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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the ABCB7 gene cause X-linked sideroblastic anemia and ataxia. The ABCB7 gene provides instructions for making a protein that is critical for producing a component of hemoglobin called heme. Hemoglobin is vital for supplying oxygen to the entire body. The ABCB7 protein also plays a role in the formation of clusters of iron and sulfur atoms (Fe-S clusters). These clusters get incorporated into a variety of proteins that are necessary for many cell funcitons. The ABCB7 protein likely helps maintain an appropriate balance of iron (iron homeostasis) in erythroblasts.</p><p>ABCB7 gene variants lead to changes in the structure of the ABCB7 protein, disrupting its usual roles in heme production and iron homeostasis. Anemia occurs when heme cannot be produced normally and red blood cells cannot make enough hemoglobin. It is likely that a lack of heme and proteins that contain Fe-S clusters disrupts cell functions, particularly in nerve cells, resulting in ataxia and the other movement problems seen in people with X-linked sideroblastic anemia with ataxia.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia-and-ataxia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes X-linked sideroblastic anemia and ataxia?"},{"bodyHtml":"<p>Anemia is defined by a shortage of healthy red blood cells. Sideroblastic anemia occurs when developing red blood cells called erythroblasts do not make enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia and ataxia have red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. The anemia seen in people with this condition is typically mild.</p><p>X-linked sideroblastic anemia and ataxia leads to an abnormal accumulation of iron in red blood cells. The iron-loaded red blood cells, which are present in bone marrow, are called ring sideroblasts.</p><p>X-linked sideroblastic anemia and ataxia causes problems with balance and coordination that appear early in life. Ataxia can make it difficult to sit, stand, and walk unassisted. People with this condition may find it difficult to make rapid, alternating movements (dysdiadochokinesia), such as tapping their foot.</p><p>In addition to ataxia, people with this condition often have trouble coordinating movements that involve judging distance or scale (dysmetria), such as reaching out to grab an object. Affected individuals can also experience involuntary rhythmic shaking that worsens during movement (intention tremor). Mild speech difficulties (dysarthria) and abnormal eye movements have also been reported in some individuals with X-linked sideroblastic anemia and ataxia.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia-and-ataxia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"x-linked-sideroblastic-anemia-and-ataxia","sourceDocuments":[{"name":"X-linked sideroblastic anemia and ataxia","reviewed":"2025-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:26:00.606380+00:00","label":"Causes","pageSha256":"2ad936457c63b65acfd4e6e7bbbb769cd56160a405b0f32d1a1970e5f9dd3aaa","sourceUrl":"https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia-and-ataxia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia-and-ataxia"}],"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":"X-linked sideroblastic anemia and ataxia"},"schemaVersion":1}