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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the TMPRSS6 gene cause iron-refractory iron deficiency anemia. This gene provides instructions for making a protein called matriptase-2, which helps regulate iron levels in the body. TMPRSS6 gene mutations reduce or eliminate functional matriptase-2, which disrupts iron regulation and leads to a shortage of iron in the bloodstream. Iron is an essential component of hemoglobin, which is the molecule in red blood cells that carries oxygen. When not enough iron is available in the bloodstream, less hemoglobin is produced, causing red blood cells to be abnormally small and pale. The abnormal cells cannot carry oxygen effectively to the body&#x27;s cells and tissues, which leads to fatigue, weakness, and other symptoms of anemia.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/iron-refractory-iron-deficiency-anemia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Iron-refractory iron deficiency anemia?"},{"bodyHtml":"<p>Iron-refractory iron deficiency anemia results from an inadequate amount (deficiency) of iron in the bloodstream. It is described as &quot;iron-refractory&quot; because the condition is totally resistant (refractory) to treatment with iron given orally and partially resistant to iron given in other ways, such as intravenously (by IV). In people with this form of anemia, red blood cells are abnormally small (microcytic) and pale (hypochromic). The symptoms of iron-refractory iron deficiency anemia can include tiredness (fatigue), weakness, pale skin, and other complications. These symptoms are most pronounced during childhood, although they tend to be mild. Affected individuals usually have normal growth and development.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/iron-refractory-iron-deficiency-anemia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"iron-refractory-iron-deficiency-anemia","sourceDocuments":[{"name":"Iron-refractory iron deficiency anemia","reviewed":"2014-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:30.280263+00:00","label":"Causes","pageSha256":"562a389d7bf2767349c3007f152c2ddc53e029f4033bd64bb17da09b945bc517","sourceUrl":"https://medlineplus.gov/genetics/condition/iron-refractory-iron-deficiency-anemia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/iron-refractory-iron-deficiency-anemia"}],"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":"Iron-refractory iron deficiency anemia"},"schemaVersion":1}