Anemia types and characteristic finding classification of. Laboratory diagnosis of hemoglobinopathies and thalassemia. It is passed down from one or both parents through their genes. Symptoms appear in the first two years of life and include paleness of the skin, poor appetite, irritability, and failure to grow. Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed mutated. Diagnosis is typically by blood tests including a complete blood count, special hemoglobin tests, and genetic tests.
Thalassemia is an inherited blood disorder that can be categorized by abnormal formation of. The condition is caused by an abnormality in the production of the beta globin chain. Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins. Alpha thalassemia is a fairly common blood disorder worldwide. Alpha thalassemia major with hemoglobin barts usually results in fatal hydrops fetalis. There are three types of beta thalassemia that range from mild to severe according to their effect on the body cooleys anemia foundation, 2010. Laboratory diagnosis of thalassemia brancaleoni 2016. Thalassemia is seemingly the most common genetic abnormality in the world. If you have mild thalassemia, you might not need treatment. Beta thalassemia is a type of thalassemia that is inherited passed down through families.
Thalassemia types and their incidence in sardinia article pdf available in journal of medical genetics 156. Several forms of hemoglobin eb thalassemia, sb thalassemia. There are two main types, alpha thalassemia and beta thalassemia. Normal adult cells appear as ghost cells while cells with hb f stain varying shades of pink. 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. It effects as many as 1 in 30 pregnancies in china, india, and pakistan, 1 in 100 pregnancies in thailand, and 1 in pregnancies in northern europe and the united states. People with beta thalassemia are at an increased risk of developing abnormal blood clots.
Beta thalassemia trait is found in individuals where there is only one hbb gene mutation in each cell possess mild anaemia. Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin the protein in red blood cells that carries oxygen. If either the alpha or beta part is not made, there arent enough building blocks to make normal amounts of hemoglobin. In alpha thalassemia, the hemoglobin does not produce enough alpha protein. Individuals with alpha thalassemia do not produce enough alpha globin, and. Alpha thalassemia also occurs frequently in people from mediterranean countries, africa, the middle east, india, and central asia.
There are three main types of thalassemia and four subtypes. Silent carriers of alpha thalassemia and persons with alpha or beta thalassemia trait are asymp tomatic and require no treatment. Hemoglobin is made of two different kinds of protein chains, called alpha and. Alpha thalassemia is the result of reduction in the synthesis of the alpha globin chains and a form of thalassemia involving the gene hba 1 and hba 2 9,10. Alpha thalassemia each human diploid cell contains four copies of the alphaglobin gene, located on chromosome 8. Each type of thalassaemia alpha and beta is then classified into more types, according to how severe the condition is. The more severe the thalassemia, the less hemoglobin the body has, and the more severe the anemia may be. Hemoglobin is an ironrich protein in red blood cells. Types of thalassemia thalassemia can be categorized in two different ways.
But more severe forms might require regular blood transfusions. Thousands of infants with hb bart syndrome and hbh disease are born each year, particularly in southeast asia. The type of treatment a person receives depends on how severe the thalassemia is. Alpha thalassemia intermedia, or hemoglobin h disease, causes hemolytic anemia. The condition is called alpha thalassemia or beta thalassemia, depending on the specific genes that are missing or changed thalassemia can cause low. Hemoglobin enables red blood cells to carry oxygen. A free powerpoint ppt presentation displayed as a flash slide show on id.
It is commonly found in africa, the middle east, india, southeast asia, southern china, and occasionally the mediterranean region. Two main types of alpha thalassemia are described as alpha thalassemia. Thalassemia thaluhseemeuh is an inherited blood disorder that causes your body to have less hemoglobin than normal. Thalassemia major homozygous form of beta thalassemia thalassemia minor a carrier form. Clinical presentation ranges from benign to severe or incompatible with life, depending on the number of genes affected. When you have thalassemia, your body makes less hemoglobin than normal. Peripheral blood smear picture similar to thalassemia minor. It is a blood disorder that reduces the production of healthy red blood cells and normal hemoglobin.
One way to treat anemia is to provide the body with more red blood cells to carry oxygen. Cooleys anemia another name for thalassemia major types discussion. Pdf thalassemia types and their incidence in sardinia. This type of thalassemia also has two serious types. Thalassemia genetic and rare diseases information center. The thalassemias are a group of inherited hematologic disorders caused by defects in the synthesis of one or more of the hemoglobin chains. The peripheral blood smear shows hypochromic and microcytic anemia. Thalassemia intermedia is a less serious kind of beta thalassemia and do not require the patient to go through blood transfusions. Beta thalassemia is classified into two types depending on the severity of symptoms. Thalassemia consists of a group of disorders that may range from a barely detectable abnormality of blood, to. Thalassemia can cause anemia, leaving you fatigued. Alpha thalassemia is a deletion of one or more of the four genes that produce alpha globin chains. Alpha thalassemia disease and beta thalassemia disease. Hb electrophoresis confirms the diagnosis by the near absence of the decreased level of hb a.
In thalassemia major forms due to double heterozygosity of. Franklin bunn2 1section of hematology, department of medicine, yale school of medicine, new haven, connecticut 065208028 2hematology division, department of medicine, brigham and womens hospital, harvard medical school, boston, massachusetts 02115 correspondence. Symptoms depend on the type and severity of the disease. Beta thalassemia major also called cooleys anemia is a serious illness. There are two main types of thalassemia, alpha thalassemia and beta thalassemia. Thalassemia is an inherited disease of faulty synthesis of hemoglobin.
The two main types of thalassemia are alpha and beta. Thalassemia thaluhseemeuh is a problem with red blood cells that is passed down from parents to children genetic. One classification is based upon the part of the hemoglobin that is affected alpha or beta. They can also manifest from coinheritance of thalassemia trait and structural hemoglobin variants such as hemoglobin s, c, and e. When thalassemia is called alpha or beta, this refers to the part of hemoglobin that isnt being made. 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 hemoglobinopathies encompass all genetic diseases of hemoglobin. Four genes, 2 from each parent, are required to make alpha globin protein chains.
There are 2 major types of thalassemia alpha thalassemia and beta thalassemia named after defects that can occur in these protein chains. Alpha globin is made by four genes, two on each strand of chromosome 16. Laboratory diagnosis of hemoglobinopathies and thalassemia medical director, hematopathology and rbc laboratory arup laboratories assistant professor of pathology university of utah department of pathology archana m agarwal, md. When 1 or more genes are missing, it produces alpha thalassemia. In the classical form of thalassemia major homozygotes. There are two primary types of thalassemia disease. Beta thalassemia major usually results from the homozygous state for either. While there are many different types of thalassemia, alpha thalassemia and beta thalassemia are the most important because of their potential adverse effects.
This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. Beta thalassemia is an inherited disorder of the blood that affects the hemoglobin inside red blood cells. 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. The alpha and beta refer to which haemoglobin gene is affected, and which of the haemoglobin chains is faulty. The two main types of thalassemia are called alpha and beta thalassemia. Beta thalassemia results from mutations in beta genes pathogenesis a result of the free alpha subunits two classes. Normally, alpha globin chain is made by four genes two from each parent, two on each strand of chromosome 16. Individuals who have one or two abnormal alpha globin genes have alpha thalassemia trait. 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. The main types of thalassaemia are called alpha thalassaemia and beta thalassaemia. 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.
577 1149 281 299 418 911 516 9 305 1051 237 702 769 1072 439 1213 31 624 1175 187 1515 1310 1240 501 1134 1089 152 591 223 1085 949 140 485 668 1468 1071 1187 1330 999