Thalassemias


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Thalassemias

The name for a group of inherited disorders resulting from an imbalance in the production of one of the four chains of amino acids that make up hemoglobin. Thalassemias are categorized according to the amino acid chain affected. The two main types are alpha-thalassemia and betathalassemia. The disorders are further characterized by the presence of one defective gene (thalassemia minor) or two defective genes (thalassemia major). Symptoms vary, but include anemia, jaundice, skin ulcers, gallstones, and an enlarged spleen.
References in periodicals archive ?
He said that for the thalassemia patients the permanent treatment is bone marrow transplantation but unfortunately this surgery is so expansive and at least Rs 2 million is required for this operation.
The traits, such as sickle trait (AS), beta thalassemia trait, and alpha thalassemia trait, are particularly important in the prenatal patient, where it is vital to understand the likelihood of severe versus mild disease.
Frequency of Carriers for Beta Thalassemia and Sickle Cell Trait in Mersin.
Unlike types of thalassemia in which patients require regular blood transfusions, NTDT patients can live without frequent transfusions.
Canatan exchanged viewpoints on methods to fight against thalassemia in Mosul.
Although the types of mutations that cause hemoglobin-opathies and thalassemias are very different, the genes that bear the mutation are the same, namely the globin genes and the associated regulatory genes.
Patients with thalassemia do not produce enough hemoglobin (Hb) A ([[alpha].
HemaQuest President and CEO Ronald Berenson, MD, said, "These clinical studies provide early evidence of the safety and potential therapeutic activity of HQK-1001 in patients with sickle cell disease and beta thalassemia.
Diagnostic recommendations regarding the laboratory investigation of these conditions were first made in 1975 by the International Committee for Standardization in Hematology expert panel on abnormal Hbs and thalassemias.
Phenotype-genotype relationships in monogenic disease: lessons from the thalassemias.