed by a fellowship in maternal-fetal medicine and clinical genetics at UCSF. After several years at Brigham and Women's Hospital and Harvard Medical School, she returned to San Francisco and joined UCSF Medical Center in 1998. 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.
Center For Complex Obstetric Medicine
Dr. Teresa N. Sparks is an obstetrician who specializes in maternal-fetal medicine, managing the health concerns of both mother and fetus through all stages of pregnancy. She cares for women with high-risk pregnancies and those who are considering a high-risk pregnancy. She also specializes in clinical genetics, addressing genetic conditions that affect a woman or baby during pregnancy. Sparks' research investigates the causes of nonimmune hydrops fetalis, a complication of pregnancy that occurs when excessive fluid accumulates in the fetus. Her work focuses on identifying the condition's genetic causes, with the goal of developing more targeted approaches to care both before and after birth. Sparks earned her medical degree at UCSF. She completed a residency through the obstetrics and gynecology program of Brigham and Women's Hospital and Massachusetts General Hospital. She then completed a combined fellowship in maternal-fetal medicine and clinical genetics at UCSF. Sparks is a member of the American College of Obstetricians and Gynecologists, Society for Maternal-Fetal Medicine, American College of Medical Genetics and Genomics, and American Medical Association. 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.
UCSF Benioff Children's Hospital Oakland
Elliott Vichinsky is a Hematologist and an Oncologist 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