Disease or Syndrome
alpha-thalassemia
Subclass of:
Thalassemia
Definitions related to alpha-thalassemia:
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A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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(alpha thalassemia) A genetic hematologic disorder characterized by partial or complete absence of the alpha globin chains of the heme molecule.NCI ThesaurusU.S. National Cancer Institute, 2021
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Alpha-thalassemia (a-thalassemia) has two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome (caused by deletion/inactivation of all four a-globin genes; --/--), and hemoglobin H (HbH) disease (most frequently caused by deletion/inactivation of three a-globin genes; --/-a). Hb Bart syndrome, the more severe form, is characterized by prenatal onset of generalized edema and pleural and pericardial effusions as a result of congestive heart failure induced by severe anemia. Extramedullary erythropoiesis, marked hepatosplenomegaly, and a massive placenta are common. Death usually occurs in the neonatal period. HbH disease has a broad phenotypic spectrum: although clinical features usually develop in the first years of life, HbH disease may not present until adulthood or may be diagnosed only during routine hematologic analysis in an asymptomatic individual. The majority of individuals have enlargement of the spleen (and less commonly of the liver), mild jaundice, and sometimes thalassemia-like bone changes. Individuals with HbH disease may develop gallstones and experience acute episodes of hemolysis in response to infections or exposure to oxidant drugs.GeneReviewsUniversity of Washington, 2021
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The alpha thalassemia (?-thalassemia) syndromes are a group of hereditary anemias of varying clinical severity. They are characterized by reduced or absent production of 1 or more of the globin chains of which human hemoglobin is composed.WebMD, 2019
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Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form is called HbH...National Center for Advancing Translational Sciences
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Alpha-thalassemia is a group of disorders of hemoglobin synthesis, caused by mutations or deletions in at least 1 of the 4 alpha-globin genes, leading to variably impaired alpha-globin chain production, with accumulation of the now excess and unpaired beta-globin chains. These defects lead to the corresponding clinical manifestations of...Athenahealth, Inc., 2019
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