Get a printable copy pdf file of the complete article. For the more severe forms of thalassaemia, modern treatment gives a good outlook, but lifelong monitoring and treatment are needed. People with thalassemia make less haemoglobin and fewer circulating red blood cells than normal,result in mild or severe anemia. The slides dont have any watermarks or names or them, so feel free to use them however you want. Ppt thalassemia powerpoint presentation free to download. They are characterized by reduced or absent production of 1 or more of the globin chains of which human hemoglobin is composed. Genetics, pathophysiology, and clinical management cambridge medicine pdf, epub, docx and torrent then this site is not for you. Normal adult cells appear as ghost cells while cells with hb f stain varying shades of pink. There is a 75% or 3 in 4 chance that the baby will not have this disease.
Pathophysiology, clinical manifestations, and carrier detectionin thalassemia. There are different types, which vary from a mild condition with no symptoms, to a serious or lifethreatening condition. When there isnt enough hemoglobin, the bodys red blood cells dont function. Thalassemia is a significant public health burden in affected regions, 1 and thus prenatal screening and genetic counseling are important in preventing the most severe forms of thalassemia. Feb 21, 2016 description of the pathophysiology of alpha thalassemia. Alpha and betathalassemias are both monogenic disorders, meaning that defects in one gene result in the disease. Thalassemia results when mutations affecting the genes involved in hb biosynthesis lead to decreased hb production. The betaglobin gene hbb gene is located on the short arm of chromosome 11. Describe the clinical and laboratory features of beta thalassemia minor trait and beta thalassemia major and the different types of alpha thalassemia. The clinical phenotype results from both the diminished amount of the particular globin chain as well as from the resultant chain imbalance that occurs because of normal production of the other globin chain. Thalassemia syndromes sideroblastic anemia transferrin deficiency 2. Megaloblastic anemias folic acid b 12 deficiencies liver disease reticulocytosis. How i treat thalassemia blood american society of hematology.
Almost all cells have some capacity to detoxify and remove damaging proteins via. Thalassemia is seemingly the most common genetic abnormality in the world. The thalassemias are extremely heterogeneous in terms of their clinical severity, and their underlying pathophysiology relates directly to the extent of accumulation of excess unmatched globin chains. The purpose of is to share medical documents powerpoints, pdfs, pictures, etc freely, so that premeds, residents, doctors and other medical professionals can benefit and share knowledge. Laboratory diagnosis of hemoglobinopathies and thalassemia. The pathophysiology of alpha thalassemia is different to that of beta thalassemia. 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.
Pdf thalassemias are genetic disorders inherited from a persons parents. The pathophysiology has been attributed to ironinduced oxidative damage. Thalassemia is a blood disorder that is caused by dna mutations in cells that are responsible for producing haemoglobin. The clinical manifestations include hemolytic anemia and impaired iron handling, the severity of which depends on the degree of impairment in beta globin production. Beta thalassemia major also called cooleys anemia is a serious illness. Aug 23, 2018 download pdf copy by yolanda smith, b. Pathophysiology, clinical manifestations, andcarrier detectioninthalassemia.
Alpha thalassemia disease and beta thalassemia disease. Thalassemia intermedia represents up to onefourth of. Symptoms appear in the first two years of life and include paleness of the skin, poor appetite, irritability, and failure to grow. Thalassemia intermedia is a heterogenous group with interplay of several genetic factors. It is caused by variant or missing genes that affect how the body make haemoglobin. Jan 01, 2015 thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin the protein in red blood cells that carries oxygen. This is simple html version for faster download on mobiles if viewed. Increased permeability of erythrocyte membrane in thalassemia. Phosphatidylserine in the outer leaflet of red blood cells from.
Beta thalassemia disease can only happen when both parents have beta thalassemia trait. Beta thalassemia is inherited as an autosomal recessive disease. It is essential to determine the reasons or genetic modifiers for the remarkable phenotypic heterogeneity and natural history of these disorders so that the most costeffective methods for their control and management can be established. Peripheral blood smear picture similar to thalassemia minor. Pdf abstract thalassemia s are genetic disorders inherited from a persons parents. A free powerpoint ppt presentation displayed as a flash slide show on id. Thalassemia pathophysiology of blood disorders, 2e. Thalassaemia thalassaemia is an inherited condition affecting the blood. Dec 20, 2017 read the original article in full on fresearch. Beta thalassemia is more common among people of mediterranean, middle eastern, southeast asian, or indian ancestry. Pdf pathophysiology, clinical manifestations, andcarrier.
Alpha thalassemia is particularly common among people of african, mediterranean, or southeast asian ancestry. Thalassemia genetic and rare diseases information center. Over 200 diseasecausing hbb gene mutations have been identified, most of which are point mutations. Beta thalassemia is an inherited hemoglobinopathy in which the production of one or both beta globin chains is impaired. Beta thalassemia trait and beta thalassemia disease. Inherited haemoglobin disorders, including thalassaemia and sicklecell disease, are the most common monogenic diseases worldwide. Hemoglobin h hbh disease is the most severe nonfatal form of.
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. Understand the pathophysiologic principles underlying treatment of beta thalassemia major. Thalassemias are a group of inherited microcytic, hemolytic anemias characterized by defective hemoglobin synthesis. Thalassemia is an inherited blood disorder that can be categorized by abnormal formation of. Description of the pathophysiology of alpha thalassemia. The pathophysiology of anemia in thalassemia resulted from reduced or absent synthesis of the alphaor betaglobin chains of hemoglobin molecule leading to abnormal hemoglobin production 1 23. Thalassemia is caused by deletion in approximately 95% of cases, with the remaining minority due to point mutations figure 1. However, the accumulation of each separate globin chain affects red cell membrane material properties and the state of red cell hydration very. Dec 12, 2011 pathophysiology therefore, alpha thalassemia occurs when there is a disturbance in production of. Emery and rimoins principles and practice of medical genetics, 4th ed. This discussion will focus on the mechanisms by which the excess unmatched beta globin chain synthesis in alpha thalassemia leads to increased red blood cell destruction hemolysis. Despite discoveries concerning the molecular abnormalities that led to the thalassemic syndromes, it still is not known how accumulation of excess unmatched alphaglobin in beta thalassemia and betaglobin in alpha thalassemia leads to red blood cell hemolysis in the peripheral blood, and in the beta thalassemias particularly, premature. Due to large deletions on chromosome 16 involving the aglobin genes due to mutations of the atrx transcription factor gene on chromosome x a thalassemia associated with myelodysplastic syndromes atmds.
Thalassemia medical powerpoint presentation download free. If youre looking for a free download links of disorders of hemoglobin. Brief explanation of the pathophysiology of beta thalassemia designed for medical students. American journal of clinical pathology, 102 1994, pp. When functional point mutations, frame shift mutations, nonsense mutations, and chain termination mutations occur within or around the coding sequences of the alphaglobin gene cluster. Megaloblastic anemias folic acid b 12 deficiencies liver disease reticulocytosis normal newborn bone marrow failure syndromes drugs azt, trimethoprin sulfate. Pathophysiology and treatment of patients with betathalassemia an update read the latest article version by eitan fibach, eliezer a.
The thalassemia syndrome is classified according to which of the globin chains. Full text full text is available as a scanned copy of the original print version. This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. Transfusion requirement in various thalassemia forms. Pdf this article provides an insight towards diagnosing and managing thalassemias. The pathophysiology of alpha and beta thalassemia involves abnormal production of globin chains. Improved survival due to advances in management means that patients are exposed to the harmful effects of ineffective erythropoiesis, anemia, and iron overload for a longer duration, and we started seeing new or more frequent complications in adult compared with younger patients. Betathalassemia prevalence, pathophysiology and inheritance. 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.
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