John old, in emery and rimoins principles and practice of medical genetics, 20. Beta thalassemia trait when you have one working copy of the beta globin gene and one nonworking copy you have beta thalassemia trait. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Thalassemia major is a severe transfusiondependent anemia. An elevated hb f level is not specific to patients with the beta thalassemia trait. The two main categories of thalassemia are alpha and beta.
The beta form of thalassemia is particularly prevalent among mediterranean peoples, and this geographical association is responsible for its original name. Adult hemoglobin composed two alpha and two beta chains. Learn vocabulary, terms, and more with flashcards, games, and other study tools. If you have beta thalassemia trait, it is possible to pass it to your children. Pallor, irritability, growth retardation, abdominal swelling, and jaundice appear during the sec. For example, a person with betathalassaemia minor has one changed copy of the hbb gene, and one unchanged copy of the gene. Beta thalassemia major symptoms include pale skin, irritability, growth retardation, swelling of the abdomen, and jaundice. Thalassaemia minor can refer to people with either alpha or betathalassaemia. Alphathalassemia genetic and rare diseases information.
Pdf thalassemia is a genetic disorder that involves abnormal haemoglobin formation. The hallmark of betathalassemia is an imbalance in globinchain production in the adult hba molecule. Beta thalassemia patients and carers family members. Patients with hbcbetathalassemia may live free of symptoms and be. Beta thalassemia affects a persons ability to produce hemoglobin, which can result in anemia. Thalassemia intermedia, which appears in early childhood and causes mild to moderate anemia. Silent carrier state the mildest form of beta thalassemia. The fep level is normal in patients with the beta thalassemia trait, but it is elevated in patients with iron deficiency or lead.
Thalassemias are inherited blood disorders characterized by decreased hemoglobin. Persons with beta thalassemia major require periodic lifelong blood transfusions to maintain hemoglobin levels higher than 9. Betathalassemia genetic and rare diseases information. In a study of 31 people, the thalassemia free survival rate 70%, rejection 23%, and mortality 7%.
Betathalassemia is a blood disorder that reduces the bodys production of hemoglobin. The normal adult hemoglobin molecule hb a consists of 2 pairs of chains designated alpha and beta. Key difference alpha vs beta thalassemia thalassemia is a heterogeneous group of disorders caused by inherited mutations that decrease the synthesis of either alpha or beta globin chains, leading to anaemia, tissue hypoxia and red cell hemolysis related to the imbalance in globin chain synthesis. Global annual incidence is estimated at one in 100,000. A gene change in the beta proteins causes beta thalassemia. Alpha thalassemia is caused by alterations mutations in two adjacent genes, the hba1 and the hba2 genes. No restriction needs to be placed on physical activities. There are three types of beta thalassemia, which indicate. The imbalance also leads to medical problems in the bones, bone marrow, and. Complications in thalassaemia patients receiving blood tranfusion hira tahir1,syeda amna shahid1,khawaja tahir mahmood2. In beta thalassemia, the gene change causes an imbalance of hemoglobin proteins. A patient survival guide 2014 josephine bila bone marrow and blood stem cell transplants. Results in microcytic, hypochromic anemias of varying severity. Betathalassemia can lead to an early death for some patients, and there is a clear need for new therapies.
Thalassemia major is the most severe form of beta thalassemia. There are two major forms of thalassemia as alpha thalassemia and beta thalassemia. Although essentially different in clinical presentation patients with. The only cure for betathalassemia is a bone marrow transplant, but finding a match is typically limited to a small percentage of patients. Thalassemia minor also called thalassemia trait may cause no symptoms, but mild anemia and other changes in the blood do occur.
It will cover your experiences and current attitudes, treatments you have experienced or discussed with your medical team and your awareness of new medications and treatments. The name is derived from the greek word thalassa meaning the sea because the condition was first described in populations living near the mediterranean sea. Beta thalassemia is caused by a defect of the gene that controls hemoglobin production. Alpha thalassemia nord national organization for rare. Because they have one functioning copy of the gene, their health is not affected by betathalassaemia. It is a genetic trait passed down from parents to children. In a study of 31 people, the thalassemiafree survival rate 70%, rejection 23%, and mortality 7%.
In beta thalassemia, the heterozygous state called thalassemia minor is accompanied by no symptoms or at most by very mild anemia. Beta thalassemia symptoms, diagnosis, treatments and. Both parents must have beta thalassemia trait or another hemoglobin trait for their child to. There is no approved drug to treat the anemia of betathalassemia. Beta thalassemia involves defects in one or more of the two genes required to make each. A main function of red blood cells is carrying oxygen all throughout the body. Persons with beta thalassemia major are diagnosed during infancy. Hemoglobin is the ironrich, oxygencarrying protein found in red blood cells. This course defines and discusses the disorder beta thalassemia and its genetic mutations that not only differentiate it from alpha thalassemia, but dictate the severity of the disease. Betathalassemia is one of a group of hereditary blood conditions that result from reduced or absent synthesis of the betaglobin chain of. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. Thalassemia is not just one disease but rather a complex series of genetic inherited disorders all of which involve underproduction of hemoglobin. Difference between alpha and beta thalassemia compare.
Thalassemia major, variably referred to as cooleys anemia and mediterranean anemia, thalassemia intermedia and thalassemia minor also called betathalassemia carrier, betathalassemia trait or heterozygous betathalassemia. These hereditary mutations lead to anemia due to low hemoglobin levels and. Thalassemia womens and infants health at mount sinai. Hemoglobin consists of two main protein chains called alpha and beta. Thalassemia is a hemoglobinopathy that is among the most common inherited disorders of hemoglobin production. The term thalassemia is derived from the greek, thalassa sea and haima blood. Betathalassemia is an inherited blood disorder that impairs the bodys ability to produce hemoglobin, the protein in red blood cells that carries oxygen. Most children with thalassemia major appear healthy at birth but, during the first year or two of life, they become. It affects a persons ability to produce hemoglobin, which is the protein in red blood cells that delivers oxygen to all parts of the body. Beta thalassemia trait and beta thalassemia disease. To determine the frequencies of betathalassemia mutations in different states of india and to compare this with the available data in asian indians for. Beta thalassemia is a blood disorder characterized by reduced levels of hemoglobin. Pdf on mar 21, 2012, vefik arica and others published alpha thalassemia disorders find, read and cite all.
Two types of alphathalassemia can cause health problems. A list of books and booklets some are free and downloadable in english about the beta thalassemia major syndrome transfusion. Beta thalassemia in children stanford childrens health. This emedtv segment takes a closer look at this disorder, including information on possible symptoms, treatment options, and inheritance patterns. Thalassemias are common monogenic diseases occurring mostly in mediterranean and southeast asian populations. The disorder is clinically heterogenous because of the different types of. Alphathalassemia is one of the most common hemoglobin genetic abnormalities and is caused by the reduced or absent production of the alpha globin chains. Thalassemia is an inherited disease of faulty synthesis of hemoglobin. Over two million people in the united states carry the genetic trait for thalassemia. Affected individuals may have a mutation or combination of mutations in one gene, two genes, three genes, or all four copies of these. Thalassemia is a type of inherited blood disorder that can cause anemia. Alphathalassemia is a blood disorder that reduces the bodys production of hemoglobin. The difference between beta thalassemia minortrait, beta thalassemia major, and beta thalassemia major variations like beta thalassemia intermedia beta thalassemia minortrait is not a disease.
Iron overload is caused by repeated blood transfusion. People with betathalassemia have anemia, which can cause paleness, weakness, fatigue, and more serious complications. A trait carrier of thalassemia will always be a trait carrier. Stewart turning blood red the fight for life in cooleys anemia 2008 arthur bank genes,blood,and. Thalassemia thalassemia is an inherited blood disorder in which the body produces an abnormal form of hemoglobin which results in excessive destruction of red blood cells and further leads to anemia. The symptoms of thalassemia major generally appear before a. There are two main forms of betathalassemia, classified based. Betathalassemia is an inherited disorder of the blood that affects the hemoglobin inside red blood cells. Beta thalassemia is the most familiar type of thalassemia. In beta thalassemia, the gene for making beta globin chains doesnt work normally. A total of 6946 subjects were enrolled for evaluating alpha beta thalassemia from 2012 to. Beta thalassemia is one type of thalassemia, a blood disorder caused by dna mutations in cells that create hemoglobin.
Beta thalassemia trait and beta thalassemia disease beta thalassemia disease is an inherited blood. Alpha thalassemia alpha thalassemia is the result of changes in the genes. Thalassemiahb c is mostly seen among individuals of african origin. Every person has two copies of the hba1 gene one from each parent and two copies of the hba2 gene also one from each parent. The homozygous form of beta thalassemia thalassemia major is not immediately lethal because there is some production of hb f, which does not contain beta chains. Like all common globin gene disorders sickle cell trait and.
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