Beta thalassemia is a hereditary disease affecting hemoglobin. I am yasmeen anis, age 23, living with a severe form of thalassemia, an inherited blood disorder in which the red blood cells arent able to get enough oxygen to the. Dna contains both the instructions for stringing amino acids together into proteins, as well as stretches of dna that play important roles in regulating produced protein. Beta thalassemia 9 classical syndromes of beta thalassemia. People with beta thalassemia intermedia have moderately severe anemia and some will need regular blood transfusions and other medical treatment. Thalassemia is an inherited disease of faulty synthesis of hemoglobin. Betathalassemia genetic and rare diseases information. It is suggested that all couples be tested for their thalassaemia carrier. Clinical care options, llc 12001 sunrise valley drive suite 300 reston, va. This causes a striking deficiency in beta chain production and in the production of hb a. Thalassemia in arab populations alpha and betathalassemia are endemic in almost all arab countries probably due to the historical presence of malaria in the region and the high level of consanguinity. Pdf betathalassemias are a group of hereditary blood disorders characterized by anomalies in. It is important for people with thalassemia to learn how to stay healthy. Read personal stories from people living with thalassemia.
People with betathalassemia have anemia, which can cause paleness, weakness, fatigue, and more serious complications. Of thalassemia major patients, 28 50% were boys and 28 50% were girls. It is characterized by hb level between 7 and 10 gdl, mcv between 50 and 80 fl and mch between 16 and 24 pg. Further studies on the isolation and properties of alphachain subunits of haemoglobin. Fiftysix of the patients were followed up with diagnoses of thalassemia major and 11 with thalassemia intermedia. Thalassemia intermedia, which appears in early childhood and causes mild to moderate anemia.
Patients with hbcbetathalassemia may live free of symptoms and be. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Patients with hbcbetathalassemia may live free of symptoms and be diagnosed. Untreated thalassemia major eventuall y leads to death, usually by heart f ailure. In females with amenorrhea, obtain prolactin levels. 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.
Silent carrier state the mildest form of beta thalassemia. Diagnosis by diagnosis by hematologic tests, hemoglobin electrophoresis, and dna analysis. Current and future alternative therapies for betathalassemia major. Beta thalassemia disease beta thalassemia major beta thalassemia disease is a lifelong condition. Thalassemias slide 1 by the end of the lecture, the. Betathalassemia is a blood disorder that reduces the bodys production of hemoglobin.
Learn more about how to live healthy with thalassemia by viewing this guide. This pdf is available for free download from a site hosted by. The severe imbalance of globin chain synthesis alpha beta results in ineffective erythropoiesis and severe microcytic hypochromic anemia. Thalassemia is a group of inherited blood disorders passed on through genes that can affect hemoglobin production and cause anemia. Stewart turning blood red the fight for life in cooleys anemia 2008 arthur bank genes,blood,and courage. A patient survival guide 2014 josephine bila bone marrow and blood stem cell transplants. Ultrastructure of erythrocyte membranes in thalassemia major and minor.
The blood transfusions deliver healthy hemoglobin and rbcs to the body. Beta thalassemia intermedia severity lies between the minor and major. Types thalassemia major cooleys anemia thalassemia minor severe form of beta thalassemia presence of one normal gene and one with a presence of two mutation. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext.
As with about half of all hereditary diseases, an inherited mutation damages the assembly of the messengertype rna mrna that is transcribed from a chromosome. Betathalassemia is an inherited blood disorder that impairs the bodys ability to produce hemoglobin, the protein in red blood cells that carries oxygen. The affected rbcs show microcytosis, hypochromia anisocytosis, poikilocytosis and nucleated rbc. If you have problems viewing pdf files, download the latest version of adobe reader. Betathalassemia dna dna testing for betathalassemia. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. Beta thalassemia trait and beta thalassemia disease. Patients will have severe anemia with hb level beta thalassemia trait will never develop beta thalassemia disease. Chronic transfusion to maintain hemoglobin at the range of 910 gmdl. Treatment of thalassemia major includes regular rbc transfusions, iron chelation and management. Obtain free t4, tsh, acth, and cortisol stimulation tests to assess central hypothalamicpituitary axis function. A variety of thalassemia phenotypes can result from simultaneous inheritance of two different thalassemia mutations from each parent or coinheritance of thalassemia together with structural hemoglobin variants 12. Beta thalassemia disease can only happen when both parents have beta thalassemia trait.
For language access assistance, contact the ncats public information officer. Thalassemia trait iron deficiency anemia rdw normal11. Thalassaemia major is a genetic condition that affects the production of haemoglobin, resulting in severe anaemia. A list of books and booklets some are free and downloadable in english about the beta thalassemia major syndrome transfusion. Learn about signs and symptoms and the laboratory tests used to help diagnose thalassemia. There are two main forms of betathalassemia, classified based on the severity of. Beta thalassemia is a companion course to alpha thalassemia. Beta thalassemia specifically, it is characterized by a genetic deficiency in the synthesis of beta globin chains. If gonadotropins lh, fsh are elevated, there has been primary testicular or ovarian failure. Real stories from people living with thalassemia cdc. Pdf thalassemia is a globin gene disorder that results in a diminished rate of synthesis of one or more of the globin chains. There is a 75% or 3 in 4 chance that the baby will not have this disease. Beta thalassemia major includes a hereditary disorder and is due to genetic deficiency of beta globin chains of hemoglobin.
The term thalassemia is derived from the greek, thalassa sea and haima blood. Transfusiondependence is one essential factor in distinguishing the various thalassemia phenotypes and their severity. When both parents have beta thalassemia trait, there is a 25% or 1 in 4 chance in each pregnancy for the baby to have beta thalassemia disease. Beta thalassemia minor heterozygous disorder resulting in mild hypochromic, microcytic hemolytic anemia. The importance of identifying beta thalassemia trait is that it helps find couples whose children may be born with beta thalassemia disease. Affected patients may require splenectomy for hypersplenism. In beta thalassemia major ie, homozygous beta thalassemia, the production of the betaglobin chains is severely impaired because both betaglobin genes are mutated. To determine the frequencies of betathalassemia mutations in different states of india and to compare this with the available data in asian indians for a comprehensive catalogue of molecular. Treatment options include regular blood transfusions and bone marrow transplants.
It includes alpha thalassemia and beta thalassemia. Persons with beta thalassemia major require periodic lifelong blood transfusions to maintain hemoglobin levels higher than 9. The child born with thalassemia major has two genes for beta thalassemia and no normal beta chain gene. This condition is usually diagnosed within the first six months of life. Carrier frequencies of betathalassemia vary from 1% to. 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. Thalassemia major is characterized by a hypochromic anemia due to a defect in the. 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. If both genes are affected resulting in no or reduced production of beta chain, the patient has thalassemia major when it is absent or thalassemia intermedia. This is the most severe form of beta thalassemia in which there is complete lack of beta protein in the. Survival and disease free survival in various international centres.
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