Difference between alpha and beta thalassemia compare the. Coinheritance of alphathalassemia, which may normalize the rbc indices. Alpha thalassemia thal uh see mee uh trait is a condition that affects the amount of hemoglobin in the red blood cells. In homozygous pthalassemia, the highly unstable achains precipitate to form inclusions, found most abundantly in the bone marrow and in the peripheral blood. A person who has thalassemia trait may not have any symptoms at all or may have only mild anemia, while a person with thalassemia major may have severe symptoms and may need. Beta thalassemia is an inherited blood disorder in which the body doesnt make hemoglobin normally.
Nov 22, 2019 in thalassemia, the production of either the alpha or beta chains are reduced, resulting in either alpha thalassemia or beta thalassemia. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Your body makes less of the beta chains, but is still able to make plenty of. Therefore, hba 2 determination should always be performed for betathalassemia carrier identification.
Silent carriers of alpha thalassemia and persons with alpha or beta thalassemia trait are asymp tomatic and require no treatment. In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the bodys tissues. The different types of betathalassemia mutation produce clinical and hematological phenotypes of variable severity even in betacarriers the identi. The alpha and beta refer to which haemoglobin gene is affected, and which of the haemoglobin chains is faulty. Alphathalassaemia is a group of disorders of haemoglobin synthesis, caused by mutations or deletions in at least 1 of the 4 alphaglobin genes, leading to variably impaired alphaglobin chain production, with accumulation of the now excess and unpaired betaglobin chains. An alpha thalassemia trait that can cause mild anemia. Alpha and beta as thalassemia presents with a typical type of anaemia, a simple cbc test with particular attention to a certain parameter such as mch can be the first screening test in pregnancy for carrier status.
Individuals who have one or two abnormal alpha globin genes have alpha thalassemia trait. Here is an article about a region of italy historically associated with thalassemia and malaria may have been protected from covid19. 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. The two main types are called alpha and beta thalassemia, depending on which part of globin chain is produced in reduced amounts victor et al.
The red blood cell count rbc and the derived indices are extremely. Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin the protein in red blood cells that carries oxygen. Betathalassemia is caused by reduced or absent synthesis of the betaglobin chains of the adult hemoglobin tetramer hba, which is made up of two. The main types of thalassaemia are called alpha thalassaemia and beta thalassaemia. The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are missing.
However, in alphabeta double heterozygotes, the hba2 concentration remains in the betathalassemia carrier range and thus is diagnostic. Over 200 mutations in the betaglobin gene and 70 mutations in the alphaglobin gene have been. A quantitative decrease in the production of alpha or beta globin chain. Thalassemia quantitative a quantitative decrease in the production of alpha or beta globin chain large deletions, point mutations, small insertiondeletion that leads to decreased transcription or an unstable transcript beta thalassemia results from mutations in beta genes pathogenesis a result of the free alpha subunits. Affected individuals also have a shortage of red blood cells. Large deletions, point mutations, small insertiondeletion. Alpha thalassemia trait all red blood cells contain hemoglobin hee muh glow bin, which carries oxygen from your lungs to all parts of your body. Thha allasssseemmiiaa gttrraaiitt wwhhyy geett tteesstteedd. Hemoglobin is the part of red blood cells rbcs that carries oxygen throughout the body.
The symptoms of thalassemia major generally appear before a childs second birthday. Clinical signs were compatible with severe microcytic anemia requiring bimonthly blood transfusions. Over 200 mutations in the beta globin gene and 70 mutations in the alpha globin gene have been. Laboratory diagnosis of hemoglobinopathies and thalassemia. Thalassemia is a treatable disorder that can be wellmanaged with blood transfusions and chelation therapy. There are at least 4 different and distinct alphathalassemias. Alpha globin is made by four genes, two on each strand of chromosome 16. In beta thalassemia, the gene for making beta globin chains doesnt work normally. Thalassemia refers to a group of autosomal recessive disorders of haemoglobin manufacturing. The condition is called alpha thalassemia or beta thalassemia, depending on the specific genes that are missing or changed. An individual with one abnormal alpha globin gene is said to be a silent carrier of alpha thalassemia. The presence of sickle cell trait with betathalassemia is a major hemoglobinopathy and results in manifestations of sickle cell.
In alpha thalassemia, the severity of thalassemia you have depends on the number of gene mutations you inherit from your parents. Thalassemia thaluhseemeuh is a problem with red blood cells that is passed down from parents to children genetic. The two main types are called alpha and beta thalassemia depending on which part. This condition causes mild to severe anemia, based on the type of alpha thalassemia that is inherited. Beta thalassemia trait when you have one working copy of the beta globin gene and one nonworking copy you have beta thalassemia trait.
The presence of sickle cell trait with beta thalassemia is a major hemoglobinopathy and results in manifestations of sickle cell. People who have this condition can pass the disease on. Jan 11, 2018 the alpha chain is involved in alpha thalassemia and the beta chain is affected in the more familiar beta thalassemia. Apr 30, 2020 thalassemias are inherited blood disorders. Beta thalassemia patients with coinheritance of alpha thalassemia have a milder clinical course due to a less severe alpha beta chain imbalance. This condition, in which one of the four alpha globin genes is missing or. Adult hemoglobin hemoglobin a is made of alpha and beta globins. The alpha chain is involved in alpha thalassemia and the beta chain is affected in the more familiar beta thalassemia.
Dont think there is enough info to know how the different levels trait vs. Alpha thalassemia alpha thalassemia is the result of changes in the genes. Thalassemias occur most often among people of italian, greek, middle eastern, southern asian, and african descent. Individuals with beta thalassemia trait or beta thalassemia minor are heterozygous for beta thalassemia, or simply a carrier of beta thalassemia. In alpha thalassemia, the amount of alpha chains is decreased, and in betathalassemia, the number of beta chains is decreased. In alpha thalassemia there is a reduction in the number of alpha chains. Most cases of hemoglobin variants and alpha thalassemia are detected on. The term thalassemia is derived from the greek, thalassa sea and haima blood. Like the silent carrier, alpha thalassemia trait is not a disease and does not affect your health.
Sickle cell anemia can be identified by hemoglobin electrophoresis alone, while both alpha and beta thalassemia need to be confirmed through molecular. It causes the body to make less hemoglobin than normal. Genetic studies dna analysis to investigate deletions and mutations in the alpha and beta globinproducing gene help in correct diagnosis and improved management in thalassemic patients. Beta thalassemia results from decreased production of betapolypeptide chains. Thalassemia is one of the most common inherited autosomal recessive disorders around the world. 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. Thalassemia is due to decreased production of at least one globin polypeptide chain beta, alpha, gamma, delta which results in unbalanced hemoglobin synthesis. Genetic studies dna analysis to investigate deletions and mutations in the alpha and betaglobinproducing gene help in correct diagnosis and improved management in thalassemic patients. Alpha thalassemia trait is an inherited abnormality of hemoglobin that results in a very mild anemia low blood hemoglobin level and smaller size of the red blood cells. Alpha thalassemia trait causes the size of the red blood cells to be smaller than usual. Thalassemia major is the most severe form of beta thalassemia.
Persons with beta thalassemia major are diagnosed during infancy. Alpha thalassemia normally, alpha globin chain is made by four genes two from each parent, two on each strand of chromosome 16. Normally, people have 4 genes for alpha globin with 2 genes on each chromosome. Treatment of beta thalassemia may include medicines and regular blood transfusions. Over two million people in the united states carry the genetic trait for 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. Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Diagnosis is typically by blood tests including a complete blood count, special hemoglobin tests, and genetic tests. Depending on the type of beta thalassemia, symptoms.
Laboratory diagnosis of thalassemia brancaleoni 2016. Hb h disease, which causes mild to moderately severe anemia, and an enlarged spleen the organ that removes abnormal red blood cells from circulation alpha thalassemia major is the most severe type. May 16, 2016 the most critical step of ngs is the experimental design of the probe set to be used for dna capture. An 8monthold ethnic gypsy male infant with failure to thrive from birth, mild jaundice and splenomegaly. There are two main types of thalassemia, alpha thalassemia and beta thalassemia. Molecular genetics of the thalassemia syndromes uptodate. Hemoglobin is a protein that carries oxygen to the body. If your baby has been identified with hemoglobin barts at birth, this means heshe is probably a health carrier. Definition beta thalassemia is an inherited red blood cell disorder that results in the complete absence or decreased synthesis of the beta globin chains of hemoglobin. There are at least 4 different and distinct alpha thalassemias. 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. A case of nonbetaglobin gene linked beta thalassaemia in a dutch family with two additional alphagene defects. Alpha thalassemia trait a person with two working copies of the alpha globin gene has alpha thalassemia trait. Individuals who have one abnormal beta globin gene.
It is commonly mistaken for iron deficiency which also causes anemia. Thalassemias are a heterogeneous grouping of genetic disorders that result from a decreased synthesis of alpha or beta chains of hemoglobin. People who have this condition can pass the disease on to their children. Pallor, irritability, growth retardation, abdominal swelling, and jaundice appear during the sec. Beta thalassemia trait and beta thalassemia disease. 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. Beta thalassemia major causes hemolytic anemia, poor.
Affected individuals also have a shortage of red blood cells anemia, which can cause pale skin. The condition is called alpha thalassemia or beta thalassemia, depending on the specific genes that are missing or changed thalassemia can cause low. Alpha thalassemia intermedia, or hemoglobin h disease, causes. Beta thalassemia results from decreased production of beta polypeptide chains. The abnormal hemoglobin can lead to anemia not enough rbcs in the body and other medical problems. Normal hemoglobin consists of two alpha chains and two beta chains. Thalassemia genetic and rare diseases information center.
This is the main difference between alpha and beta thalassemia. Alpha thalassemia is caused by a decrease in the number of alpha globin chains being produced. Alphathalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal. There are two main types, alpha thalassemia and beta thalassemia. The most critical step of ngs is the experimental design of the probe set to be used for dna capture. A quantitative decrease in the production of alpha or beta globin chain large deletions, point mutations, small insertiondeletion that leads to decreased transcription or an unstable transcript beta thalassemia results from mutations in beta genes pathogenesis a result of the free alpha subunits two classes. Thalassemia can cause low levels of red blood cells anemia. Alpha thalassemia major with hemoglobin barts usually results in fatal hydrops fetalis. Hemoglobinopathy investigations genetic testing for beta or alpha globin genes 5 thalassemia disease is subcategorized into tdt and ntdt 6 management for tdt patients requires lifelong transfusions and iron chelation to prevent severe consequences of iron overload. Beta thalassemia is a blood disorder that reduces the production of hemoglobin.
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. Carrier frequencies of betathalassemia vary from 1% to. While the excess beta globin chains are capable of forming soluble homotetramers beta4, hbh, they are. A trait carrier of thalassemia will always be a trait carrier. But the homozygous state with both genes for alpha thalassemia is lethal before birth because no alpha chains can be made and without alpha chains there can be no hb f or hb a and without them there can be no life. It is a genetic trait passed down from parents to children. Betathalassemia prevalence, pathophysiology and inheritance. A person who has thalassemia trait may not have any symptoms at all or may have only mild anemia, while a person with thalassemia. Normally, people have 4 genes for alpha globin with 2 genes on each chromosome aaaa. It is important for people with thalassemia to learn how to stay healthy. The more mutated genes, the more severe your thalassemia.
Different people will have different symptoms, based on which type of beta thalassemia is inherited. Alpha thalassemia trait is an inherited abnormality of hemoglobin that results in a very mild anemia low blood hemoglobin level and smaller size of the red blood cells reduced mcv. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body. Beta globin is made by two genes, one on each chromosome 11. Alphathalassaemia symptoms, diagnosis and treatment. This indicates that the baby has alpha thalassemia trait. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood.
Betathalassemia patients with coinheritance of alpha thalassemia have a milder clinical course due to a less severe alphabeta chain imbalance. Thalassemia can be categorized broadly into two main categories as alpha thalassemia and beta thalassemia. 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 due to a deficit or absent production of. Each type of thalassaemia alpha and beta is then classified into more types, according to how severe the condition is. Thalassemia major, variably referred to as cooleys anemia and mediterranean anemia, thalassemia intermedia and thalassemia minor also called beta thalassemia carrier, beta thalassemia trait or heterozygous beta thalassemia.
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