The beta form of thalassemia is particularly prevalent among mediterranean peoples, and this geographical association is responsible for its original name. Scribd is the worlds largest social reading and publishing site. It is found predominantly in people of southeast asian and african descent. Thalassemia is due to a deficit or absent production of. Depending on the type of beta thalassemia, symptoms. For example, if one parent has beta thalassemia trait and the other parent has sickle cell trait another type of altered beta globin gene, there is a 25% chance of having a child with sickle beta thalassemia disease. Over 200 mutations in the beta globin gene and 70 mutations in the alphaglobin gene have been. A person may have alpha or beta thalassemia, and symptoms depend on these types and how. The abnormal hemoglobin can lead to anemia not enough rbcs in the body and other medical problems. Nov 22, 2019 in thalassemia, the production of either the alpha or beta chains are reduced, resulting in either alpha thalassemia or beta thalassemia. Each type of thalassaemia alpha and beta is then classified into more types, according to how severe the condition is. The type of thalassemia that a person has depends on how many and what type of traits for thalassemia a person has inherited, or received from their parents. Thalassemias involving delta, gamma, epsilon, and zeta chains are rare and usually not associated with significant disease outside of the neonatal period. Hemoglobin is a protein that carries oxygen to the body.
Jul 01, 2014 thalassemia instructional tutorial video. If mutations allows production of a small amount of functional. Thalassemia knowledge for medical students and physicians. The alpha and beta refer to which haemoglobin gene is affected, and which of the haemoglobin chains is faulty.
If only one of the four loci is affected then the person usually doesnt display any symptoms of the. Hemoglobin is the ironcontaining protein in red blood cells that carries oxygen to cells throughout the body. Beta thalassemia is a type of thalassemia that is inherited passed down through families. Two mutated genes, your signs and symptoms will be moderate to severe. It inhibits the production of hemoglobin and red blood cells. The symptoms of thalassemia major generally appear before a childs second birthday. A normal hemoglobin molecule is made up of two identical beta and two. Beta thalassemia is an inherited hemoglobinopathy in which the production of one or both beta globin chains is impaired. Alpha and beta thalassemia american family physician. Betathalassemia results from decreased production of betapolypeptide chains due to either mutations or deletions in the beta globin gene, leading to impaired production of hemoglobin hb a. Campbell, md louisiana state university health sciences center, new orleans, louisiana t he thalassemias named from the.
Beta thalassemia occurs most frequently in people from mediterranean countries, north africa, the middle east, india, central asia, and southeast asia. Thalassemia is an inherited disease of faulty synthesis of hemoglobin. Beta thalassemia free download as powerpoint presentation. Individuals who have one abnormal beta globin gene have beta thalassemia trait also known as. A red blood cell disorder characterized on the newborn screen by presence of fetal. Thalassemia is a globin gene disorder that results in a diminished rate of synthesis of one or more of the globin chains. Thousands of infants with beta thalassemia are born each year. The clinical manifestations include hemolytic anemia and impaired iron handling, the severity of which depends on the degree of impairment in beta globin production. Prime pubmed beta thalassemia journal articles from pubmed. Definition thalassemia is a group of inherited disorders of hemoglobin synthesis characterized by a reduced or absent one or more of the globin chains of adult hemoglobin.
The most commonly described nondeletional hemoglobin h disease forms are hemoglobin h constant spring and also in cluding hemoglobin h pakse, quong sze, and suan dok 20, 24, 5456. If one parent has beta thalassemia trait and the other parent has normal hemoglobin a, there is a 50 percent 1 in 2 chance with. Peripheral blood smear picture similar to thalassemia minor. Laboratory diagnosis of hemoglobinopathies and thalassemia. Pubmed journal articles for beta thalassemia were found in prime pubmed. Betathalassemia major and betathalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the hbb gene in each cell have mutations. This condition is called thalassemia minor or betathalassemia. Clinical presentation of thalassemia major usually occurs between 6 and 24 months of life, with severe microcyticnormocytic anemia, mild jaundice, and hepatosplenomegaly. Pdf betathalassemias are a group of hereditary blood disorders characterized by anomalies in the. Ppt thalassemia powerpoint presentation free to download. The child born with thalassemia major has two genes for beta thalassemia and no normal betachain gene.
Laboratory diagnosis of thalassemia brancaleoni 2016. Over 200 diseasecausing hbb gene mutations have been identified, most of which are point mutations. The condition is called alpha thalassemia or beta thalassemia, depending on the specific genes that are missing or changed. Thalassemia can cause low levels of red blood cells. Fetal blood transfusions are the only current treatment for supporting the fetus through pregnancy. The more mutated genes, the more severe your thalassemia. Beta thalassemia trait when you have one working copy of the beta globin gene and one nonworking copy you have beta thalassemia trait. Patients in this group manifest symptoms similar to thalassemia major and are treated as thalassemia major patients. Silent carriers of alpha thalassemia and persons with alpha or beta. Beta thalassemia is an inherited blood disorder in which the body doesnt make hemoglobin normally. Over 200 mutations in the betaglobin gene and 70 mutations in the alphaglobin gene have been. This student paper was written as an assignment in.
In this type, the lack of beta protein in the hemoglobin causes a moderate to severe anemia and significant health problems, including enlargement of the spleen and. Betathalassemia genetic and rare diseases information. Thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. Normal adult cells appear as ghost cells while cells with hb f stain varying shades of pink. Beta thalassemia major is a clinical diagnosis referring to a patient who has a severe form of the disease and requires chronic transfusions early in life. 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.
Beta thalassemia disease cooleys anemia information for physicians and other health care professionals 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. Two genes are involved in making the beta hemoglobin chain. A free powerpoint ppt presentation displayed as a flash slide show on id. It is a blood disorder that reduces the production of healthy red blood cells and normal hemoglobin. Treatment of beta thalassemia may include medicines and regular blood transfusions. For instance, if a person receives a beta thalassemia trait from his father and another from his mother, he will have beta thalassemia major. Patients with hbcbetathalassemia may live free of symptoms and be. Beta thalassemia major causes hemolytic anemia, poor growth, and skeletal. On the other hand, deletion of three genes results in significant production of hemoglobin h consisting of four beta chain. Betathalassemias are a group of hereditary blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. In a study of 31 people, the thalassemia free survival rate 70%, rejection 23%, and mortality 7%. Dec 10, 2019 thalassemias are inherited blood disorders.
Beta thalassemia is a rare, inherited blood disorder characterized by low levels of hemoglobin, which resides in red blood cells and carries oxygen throughout the body. Betathalassemia prevalence, pathophysiology and inheritance. Thalassemia is a treatable disorder that can be wellmanaged with blood transfusions and chelation therapy. Alpha thalassemia major atm is usually fatal in utero. Beta thalassemia minor or thalassemia minor, a rare genetic blood disorder, is a defect in the synthesis of beta chains of hemoglobin a protein that carries oxygen to the tissues. 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. The beta globin gene hbb gene is located on the short arm of chromosome 11.
Mcv and mch are low, but these patients are not transfusiondependent. Hemoglobin fe pattern on newborn screen is highly suggestive of homozygous hemoglobin e or hemoglobin ebeta zero. They characterised by varying degrees of ineffective hematopoiesis and increased hemolysis icd classification. The pathogenesis and treatment of alpha and beta thalassemia. The hematological diagnosis is based on reduced hemoglobin level free. Thalassemias occur most often among people of italian, greek, middle eastern, southern asian, and african descent. Beta thalassemia medical genetics genetic disorder. Thalassemia is a treatable disorder that can be wellmanaged with. It is passed down from one or both parents through their genes.
Hb e is one of the most common hemoglobin variants. In beta thalassemia, the gene for making beta globin chains doesnt work normally. Your body makes less of the beta chains, but is still able to make plenty of. Your body makes less of the beta chains, but is still able to make plenty of hemoglobin a. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. Pdf thalassemia is a globin gene disorder that results in a diminished rate of synthesis of one. Unlike thalassemia major, thalassemia minor has only one defective beta globin gene. Beta globin is made by two genes, one on each chromosome 11. Different people will have different symptoms, based on which type of beta thalassemia is inherited.
In the case of one gene defect, betathalassemia minor trait. This condition is called thalassemia major, or cooley anemia. Beta thalassemia trait is also known as beta thalassemia minor. Newborns need chronic transfusions to replace their red blood cells. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Patients with hbcbetathalassemia may live free of symptoms and be diagnosed during routine tests. Free publisher full textpmc free full textpmc free pdf. Betathalassemias are a group of hereditary blood disorders characterized by. Normally, beta thalassemia trait does not cause any health problems. These deletional and nondeletional hemoglobin h diseases.
If a person inherits one hb e gene and one beta thalassemia gene, the combination produces hb e beta thalassemia, which causes a moderately severe anemia similar to beta thalassemia intermedia. Jun 18, 2018 beta thalassemia major and beta thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the hbb gene in each cell have mutations. Jan 10, 2018 thalassemia is an inherited blood disorder. If a person inherits one hb e gene and one beta thalassemia gene, the combination produces hb ebeta thalassemia, which causes a moderately severe anemia similar to beta thalassemia intermedia. Beta thalassemia is a fairly common blood disorder worldwide. It is a condition intermediate between the major and minor forms. Beta thalassemia trait and beta thalassemia disease. Thalassemia thaluhseemeuh is a problem with red blood cells that is passed down from parents to children genetic. Hemoglobin is the part of red blood cells rbcs that carries oxygen throughout the body. One mutated gene, youll have mild signs and symptoms. Beta thalassemia intermedia is a clinical diagnosis of a patient characterized by a less severe chronic anemia and a more variable clinical phenotype. In alpha thalassemia, the severity of thalassemia you have depends on the number of gene mutations you inherit from your parents. More than 200 mutations are described in beta thalassemia. Beta thalassemia is inherited as an autosomal recessive disease.