An alpha thalassemia trait that can cause mild anemia. In alpha thalassemia, the severity of thalassemia you have depends on the number of gene mutations you inherit from your parents. Thalassemia affects men and women equally and occurs in approximately 4. In alpha thalassemia, there is a decrease in the number of alpha globin chains whereas in betathalassemia it is the number of beta globin chains that goes down. Some people will need blood transfusions to boost their red blood cell count. The hemoglobin protein affected in alpha thalassemia is the alpha globin. Normal hemoglobin consists of two alpha chains and two beta chains. The more severe the thalassemia, the less hemoglobin the body has, and the more severe the anemia may be.
Alpha thalassemia trait and beta thalassemia trait are two forms of the condition. One way to treat anemia is to provide the body with more red blood cells to. Hemoglobin is an ironrich protein in red blood cells. Beta thalassemia disturbs the balance of beta and alpha hemoglobin chain formation. How is alpha thalassemia differentiated from beta thalassemia. Does this child have both beta and alpha thalassemia trait. Alphathalassemia is a form of thalassemia involving the genes hba1 and hba2. The alpha globin onegene deletion is consistent with alpha thalassemia silent carrier. Difference between alpha and beta thalassemia compare the. When the words trait, minor, intermedia, or major are used, these words describe how severe the thalassemia is. Beta thalassemia occurs as a result of genetic changes to beta globin genes. The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes. If either the alpha or beta part is not made, there arent. Established in 1991, with more than 200 patients on active followup and over 800 patient visits every year, the center is one of the largest thalassemia programs in the country.
The abnormal hemoglobin can lead to anemia not enough rbcs in the body and other medical problems. Patients with the beta thalassemia major usually have larger percentages of hbf and hba2 and absent or very low hba. Thalassemia can cause low levels of red blood cells anemia. Betathalassemia is caused by reduced or absent synthesis of the betaglobin chains of the adult hemoglobin tetramer hba, which is made up of two. Thalassemia major is the most severe form of beta thalassemia. 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. Beta thalassemia is a fairly common blood disorder worldwide.
Alpha thalassemia minor and beta thalassemia minor, also known as alpha thalassemia trait or beta thalassemia trait, are common conditions in many demographics. Beta thalassemia intermedia causes more serious anemia. Alpha and beta thalassemia american family physician. You need both alpha and beta globin to make hemoglobin. Hemoglobin is the part of red blood cells rbcs that carries oxygen throughout the body. Learn how to differentiate alpha and beta thalassemia.
If you have one damaged gene, you may have mild anemia and probably wont need treatment. Here is an article about a region of italy historically associated with thalassemia and malaria may have been protected from covid19. Thousands of infants with beta thalassemia are born each year. Thalassemia is a hereditary condition where your body produces fewer healthy red blood cells. 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. 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. The diagnosis is made by a combination of family studies and the ruling out of both iron deficiency anemia and beta thalassemia trait.
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. If either the alpha or beta part is not made, there arent enough building blocks to make normal amounts of hemoglobin. Betathalassemia genetic and rare diseases information. Ensure not anemic for surgery typical goal hemoglobin 100 anticipate difficult airway in beta thalassemia major. The type of treatment a person receives depends on how severe the thalassemia is. Individuals who have alpha thalassemia trait are identified by microcytosis, erythrocytosis, hypochromia, and mild anemia. Beta thalassemia is where there is a reduced formation of beta polypeptide chains because of mutations in the beta globin genes that occur on chromosome 11. Learn about signs and symptoms and the laboratory tests used to help diagnose thalassemia.
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. Alphathalassemia is due to impaired production of alpha chains from 1,2,3, or all 4 of the alpha globin genes, leading to a relative excess of beta globin chains. Betathalassemia prevalence, pathophysiology and inheritance. The body contains more red blood cells than any other type of cell, and each has a life span of about 4. Thalassemia is not one disease but rather a group of. So this child has alpha thalassemia silent carrier beta thalassemia minor. Thalassemia alpha and beta types seattle childrens. 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. Alpha thalassemia nord national organization for rare. Northern californias comprehensive thalassemia center at childrens hospital oakland, delivers quality care to thalassemia patients. The single alpha gene deletion is consistent with the clinically silent.
In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. Alpha thalassemia, which is characterized by genetic defects in the alphaglobin gene, is another known cause of mild microcytic anemia and. Jun 01, 2016 the elevated hgb a2 and hgb f suggest beta thalassemia trait. In both alpha and beta thalassemia symptoms may be absent or severe depending on which genes and how many are affected. Beta thalassemia occurs most frequently in people from mediterranean countries, north africa, the middle east, india, central asia, and southeast asia. Beta thalassemia is an inherited blood disorder in which the body doesnt make hemoglobin normally. Beta thalassemia occurs when one or both of the two genes that make beta globin dont work or only partly work as they should. There are two main types, alpha thalassemia and beta thalassemia. There are two parts of this protein one is called alpha globin and one is called beta globin. Alpha thalassemia major with hemoglobin barts usually results in fatal hydrops fetalis. Clinical severity may be in part related to the extent of. Diagnosis is typically by blood tests including a complete blood count, special hemoglobin tests, and genetic tests.
Alpha thalassemia refers to a group of disorders characterized by inactivation of alpha globin genes. Those with beta thalassemia minor usually have a mild elevation of hba2 and mild decrease of hba. There are different types of thalassaemia, which can be divided into alpha and beta thalassaemias. The child born with thalassemia major has two genes for beta thalassemia and no normal beta chain gene. 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. Its also possible to be a carrier of thalassaemia, also known as having the thalassaemia trait. The hemoglobin electrophoresis is consistent with beta thalassemia trait. The condition is called alpha thalassemia or beta thalassemia, depending on the specific genes that are missing or changed thalassemia can cause low. It includes alpha thalassemia and beta thalassemia. Thalassemia thaluhseemeuh is a problem with red blood cells that is passed down from parents to children genetic. Beta thalassemia major causes hemolytic anemia, poor. 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. Certain genes control how the body makes hemoglobin. Thalassemia is a type of inherited blood disorder that can cause anemia.
The more mutated genes, the more severe your thalassemia. Nov 22, 2019 in thalassemia, the production of either the alpha or beta chains are reduced, resulting in either alpha thalassemia or beta thalassemia. Thalassemia is an inherited blood disorder that is passed down through the parents genes. Difference between alpha thalassemia and beta thalassemia. Beta thalassemia a blood disorder linked to malaria. To understand more about what is behind the disease, its important to learn about the role that genes play in how your body works.
While the excess beta globin chains are capable of forming soluble homotetramers beta4, hbh, they are. Alpha thalassemia occurs when some or all of the 4 genes that make hemoglobin the alphaglobin genes are missing or damaged. Koerper, md ucsf school of medicine san francisco, ca. Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins. The alpha chain is involved in alpha thalassemia and the beta chain is affected in the more familiar beta thalassemia. Thalassemia is a group of inherited blood disorders passed on through genes that can affect hemoglobin production and cause anemia. Alpha thalassemia is a form of thalassemia involving the genes hba1 and hba2.
When these genes are altered changed or missing, thalassemia occurs. I am wondering about the difference between alpha thalassemia and beta thalassemia. This results in a relative increase in nonfunctional beta globin or gamma globin tetramers and subsequent cell damage. Other types include beta thalassaemia intermedia, alpha thalassaemia major and haemoglobin h disease. On the basis of results, we propose an extended alpha thalassemia genetic mutation panel should be used for screening of children presenting with anemia with suspicion of haemoglobinopathy. Hemoglobin molecules are made of chains called alpha and beta chains that can be affected by mutations. Thalassemia intermedia can result from inheritance of either one or two. Difference between alpha and beta thalassemia compare. When thalassemia is called alpha or beta, this refers to the part of hemoglobin that isnt being made. Homozygous thalassemia is due to inherited unbalanced synthesis of the. This causes a striking deficiency in beta chain production and in the production of hb a.
Dont think there is enough info to know how the different levels trait vs. This is the key difference between alpha and beta thalassemia. Alphathalassemia types, causes, diagnosis, treatment. Beta thalassemia is caused by reduced or absent synthesis of the beta globin chains of the adult hemoglobin tetramer hba, which is made up of two. Hematologic differences between africanamericans and whites. Unexplained finding is that although there is a decrease in the hgb concentration and mcv, there is a normal or slightly increased rbc count. Alpha thalassemia occurs when one or more of the alpha genes are deleted. In betathalassemia, the severity of thalassemia you have depends on which part of the hemoglobin molecule is affected. Read more about alpha and beta thalassemia in this article. In alphathalassemia, the severity of thalassemia you have depends on the number of gene mutations you inherit from your parents. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. Thalassemia is a major cause of microcytic anemia, due to an imbalance in the production of alpha or beta globin. Jan 11, 2018 the alpha chain is involved in alpha thalassemia and the beta chain is affected in the more familiar beta thalassemia.
It is rare for africanamericans to have the cis form of alpha thalassemia, but it can happen. Alpha thalas semia occurs most often in persons of afri. Alpha and beta thalassemia are both conditions caused by genetic mutations. The degree of impairment is based on which clinical phenotype is present how many genes are affected. Anemia associated with hemoglobin sbeta thalassemia. Thalassemia is due to a deficit or absent production of. The second type of alpha thalassemia trait has two missing alpha genes on the same chromosome. It can be prevented if one parent has normal genes, giving rise to screenings that empower carriers to select partners with normal hemoglobin. While the excess beta globin chains are capable of forming soluble homotetramers beta 4, hbh, they are.
It is passed down from one or both parents through their genes. Campbell, md louisiana state university health sciences center, new orleans, louisiana t he thalassemias named from the. One way to treat anemia is to provide the body with more red blood cells to carry oxygen. The symptoms of thalassemia major generally appear before a childs second birthday. Alpha thalassemia deletions found in suspected cases of beta. Thalassemia genetic and rare diseases information center. There are two major forms of thalassemia as alpha thalassemia and beta thalassemia. Beta thalassemia is a hereditary disease allowing for a preventative treatment by carrier screening and prenatal diagnosis. It is one of the few nih funded centers in the nation, and at the.273 1011 290 599 1493 1159 1519 1427 398 604 733 631 1168 17 1193 1568 589 494 958 216 1533 1298 172 1048 675 1540 1223 1523 830 392 498 321 1385 1464 537 1207