Results in microcytic, hypochromic anemias of varying severity. Beta thalassemia minor, in which there may be mild anemia but generally no need for treatment, is the heterozygous condition i. Two mutated genes, your signs and symptoms will be moderate to severe. Alpha thalassemia is caused by reduced or absent synthesis of alpha globin chains, and beta thalas semia is caused by reduced or absent synthesis of beta globin chains. Its caused by either a genetic mutation or a deletion of certain key gene fragments. The minor variant features only a low risk of hemolysis.
Although beta thalassemia minor does not cause any health problems, you and your babys doctor should know that it can cause a mild anemia low number of red. The nhs sickle cell and thalassaemia screening programme also has detailed leaflets about being a beta thalassaemia carrier pdf, 804kb or a delta beta thalassaemia carrier pdf, 779kb. Beta thalassemia is a hereditary disease allowing for a preventative treatment by carrier screening and prenatal diagnosis. 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, and the 5 and 3utr regions. This condition is called thalassemia major, or cooley anemia. Beta thalassemia intermedia clinically and genotypically heterogeneous disorders, ranging in severity from mild to the severe transfusiondependent state. Betathalassemia genetic and rare diseases information. Beta thalassemia is often classified into three types. Betathalassemia prevalence, pathophysiology and inheritance. People with this condition will need frequent blood transfusions.
When the words trait, minor, intermedia, or major are used, these words describe how severe the thalassemia is. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Laboratory diagnosis of hemoglobinopathies and thalassemia. If both genes are altereda person has beta thalassemia intermedia or beta thalassemia. Silent carrier state the mildest form of beta thalassemia. It can be prevented if one parent has normal genes, giving rise to screenings that.
The individual with thalassemia minor has only one copy of the beta thalassemia gene together with one perfectly normal betachain. Types of beta thalassemia major, intermediate and minor. This condition is called beta thalassemia trait also called beta thalassemia minor and can cause mild anemia. This results in a severe transfusiondependent anaemia. Beta thalassemia is a group of genetic blood disorders that share in common the defective. Pdf thalassemia is a globin gene disorder that results in a diminished rate of synthesis of one or more of the globin chains. Normally, beta thalassemia trait does not cause any health problems. Beta thalassemia minor trait clinically asymptomatic. Please use one of the following formats to cite this article in your essay, paper or report. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Beta thalassemia trait and beta thalassemia disease other forms of hemoglobin disease most of the time beta thalassemia disease happens when both parents have beta thalassemia trait. After controlling for possible confounders, such as iugr, oligohydramnios, and previous cesarean delivery, by using another multivariate analysis with cesarean delivery as the outcome variable.
Affected individuals also have a shortage of red blood cells anemia, which can. Thalassaemia in pregnancy, management of beta rcog. There are two main forms of thalassemia that are more serious. Regional consensus opinion for the management of beta thalassemia major in the arabian gulf area mohamad h qari, yasser wali, muneer h albagshi, mohammad alshahrani, azzah alzahrani, ibrahim a. They are thalassemia minor and thalassemia major which is also called cooleys anemia. Affected individuals also have a shortage of red blood cells anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Depending upon its degree of severity, thalassemia may be major, minor. Types thalassemia major cooleys anemia thalassemia minor severe form of beta thalassemia presence of one normal gene and one with a presence of two mutation abnormal genes that cause either a severe causes mild to decrease or complete moderate mild lack of beta. If you have mild anemia, folic acid supplements can help. You may have beta thalassemia trait and not know it. 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 regular blood transfusions. As with prevention of other endocrinopathies, it is important to ensure adequate chelation starting in early.
Two genes are involved in making the beta hemoglobin chain. Beta thalassemia minor beta thalassemia trait is the mildest form. One mutated gene, youll have mild signs and symptoms. Beta thalassemia occurs when one or both of the two genes that make beta globin dont work or only partly work. Thalassemia is a treatable disorder that can be wellmanaged with blood transfusions and chelation therapy. Thalassemia is the result of the deficient synthesis of one of the polypeptide chains of the hemoglobin molecule. Nontransfused thalassemia intermedia patients are encouraged to avoid highiron and ironsupplemented foods, and encouraged to drink tea with meals, which decreases iron absorption. As a result, the ability of red blood cells to transport oxygen in the body is reduced. Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Hb electrophoresis and hplc also detect other hemoglobinopathies s, c, e, o arab, lepore that may interact with beta. Find out more about the diagnosis of beta thalassemia. Beta thalassemia is a blood disorder that reduces the bodys production of hemoglobin. Iron can cause damage to the hypothalamicpituitary axis and possibly to the ovaries and testes. Imbalances of globin chains cause hemolysis and impair erythropoiesis.
Hba2 is variable in beta thalassemia homozygotes and it is enhanced in beta thalassemia minor. Thalassemia knowledge for medical students and physicians. Beta thalassemia major is the most serious type, and it can cause many complications, including slow growth in children, an enlarged spleen, heart and liver problems, and bone damage. 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. For example, a person with beta thalassaemia minor has one changed copy of the hbb gene, and one unchanged copy of the gene. It inhibits the production of hemoglobin and red blood cells. Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disease. Unlike thalassemia major, thalassemia minor has only one defective beta. This condition is called thalassemia minor or betathalassemia. In thalassemia minor, the hemoglobin genes are inherited during conception, one from the mother egg and one from the father sperm.
Beta thalassemia trait is inherited from ones parents, like hair or eye color. Guidelines for the clinical care of patients with thalassemia in canada. Beta thalassemia trait and beta thalassemia disease. The prevalence of betathassemia minor with high hemoglobin a2 and microcytic hypochromic anemia was 3. Beta thalassemia trait is also known as beta thalassemia minor. 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. Because they have one functioning copy of the gene, their health is not affected by beta. But sometimes one parent carries a different blood trait, such as hemoglobin e or hemoglobin s sickle cell. Physicians often mistake the small red blood cells of the person with beta thalassemia minor as a sign of irondeficiency. A person may have alpha or beta thalassemia, and symptoms depend on these types. Over the years, we have seen significant advances in medical technology, including assessment, monitoring and therapy for thalassemia. Thalassaemia minor can refer to people with either alpha or beta thalassaemia.
The individual with thalassemia minor has only one copy of the beta thalassemia gene together with one perfectly normal betachain gene. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Beta thalassemia can be further divided into a heterozygous minor and a homozygous major variant. Thalassemia minor is a less serious form of the disorder. Clinical sensitivity is up to 97% based on the ethnicity beta. An inherited blood disorder usually clinically asymptomatic resulting from the heterozygous inheritance of beta thalassemia mutation or deletion in the beta globin hbb gene on chromosome 11. Premarital screening of beta thalassemia minor in northeast of iran. People with thalassemia minor dont usually have any symptoms. People with beta thalassemia have anemia, which can cause paleness, weakness, fatigue, and more serious complications.