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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Reese Clark is a Neonatologist in Covington, Virginia. Dr. Clark has been practicing medicine for over 43 years and is rated as an Experienced provider by MediFind in the treatment of Alpha Thalassemia. His top areas of expertise are Premature Infant, Bronchopulmonary Dysplasia, Necrotizing Enterocolitis, Patent Ductus Arteriosus, and Gastrostomy.
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Cecilia Maccallum is a Hematologist and an Oncologist in Lynchburg, Virginia. Dr. Maccallum and is rated as an Advanced provider by MediFind in the treatment of Alpha Thalassemia. Her top areas of expertise are Breast Cancer, Paget Disease of the Breast, Lynch Syndrome, Colorectal Cancer, and Bone Marrow Aspiration. Dr. Maccallum is currently accepting new patients.
Centra Medical Group LLC
Stefan Gorsch is a Hematologist Oncology provider in Lynchburg, Virginia. Dr. Gorsch and is rated as an Advanced provider by MediFind in the treatment of Alpha Thalassemia. His top areas of expertise are Childhood Iron Deficiency Anemia, Paget Disease of the Breast, Chronic Lymphocytic Leukemia (CLL), Iron Deficiency Anemia, and Bone Marrow Aspiration. Dr. Gorsch is currently accepting new patients.
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: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...
Published Date: December 02, 2022
Published By: National Institutes of Health