Alpha thalassemia affects the amount of hemoglobin in the red blood cells. Knowing the prevalence of thalassemia and the frequency of responsible mutations is therefore an important step. Beta thalassemia trait when you have one working copy of the beta globin gene and one nonworking copy you have beta thalassemia trait. Other mecha nisms beside imbalanced globin synthesis might influence the. A total of 6946 subjects were enrolled for evaluating alpha beta thalassemia from 2012 to 2018. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. Jan 11, 2018 the alpha chain is involved in alpha thalassemia and the beta chain is affected in the more familiar beta thalassemia. Janin ini biasanya mengalami keguguran atau meninggal tidak lama setelah dilahirkan. Both alpha and beta thalassemia include the following two forms.
Beta thalassemie heterozygote pdf beta thalassemias are a group of inherited blood disorders. Alpha thalassemia trait a person with two working copies of the alpha globin gene has alpha thalassemia trait. Difference between sickle cell anemia and thalassemia. 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. Thalassemia minor occurs if you receive the faulty gene from only one parent. Fiftysix of the patients were followed up with diagnoses of thalassemia major and 11 with thalassemia intermedia. Adult hemoglobin hemoglobin a is made of alpha and beta globins. 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. The diagnosis of betathalassaemia can be confirmed by the finding of a compensatory rise in the level of haemoglobin a2 to about 47%, which is the most useful screening test.
Haemoglobin f two alpha and two gammaglobin chains is usually also raised. It involves a deficiency of one of the components of hemoglobin, the oxygencarrying molecule in the blood. Thalassemia is due to a deficit or absent production of. 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. Alpha thalassemia trait alpha thalassemia is common in people of african, southern chinese, southeast asian, middle eastern and mediterranean descent. Thalassaemia and malaria thalassaemia and malaria 4. Individuals with thalassemia major have severe anemia and. Campbell, md louisiana state university health sciences center, new orleans, louisiana t he thalassemias named from the. Normal hemoglobin consists of two alpha chains and two beta chains. Thalassemia omim 141800 is the most common inherited disorder of hemoglobin hb synthesis in the world, with gene frequencies varying between 1% and 98% throughout the tropics and subtropics.
Thalassemia intermedia causes moderate, but variable symptoms which can range from mild to moderate anemia with few other symptoms to anemic conditions that require blood transfusion. The following are pdf formatted files in various languages. Hemoglobin is a protein that carries oxygen to the body. Persons with beta thalassemia major are diagnosed during infancy. Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the ironcontaining protein in red blood cells that carries oxygen to cells throughout the body. In general, this results in an excess of alpha globins that form insoluble tetrameric inclusions in the red blood cell. The severity of beta thalassemia depends on whether one or both of the genes fail to work properly. The two main types are called alpha and beta thalassemia, depending on which part of globin. In alpha thalassemia, some of the genes responsible for the coding of the alpha globin chains are deleted. Genetic testing to confirm a diagnosis of alpha or beta thalassemia is considered medically. Individuals with beta thalassemia trait or beta thalassemia minor are heterozygous for beta thalassemia, or simply a carrier of beta 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. Beta thalassemia trait and beta thalassemia disease. Hba2 is composed of two alpha and two deltaglobin chains. There are two major forms of thalassemia as alpha thalassemia and beta thalassemia. People with this form of the disorder are carriers of the disease. Postnatal stem cell transplantation can be a definitive therapy but has numerous complications.
Most beta thalassemia cases result from nucleotide deletions or substitutions. Both are inherited in an autosomal recessive manner. If you need to, you can download the acrobat reader here. Janin yang menderita alpha thalassemia mayor pada awal kehamilan akan mengalami anemia, membengkak karena kelebihan cairan, perbesaran hati dan limpa. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Of thalassemia major patients, 28 50% were boys and 28 50% were girls. Beta thalassemia is an inherited disease characterized by mild to severe anemia, poor growth, enlargement of the spleen, and skeletal changes.
Alpha thalassemia normally, alpha globin chain is made by four genes two from each parent, two on each strand of chromosome 16. Thalassemia refers to a group of autosomal recessive disorders of haemoglobin manufacturing. Although thalassemia mostly affects developing countries, there is limited knowledge of its accurate frequency and distribution in these regions. Two types of alpha thalassemia can cause health problems. Alphathalassemia is a blood disorder that reduces the bodys production of hemoglobin. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body.
Thalassemias slide 1 by the end of the lecture, the student. 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. In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the bodys tissues. This is called the trans form of alpha thalassemia trait. 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 major cooleys which is a severe disease. Beta thalassemia unlike the alpha chain, the production of hemoglobin beta chain is determined by two genes, one from each parent.
Thalassemia major is a severe form that occurs when no alpha or beta protein is made. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Alpha thalassemia is a general term for a group of inherited blood disorders characterized by reduced or absent production of alpha globin subunits, resulting in low levels of hemoglobin that is otherwise fully functional. 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. It can cause anemia ranging from mild to severe and is most commonly found in people of african, middle eastern, chinese, southeast asian, and, occasionally, mediterranean descent. Both parents must have beta thalassemia trait or another hemoglobin trait for their child to. It is passed down from one or both parents through their genes. 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. Thalasemia beta thalasemia beta terjadi jika terdapat mutasi pada satu atau dua rantai globin. Like the silent carrier, alpha thalassemia trait is not a disease and does not affect your health. Beta thalassemia is a hereditary disease allowing for a preventative treatment by carrier screening and prenatal diagnosis. 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. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body. These family studies suggest that the imbalance observed in thalassemia may be.
While the excess beta globin chains are capable of forming soluble homotetramers beta4, hbh, they are. It can be prevented if one parent has normal genes, giving rise to screenings that empower carriers to select partners with normal hemoglobin. Two types of alphathalassemia can cause health problems. The first type of alpha thalassemia trait has one alpha gene missing on each chromosome. Hemoglobin h disease alpha thalassemia information for physicians and other health care providers definition hemoglobin h disease is an inherited hemoglobin disorder in which three of the four alpha globin genes normally present are deleted or have a mutation which impairs alpha globin chain production.
Detection of common deletional alphathalassemia spectrum by. Alpha thalassemia happens when one or more of the genes that control the making of alpha globins is absent or defective. Thalassemia genetic and rare diseases information center. Alpha thalassemia major atm is usually fatal in utero.
Fetal blood transfusions are the only current treatment for supporting the fetus through pregnancy. 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. Laboratory diagnosis of hemoglobinopathies and thalassemia. Newborns need chronic transfusions to replace their red blood cells. Alphathalassemia genetic and rare diseases information. 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. Prevalence of thalassemia in thailand alphathalassemia % athalassemia 1 bangkok 3. Thalassemia is a hereditary blood disorder that results from genetic defects causing deficient synthesis of hemoglobin polypeptide chains. Thalassemia can occur in all ethnic groups but is more common in those of southeast asian descent. Alpha thalassemia trait causes the size of the red blood cells to be smaller than usual. You must inherit the gene defect from both parents to develop thalassemia major. Pdf thalassemia is a globin gene disorder that results in a diminished rate of synthesis of one or more of the globin chains. If your web browser may not display the document correctly, rightclick over the link and select save as to save it on your computer. The forms of beta thalassaemia with normal haemoglobin a2.
Alpha thalassemia is a general term for a group of inherited blood disorders characterized by reduced or absent production of alphaglobin subunits, resulting in low levels of hemoglobin that is otherwise fully functional. The synthesis of alpha, beta, and delta peptide chains by reticulocytes from subjects with thalassemia or hemoglobin lepore. Thalassemias occur most often among people of italian, greek, middle eastern, southern asian, and african descent. The diagnosis of beta thalassaemia can be confirmed by the finding of a compensatory rise in the level of haemoglobin a2 to about 47%, which is the most useful screening test.
Get a printable copy pdf file of the complete article 1. In beta thalassemia, the gene for making beta globin chains doesnt work normally. They are forms of thalassemia to remove the excess iron. 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. 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.
While there are many different types of thalassemia, alpha thalassemia and beta thalassemia are the most important because of their potential adverse effects. When there is an issue in two chains major thalassemia. However, even in developed countries, most patients with. Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. 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. Started in 1995, this collection now contains 6769 interlinked topic pages divided into a tree of 31 specialty books and 732 chapters. No restriction needs to be placed on physical activities. Delivery would not be a major problem, and dose titrations may not be too challenging once the pharmacokinetics are determined. There are two different types of alpha thalassemia trait. 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. Beta thalassemia is caused by changes mutations in the hbb gene while alpha thalassemia is caused by mutations in the hba1 andor hba2 genes. Jul 29, 2015 alpha thalassemia is a blood disorder that reduces the bodys production of hemoglobin. Pallor, irritability, growth retardation, abdominal swelling, and jaundice appear during the sec.
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