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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also known as mutations) in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component (subunit) of hemoglobin. Hemoglobin consists of four protein subunits, typically two subunits of beta-globin and two subunits of another protein called alpha-globin.</p><p>Some variants in the HBB gene prevent the production of any beta-globin. The absence of beta-globin is referred to as beta-zero (β0) thalassemia. Other HBB gene variants allow some beta-globin to be produced but in reduced amounts. A reduced amount of beta-globin is called beta-plus (β+) thalassemia. Having either β0 or β+ thalassemia does not necessarily predict disease severity, however; people with both types have been diagnosed with thalassemia major and thalassemia intermedia.</p><p>A shortage of beta-globin hinders the formation of functional hemoglobin. Without sufficient hemoglobin, red blood cells do not develop normally, causing a shortage of mature red blood cells. The low number of mature red blood cells leads to anemia and other associated health problems in people with beta thalassemia.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/beta-thalassemia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Beta thalassemia?"},{"bodyHtml":"<p>In people with beta thalassemia, low levels of hemoglobin reduce oxygen levels in the body. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. People with beta thalassemia are at an increased risk of developing abnormal blood clots.</p><p>Beta thalassemia is classified into two types depending on the severity of symptoms: thalassemia major (also known as transfusion-dependent thalassemia or Cooley&#x27;s anemia) and thalassemia intermedia (which is a non-transfusion-dependent thalassemia). Of the two types, thalassemia major is more severe.</p><p>The signs and symptoms of thalassemia major appear within the first 2 years of life. Children develop life-threatening anemia. They do not gain weight and grow at the expected rate (failure to thrive) and may develop yellowing of the skin and whites of the eyes (jaundice). Affected individuals may have an enlarged spleen, liver, and heart, and their bones may be misshapen. Puberty is delayed in some adolescents with thalassemia major.</p><p>Many people with thalassemia major have such severe symptoms that they need frequent blood transfusions to replenish their red blood cell supply. Over time, an influx of iron-containing hemoglobin from chronic blood transfusions can lead to a buildup of iron in the body, resulting in liver, heart, and hormone problems.</p><p>Thalassemia intermedia is milder than thalassemia major. The signs and symptoms of thalassemia intermedia appear in early childhood or later in life. Affected individuals have mild to moderate anemia and may also have slow growth, bone abnormalities, and an increased risk of developing abnormal blood clots.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/beta-thalassemia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"beta-thalassemia","sourceDocuments":[{"name":"Beta thalassemia","reviewed":"2022-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:50.492411+00:00","label":"Causes","pageSha256":"700d4e09831e0096df6df0428aba75a9600ce43d7fc4a4f938976e873d5116d4","sourceUrl":"https://medlineplus.gov/genetics/condition/beta-thalassemia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/beta-thalassemia"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Beta thalassemia"},"schemaVersion":1}