Betathalassemia is a blood disorder that reduces the bodys production of hemoglobin. Thalassemia is a type of thalassemia that is caused by a deficiency of the alpha globin protein. Laboratory diagnosis of hemoglobinopathies and thalassemia. Hemoglobin consists of four protein subunits, typically two subunits of betaglobin and two subunits of another protein called alphaglobin. Both of these genes provide instructions for making a protein called alphaglobin, which is a component subunit of hemoglobin people have two copies of the hba1 gene and two copies of the hba2 gene in each cell. Pdf on mar 21, 2012, vefik arica and others published alpha thalassemia disorders find, read and cite all the research. There are two copies of the hemoglobin alpha gene hba1 and hba2, which each encode an. This leads to a reduction in the number and ability of the red blood cells. What does it mean to be a carrier of alpha plus thalassemia. Kanavakis e, traegersynodinos j, lafioniatis s, et al. The alpha chain is involved in alpha thalassemia and the beta chain is affected in the more familiar beta thalassemia. Describe the clinical and laboratory features of beta thalassemia minor trait and beta thalassemia major and the different types of alpha thalassemia.
Alphathalassemia is one of the most common hemoglobin genetic abnormalities and is caused by the reduced or absent production of the alpha globin chains. Etiology mutation in the dna of cells that produce hemoglobin inheritance 5. Carrying the gene for alpha plus thalassaemia does not cause any illness, however it. Beta0 thalassemia refers to the absence of production of beta globin.
Difference between alpha and beta thalassemia compare the. This student paper was written as an assignment in. Started in 1995, this collection now contains 6760 interlinked topic pages divided into a tree of 31 specialty books and 732 chapters. Introduction to alpha thalassaemia city hospital, birmingham. Beta thalassemia is more common among people of mediterranean, middle eastern, southeast asian, or indian ancestry. A total of 6946 subjects were enrolled for evaluating alpha beta thalassemia from 2012 to 2018. Jul 29, 2015 alpha thalassemia is a blood disorder that reduces the bodys production of hemoglobin. Jan 11, 2018 the alpha chain is involved in alpha thalassemia and the beta chain is affected in the more familiar beta thalassemia. Like the silent carrier, alpha thalassemia trait is not a disease and does not affect your health. Nov 22, 2019 in thalassemia, the production of either the alpha or beta chains are reduced, resulting in either alpha thalassemia or beta thalassemia. Alpha thalassemia alpha thalassemia is due to impaired or absent production of alpha globin chains, which leads to a relative excess of gamma globin chains in the fetus and newborn, and excess beta globin chains in children and adults. Thalassemias are a group of inherited microcytic, hemolytic anemias characterized by defective hemoglobin synthesis. The hemoglobin protein affected in alpha thalassemia is the alpha globin. A positive family history of alpha or betathalassemia is an impor.
It is normal for people whose ancestors come from these areas to carry mild alpha thalassaemia, so you should not worry about it. Thalassemia is an inherited blood disorder that is passed down through the parents genes. Individuals with thalassemia major have severe anemia and hepatosplenomegaly. Alphathalassemia types, causes, diagnosis, treatment. Carriers of alpha thalassemia usually have no signs or symptoms. Betathalassemia genetic and rare diseases information. Depending on the severity of symptoms three categories may be identified.
Combination of a triple alphaglobin gene with beta. Carrier frequencies of beta thalassemia vary from 1% to 5% while prevalence data for alpha thalassemia are scant. This is the main difference between alpha and beta thalassemia. Alpha thalassemia is caused by reduced or absent production of alpha globin subunits, while beta thalassemia is caused by reduced or absent production of beta globin subunits. Family history and ancestry are factors which increase the risk of beta thalassemia. Other types include beta thalassaemia intermedia, alpha thalassaemia major and haemoglobin h disease. Sep 29, 2017 thalassemia is a genetic disease that results in abnormal globin synthesis, therefore abnormal hemoglobin formation, and microcytic anemia. Alpha thalassemia major is a very serious disease of severe anemia characterized by. The degree of excess nonfunctional alpha chains is the major predictor of disease severity. Your body makes less of the beta chains, but is still able to make plenty of.
Beta thalassemia trait and beta thalassemia disease. Those that result in the functional depletion of both pair of. Adult hemoglobin composed two alpha and two beta chains. Jan 01, 2015 beta thalassemia is caused by changes mutations in the hbb gene while alpha thalassemia is caused by mutations in the hba1 and or hba2 genes. People with betathalassemia have anemia, which can cause paleness, weakness, fatigue, and more serious complications.
Download as ppt, pdf, txt or read online from scribd. In beta thalassemia, the gene for making beta globin chains doesnt work normally. Alpha thalassemia nord national organization for rare. Cyprus is the third largest island in the mediterranean, having 633,000 inhabitants. Betathalassemia prevalence, pathophysiology and inheritance.
Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. The inheritance of alphathalassemia, however, is more complex because of the involvement of one or more genes. Alpha thalassemia usually caused by gene deletion beta thalassemia usually caused by mutation. Instructions and contact information for referring a thalassemia patient to our center are also included.
However, they can pass the faulty genes on to their children. A total of 6946 subjects were enrolled for evaluating alphabeta thalassemia from 2012 to 2018. Depending on family history, if a persons parents or grandparents had beta thalassemia major or intermedia, there is a 75% 3 out of 4 probability see inheritance chart at top of page of. Alpha thalassemia normal production of alpha chains is absent which results in excess production of gamma globin chains in the fetus and newborn or beta globin chains in children and adults. Normal hemoglobin consists of two alpha chains and two beta chains. Alpha thalassemia trait a person with two working copies of the alpha globin gene has alpha thalassemia trait. If mutations allows production of a small amount of functional. Betathalassemia is caused by reduced or absent synthesis of the betaglobin chains of the adult hemoglobin tetramer hba, which is made up of two. Impaired 1, 2, 3, or 4 alpha globin chain productions can lead to a comparative excess of the beta globin chains. On the other hand, deletion of three genes results in significant production of hemoglobin h consisting of four beta chain. Alpha thalassemia intermedia, or hemoglobin h disease, causes. The purpose of this study was to appraise the problem of thalassaemia in cyprus, where preliminary evidence had indicated that both forms of thalassemia, alpha and beta, were common. Alphathalassemia is particularly common among people of african, mediterranean, or southeast asian ancestry. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications.
There are two main forms of betathalassemia, classified based on. This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. Thalassemia is a common cause of anemia, especially microcytic anemia. Grasp the cellular pathogenesis of alpha and beta thalassemias. Thalassemia is due to a deficit or absent production of. Difference between alpha and beta thalassemia compare. Silent carrier state the mildest form of beta thalassemia. There are different types of thalassaemia, which can be divided into alpha and beta thalassaemias. Aug 23, 2018 thalassemia is a blood disorder that is caused by dna mutations in cells that are responsible for producing haemoglobin. Dec 12, 2011 mutated thalassemia alpha 0 thalassemia more than 20 mutations have been found. Alphathalassemia types, causes, diagnosis, treatment and. In alpha thalassemia, the amount of alpha chains is decreased, and in betathalassemia, the number of beta chains is decreased. The propositus of the first family had mild cooleys anemia and was believed to have one. Beta thalassemia disorders result from decreased production of beta globin chains, resulting in relative excess of alpha globin chains.
Alpha thalassemia trait causes the size of the red blood cells to be smaller than usual. Alpha and beta thalassemia american family physician. Homozygotes betathalassemia major or cooleys anemia develop severe anemia and bone marrow hyperactivity. Learn how to differentiate alpha and beta thalassemia. The more mutated genes, the more severe your thalassemia. There are two main types of thalassemia, alpha thalassemia and beta thalassemia.
The most severe form of alpha thalassemia major causes stillbirth death of the unborn baby during birth or the late stages of pregnancy children born with beta thalassemia major cooley anemia are normal at birth, but develop severe anemia during the first year of life other symptoms can include. Learn how to distinguish alpha thalassemia and beta thalassemia. Heterozygotes for a single gene defect results in silent alpha thalassemia state. Potential fetal therapies are available, including transfusing the developing fetus with red blood cells to. Alphathalassemia genetic and rare diseases information. Both are inherited in an autosomal recessive manner.
Alpha thalassemia major with hemoglobin barts usually results in fatal hydrops fetalis. Dharmesh chandra sharma 1, anita arya 2, purni ma kishor 3. Two types of alpha thalassemia can cause health problems. Ppt thalassemia powerpoint presentation free to download. Alpha thalassemia, the heterozygous state with a single gene for alpha thalassemia, causes no symptoms or merely mild anemia because there is another gene still able to make alpha chains. Alpha thalassemia in alphathalassemia, the alpha genes are deleted. Alpha thalassemia alpha thalassemia is the result of changes in the genes for the alpha globin component of hemoglobin. Alpha thalassemia major atm occurs when all four genes are nonfunctioning. Beta thalassemia major causes hemolytic anemia, poor. Arabic, cambodian, chinese, farsi, lao, tagalog, thai, and vietnamese. Thalassemia can be categorized broadly into two main categories as alpha thalassemia and beta thalassemia. Heterozygotes with defects in two of the four genes result in alpha thalassemia trait, and tend to develop mild to moderate microcytic anemia but with no symptoms. People who inherit hemoglobin genes that are altered or missing from one parent but inherit normal genes from the other parent are called carriers.
Alpha thalassemia is a result of decreased production of alpha globins. Alpha thalassemia multiplex ligation dependent probe amplification mlpa and multiplex pcr alpha globin sequencing beta thalassemia beta globin sequencing the test examines the complete beta globin coding sequence, the splice sites and other intronic regions known to harbor mutations, the proximal promoter region. Beta thalassemia is one type of thalassemia, a blood disorder caused by dna mutations in cells that create hemoglobin. Understand the pathophysiologic principles underlying treatment of beta thalassemia major. The word thalassemia comes originally from the greek. In alpha thalassemia, the amount of alpha chains is decreased, and in beta thalassemia, the number of beta chains is decreased. Heterozygotes with defects in two of the four genes result in alpha thalassemia trait, and tend to develop mild to. Translations of brochures about thalassemia, thalassemia trait, and hemoglobin h disease are available here in pdf format for the following languages. While the excess beta globin chains are capable of forming soluble homotetramers beta4, hbh, they are. It is passed down from one or both parents through their genes. Alpha thalassemia is one of the most common hemoglobin genetic abnormalities and is caused by the reduced or absent production of the alpha globin chains. When the words trait, minor, intermedia, or major are used, these words describe how severe the thalassemia is.
A rare example that coinheritance of a severe form of betathalassemia and alphathalassemia interact in a synergistic manner to balance the phenotype of classic thalassemic syndromes. Thalassemia in arab populations alpha and beta thalassemia are endemic in almost all arab countries probably due to the historical presence of malaria in the region and the high level of consanguinity. Betathalassemia associated with other hb anomalies. Characterized by two defective genes but almost no.
Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Alpha thalassemia is particularly common among people of african, mediterranean, or southeast asian ancestry. Results in microcytic, hypochromic anemias of varying severity. Its also possible to be a carrier of thalassaemia, also known as having the thalassaemia trait. The interaction of hbe and betathalassemia results in thalassemia phenotypes ranging from a condition indistinguishable from thalassemia major to a mild form of thalassemia intermedia. Betathalassemia is more common among people of mediterranean, middle eastern, southeast asian, or indian ancestry. Beta thalassemia trait when you have one working copy of the beta globin gene and one nonworking copy you have beta thalassemia trait. A person who has thalassemia trait may not have any symptoms at all or may have only mild anemia, while a person with thalassemia.
Alpha thalassemia intermedia, or hbh disease, causes microcytic anemia. Our thalassemia research and care update and clinical practice guidelines for physicians is available for download on this page. Thalassemia genetic and rare diseases information center. Alpha thalassemia typically results from deletions involving the hba1 and hba2 genes. Alpha thalassemia is caused by reduced or absent production of alphaglobin subunits, while beta thalassemia is caused by reduced or absent production of betaglobin subunits. Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin the protein in red blood cells that carries oxygen. Combination of a triple alphaglobin gene with betathalassemia in a gypsy family. Alpha thalassemia minor and beta thalassemia minor, also known as alpha thalassemia trait or beta thalassemia trait, are common conditions in many demographics. Alpha thalassemia major is almost uniformly fatal in utero without intervention. Silent carriers of alpha thalassemia and persons with alpha or beta thalassemia trait are asymp tomatic and require no treatment.