Dna, along with genes and the information they contain, is passed down from parents. This condition, in which one of the four alpha globin genes is missing or. Jan 26, 2015 thalassaemia minor thalassaemia trait usually causes mild, asymptomatic microcytic anaemia, with no effect on mortality or significant morbidity. There is a 75% or 3 in 4 chance that the baby will not have this disease. This means that they have no fully functioning copies of the genes. Alpha thalassemia is a blood disorder that reduces the production of normal hemoglobin, the protein in red blood cells that carries oxygen to cells throughout the body. Hemoglobin is the part of the red blood cells that carries oxygen through the body. Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Thalassemias occur most often among people of italian, greek, middle eastern, southern asian, and african descent. If you have one damaged gene, you may have mild anemia and probably wont need treatment. Alpha thalassemia thal uh see mee uh trait is a condition that affects the. 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. For general information on sickle cell disease and other blood disorders. When there isnt enough hemoglobin, the bodys red blood cells dont function properly and they last shorter periods of time, so.
Alpha thalassemia can be treated with iron only if the person has low iron. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body. It is rare for africanamericans to have the cis form of alpha thalassemia, but it can happen. Affected individuals may have a mutation or combination of mutations in one gene, two genes, three genes, or all four copies of these genes. Alphathalassemia is one of the two forms of the life threatening blood disease known as thalassemia. Beta thalassemia is an inherited blood disorder in which the body doesnt make hemoglobin normally. Friedlander on alpha thalassemia trait patient information. Beta thalassemia occurs when similar gene defects affect production of the beta globin protein. Thalassaemia is an inherited condition affecting the blood. A person may have alpha or beta thalassemia, and symptoms depend on these types and how.
Apr 30, 2020 thalassemias are inherited blood disorders. An individual with one abnormal alpha globin gene is said to be a silent carrier of alpha thalassemia. Alpha thalassemia trait causes the size of the red blood cells to be smaller than usual. Alpha globin is made by four genes, two on each strand of chromosome 16. Alpha thalassemia is a blood disorder that reduces the production of normal hemoglobin, the protein in red blood cells that carries oxygen to cells throughout the body there are four types of alpha thalassemia, hemoglobin bart hydrops fetalis syndrome or hb bart syndrome the more severe form, hbh disease. It inhibits the production of hemoglobin and red blood cells. Hemoglobin consists of two main protein chains called alpha and beta. Thalassaemia is the most common inherited blood disorder blood disorders passed on from parents to their children.
Nov 22, 2019 thalassemia thaluhseemeuh is an inherited blood disorder that causes your body to have less hemoglobin than normal. Health care provider hemoglobinopathy fact sheet hemoglobin. Jude childrens research hospital, departments of hematology, patient education. Alphathalassemia genetic and rare diseases information. It is commonly mistaken for iron deficiency which also causes anemia. Alpha thalassemia trait a person with two working copies of the alpha globin gene has alpha thalassemia trait. Alpha thalassemia trait symptoms, diagnosis, treatments. Learn about our expanded patient care options for your health care needs.
When both parents have beta thalassemia trait, there is a 25% or 1 in 4 chance in each pregnancy for the baby to have beta thalassemia disease. The abnormal hemoglobin can lead to anemia not enough rbcs in the body and other medical problems. Thalassaemia thallaseemeeah is a group of blood disorders affecting the production of haemoglobin. Its presence indicates that one or more of the four genes that produce alpha globin chains are dysfunctional, causing alpha. This condition causes mild to severe anemia, based on the type of alpha thalassemia that is inherited. Affected individuals also have a shortage of red blood cells. A carrier of beta thalassaemia is a healthy person. Jan 10, 2018 thalassemia is an inherited blood disorder. More detailed information about the symptoms, causes, and treatments of alpha thalassemia trait is available below. However, it is however, it is methods for hemoglobin analysis and hemoglobinopathy testing view in chinese. Alpha thalassemia trait fact sheet what is alpha thalassemia.
People with hemoglobin h disease can have an enlarged spleen, low red blood. Hemoglobin is the protein in red blood cells that carries. Thalassemia can cause anemia, leaving you fatigued. Alpha thalassemia should not be treated with iron because it will not help. This is caused by four missing genes or gene changes. Patients with this condition have smaller red blood cells and a mild anemia, although they do not experience symptoms. Thalassaemia major can refer to people with either alpha or betathalassaemia. Read on to know all about its various types, symptoms and possible treatment options. Alpha thalassemia is caused by reduced or absent synthesis of alpha globin chains, and beta thalas. Ask questions, share experiences, find some guidance about bmt and cord blood transplants, cbt.
Beta thalassemia disease can only happen when both parents have beta thalassemia trait. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Thalassaemia major refers to when a person has changes in both copies of the affected gene or genes. Jan 22, 2018 thalassaemia is an inherited condition affecting the blood.
Beta thalassemia minor, or beta thalassemia trait, happens when one of the beta globin genes is mutated. Silent carrier, alpha thalassemia trait, hemoglobin h disease, hemoglobin hconstant spring, and alpha thalassemia major. Alpha thalassemia trait patient information answers on. Thalassemias national heart, lung, and blood institute nhlbi. The first type of alpha thalassemia trait has one alpha gene missing on each chromosome. This is called the trans form of alpha thalassemia trait. Hemoglobin is a protein that carries oxygen to the body. If you have mild thalassemia, you might not need treatment.
Concurrent alpha thalassemia might be a protective trait against significant hepatomegaly in sickle cell anaemia patients more than 60 months of age at mulago hospital. Alpha thalassemia is found most often in people of asian origin, but it also regularly appears in people of african ancestry. Alpha thalassemia among sickle cell anaemia patients in. Thalassemia thal uhseemeuh is an inherited blood disorder that causes your.
Hemoglobin barts is a tetramer of gamma fetal globin chains seen during the newborn period. Thalassemia is a treatable disorder that can be wellmanaged with blood transfusions and chelation therapy. It causes the body to make less hemoglobin than normal. Nontransfused thalassemia intermedia patients are encouraged to avoid highiron and ironsupplemented foods, and encouraged to drink tea with meals, which decreases iron absorption. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. Treatment of beta thalassemia may include medicines and regular blood transfusions. As it may be difficult to watch their diets closely, they should develop good habits early.
Alpha thalassemia is a blood disorder in which the body has a problem. Alpha thalassemia nord national organization for rare. Aug 28, 20 alphathalassemia is one of the two forms of the life threatening blood disease known as thalassemia. Alpha thalassemia happens when one or more of the genes that control the making of alpha globins is absent or defective. To help us provide the best possible service, answer the questions completely and send the paperwork with the specimen. Normal hemoglobin consists of two alpha chains and two beta chains. What if one parent has alpha thalassemia trait and the other parent is a silent carrier. Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. 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. Frequently, the diagnosis of alpha thalassemia trait in a parent is discovered after the birth of an affected child. It may affect the size of the rbcs and cause mild anemia. Thalassaemia is the name for a group of inherited conditions that affect a substance in the blood called haemoglobin. Pietro sodani and with the scientific advisor prof. In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the bodys tissues.
You need both alpha and betaglobin to make hemoglobin. Learn more about causes, risk factors, screening and prevention, signs and symptoms, complications, diagnoses, treatments, and how to participate in clinical trials. Like the silent carrier, alpha thalassemia trait is not a disease and does not affect your health. Our regular hemoglobin is composed of alpha and beta chains that come together to form working hemaglobin. Alpha thalassemia is caused by alterations mutations in two adjacent genes, the hba1 and the hba2 genes.
People with thalassaemia produce either no or too little haemoglobin, which is used by red blood cells to carry oxygen around the body. While the excess beta globin chains are capable of forming soluble homotetramers beta4, hbh, they are. It can lead to stillbirth or the death of a baby shortly after birth. Hemoglobin is the part of red blood cells rbcs that carries oxygen throughout the body. Alpha thalassemia trait also called alpha thalassemia minor. Different people will have different symptoms, based on which type of beta thalassemia is inherited. Aug 01, 2009 alpha thalassemia facts medical author. Two types of alpha thalassemia can cause health problems.
General information selfchecker donate and lend support. Thalassemia is a hereditary condition where your body produces fewer healthy red blood cells. When there isnt enough hemoglobin, the bodys red blood cells dont function properly and they last shorter periods of time, so there are fewer healthy red blood cells traveling. Alphathalassemia symptoms, diagnosis and treatment. Alpha thalassemia is a general term for a group of inherited blood disorders. T358 2018 mayo foundation for medical education and research mc123536rev1018 instructions. In alpha thalassemia, the severity of thalassemia you have depends on the. Alpha thalassemia trait involves defects in two of the four genes required to make each. People with alpha thalassemia trait can have small red blood cells and a low red blood cell count mild anemia. Carrying beta thalassaemia also known as having beta thalassaemia trait a blood test has shown that you carry beta thalassaemia. The team of cure thalassemia, led by the scientific coordinator dr. Alphathalassemia types, causes, diagnosis, treatment and. Also, people with the silent carrier form or alpha thalassemia trait can pass the genes to their children.
The alpha thalassemias can be generally categorized as. Alphathalassemia is a group of disorders of hemoglobin 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. People with either alpha or betathalassaemia major will have symptoms associated with the. The main symptom is mild anemia which may go unnoticed in many people. People who have this condition can pass the disease on to their children. For the more severe forms of thalassaemia, modern treatment gives a good outlook, but lifelong monitoring and treatment are needed. The second type of alpha thalassemia trait has two missing alpha genes on the same chromosome. Alpha thalassemia is a condition which affects the hemoglobin in the blood. Thalassemias are inherited blood disorders, causing the body to make fewer healthy red blood cells and less hemoglobin than normal. It is important for people with thalassemia to learn how to stay healthy. Alpha thalassemias occur most often in people from southeast asia, the middle east, china, and in those of african descent. Depending on the type of beta thalassemia, symptoms. Children who have thalassemia and are transfused are still relatively anemic, so their bodies might still crave iron. Doctor answers on symptoms, diagnosis, treatment, and more.
Individuals who have one or two abnormal alpha globin genes have alpha thalassemia trait. People who have this condition can pass the disease on. It is more likely to affect the rbcs and cause moderate to severe anemia. If one parent has the cis form of alpha thalassemia trait, and the other parent is a silent carrier. Alpha thalassemia trait fact sheet arkansas department of health. Thalassemia is a type of thalassemia that is caused by a deficiency of the alpha globin protein. Beta thalassemia trait and beta thalassemia disease. Alpha thalassemia trait and beta thalassemia trait are two forms of the condition. Beta thalassaemia is the most common form of thalassaemia, and it is divided into thalassaemia trait sometimes called thalassaemia minor and thalassaemia major. For the texas state newborn screening hemoglobinopathy consultants.
Alphathalassemia types, causes, diagnosis, treatment. Genetic counseling resources for hemoglobin disorders and. Thalassemias national heart, lung, and blood institute. Drink tea with meals to decrease iron absorption nontransfused thalassemia intermedia patients are encouraged to avoid highiron and ironsupplemented foods, and encouraged to drink tea with meals, which decreases iron absorption. Alpha thalassemia trait normally does not cause any health problems. There are different types, which vary from a mild condition with no symptoms, to a serious or lifethreatening condition. Every person has two copies of the hba1 gene one from each parent and two copies of the hba2 gene also one from each parent.
Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed mutated. In contrast, individuals with alpha or beta thalassemia minor also called thalassemia trait do not develop iron overload and do not require screening. Beta thalassemia occurs when one or both of the two genes that make betaglobin dont work or only partly work as they should. Alpha thalassemia trait symptoms, diagnosis, treatments and. Jul 29, 2015 alpha thalassemia is a blood disorder that reduces the bodys production of hemoglobin. Haemoglobin is the part of the blood which carries oxygen around the body. There are two different types of alpha thalassemia trait. Hemoglobin enables red blood cells to carry oxygen. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. A handout on thalassemia, written by the authors of this article, is.
Two types of alphathalassemia can cause health problems. This can make them very anaemic tired, short of breath and pale. For over 30 years bone marrow transplants have allowed thalassemia patients to be transfusionfree. But more severe forms might require regular blood transfusions. The information requested below is important for interpretation of test results. Alpha thalassemia major also called hydrops fetalis. The instructions for making globin chains are part of the genetic information you inherit from your. People with hemoglobin h disease can have an enlarged spleen, low red blood cell. 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.
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