Thalassemia definition is any of a group of inherited disorders of hemoglobin synthesis such as cooleys anemia that are marked by mild to severe hypochromic and microcytic anemia, result from the partial or complete failure in production of one or more globin chains, and tend to occur especially in individuals of mediterranean, african, or southeastern asian ancestry. It is caused by variant or missing genes that affect how the body make haemoglobin. The most accurate indicator of iron deposi tion is tissue iron level. Thalassaemia simple english wikipedia, the free encyclopedia. Links with this icon indicate that you are leaving the cdc website the centers for disease control and prevention cdc cannot attest to the accuracy of a nonfederal website. Every year on the fourteenth of february the world celebrates the idea of love. Campbell, md louisiana state university health sciences center, new orleans, louisiana t he thalassemias named from the. Linking to a nonfederal website does not constitute an endorsement by cdc or any of its employees of the sponsors or the information and products presented on the website. Proper usage and audio pronunciation of the word thalassemia. All structured data from the file and property namespaces is available under the creative commons cc0 license. There are 2 major types of thalassemia alpha thalassemia and beta thalassemia named after defects that can occur in these protein chains.
Over the years, we have seen significant advances in medical technology, including assessment, monitoring and therapy for thalassemia. Customer rights accessibility nondiscrimination notice pdf report fraud sitemap. In our study, the most common complications were endocrine complications 38. Powerpoint templates page 3 thalassemia incidence thalassemia affects approximately 4. 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.
An inherited form of anemia occurring chiefly among people of mediterranean descent, caused by faulty synthesis of part of the hemoglobin molecule. Thalassemia is a blood disorder in which the body makes an abnormal form of hemoglobin. Thalassemia definition thalassemia describes a group of inherited disorders characterized by reduced or absent amounts of hemoglobin, the oxygencarrying protein inside the red blood cells. Guidelines for the clinical care of patients with thalassemia in canada. Carrier frequencies of betathalassemia vary from 1% to 5% while prevalence data for alphathalassemia are scant. At birth red cells contain mainly foetal haemoglobin hb f. A good correlation between the severity of anemia and markers of tubular abnormalities are reported in patients with. Proper usage and audio pronunciation of the word thalassemia major.
Beta thalassemia minor, which is a mild, nontransfusion dependent anemia is caused by a defect in one copy of the beta gene. Thalassemia definition of thalassemia by merriamwebster. Four genes, 2 from each parent, are required to make alpha globin protein chains. When 1 or more genes are missing, it produces alpha thalassemia. Most children with thalassemia major appear healthy at birth but, during the first year or two of life, they become. There are two basic groups of thalassemia disorders. Learn more about its symptoms and how its diagnosed. However detection of tissue iron is an invasive procedure and could not be app lied to our patients. Normal hemoglobin consists of two alpha chains and two beta chains. This is the most severe form of beta thalassemia in which there is complete lack of beta protein in the hemoglobin, which causes a lifethreatening anemia that requires regular blood. Thalassemia major is an inherited form of hemolytic anemia, characterized by red blood cell hemoglobin production abnormalities. Thalassemia subject collection hemoglobin and its diseases therapies new disease models leading the way to targeted cellfree hemoglobin and its scavenger proteins. Thalassemia definition of thalassemia by medical dictionary. These carriers may be still easily identified because they have the typical increase of.
The thalassemias are a group of inherited hematologic disorders caused by defects in the synthesis of one or more of the hemoglobin chains. The rate of decline of hb f production during this period is retarded in infants heterozygous for beta thalassaemia as compared with normal infants6. 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. Adams rj, mckie vc, hsu l, files b, vichins ki e, pegelow c. Haemoglobin is the protein in red blood cells which carries oxygen. Algunas personas no tienen sintomas o presentan anemia leve. Thalassemia womens and infants health at mount sinai. Renal complications of betathalassemia major in children 2 am j blood res 2014. Fiftysix patients were followed up with diagnosis of thalassemia major and 11 with thalassemia intermedia. If you look up love in collins english dictionary, you will find the word defined as an intense emotion of affection, warmth, fondness, and regard towards a person or thing. Review article renal complications of betathalassemia. Patients display diminished production of alpha globin, but possess at least one functional alpha gene.
A designated area with the relevant documents and necessary items shall be. Files are available under licenses specified on their description page. Thalassemia is an inherited autosomal recessive blood disorder. Thalassemia definition, a hereditary form of anemia, occurring chiefly in people of mediterranean origin, marked by the abnormal synthesis of hemoglobin and a consequent shortened life span of red blood cells. Osteoporosis is a common problem among thalassemia patients. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. Information about thalassemia major in the dictionary, synonyms and antonyms. Thalassemia definition of thalassemia by the free dictionary. The thalassemias are hereditary disorders characterized by a decrease in the synthesis of globin chains alpha or beta. Thalassemia major definition of thalassemia major at. Other words that entered english at around the same time include. Depending on the severity of disease, thalassemias can also be classified into thalassemia minor, thalassemia intermedia and thalassemia major. Thalassemia in arab populations alpha and betathalassemia are endemic in almost all arab countries probably due to the historical presence of malaria in the region and the high level of consanguinity.
The underlying cause of this group of diseases is deficient synthesis of globin chains in red blood cells. Information and translations of thalassemia in the most comprehensive dictionary definitions resource on the web. Information about thalassemia in the dictionary, synonyms and antonyms. Thalassemia major definition at, a free online dictionary with pronunciation, synonyms and translation. At that age, 50% of the patients from an italian longterm study were still alive. This is caused by mutant genes which affect how the body makes haemoglobin. Slide hemoglobin h disease y second most severe form alpha thalassemia.
442 1018 336 1038 1509 1601 1566 1499 1338 542 944 748 984 304 545 498 615 989 536 1565 962 487 1500 364 1199 812 1114 1342 895 424 1044 712 145 243 151 1258 105 1450 1421 401 333