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X-linked sideroblastic anemia with ataxia(ASAT)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Anemia sideroblastic and spinocerebellar ataxia; ASAT; Pagon Bird Detter syndrome; Sideroblastic anemia with spinocerebellar ataxia; X-Linked Sideroblastic Anemia and Ataxia
SNOMED CT: X-linked sideroblastic anemia with spinocerebellar ataxia (719816006)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
Concept ID:
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Gene (location): ABCB7 (Xq13.3)
Monarch Initiative: MONDO:0010524
OMIM®: 301310
Orphanet: ORPHA2802


X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males.

Sideroblastic anemia results 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 mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name. Unlike other forms of sideroblastic anemia, X-linked sideroblastic anemia and ataxia does not cause a potentially dangerous buildup of iron in the body. The anemia is typically mild and usually does not cause any symptoms.

X-linked sideroblastic anemia and ataxia causes problems with balance and coordination that appear early in life. The ataxia primarily affects the trunk, making it difficult to sit, stand, and walk unassisted. In addition to ataxia, people with this condition often have trouble coordinating movements that involve judging distance or scale (dysmetria) and find it difficult to make rapid, alternating movements (dysdiadochokinesis). Mild speech difficulties (dysarthria), tremor, and abnormal eye movements have also been reported in some affected individuals. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked sideroblastic anemia with ataxia
Follow this link to review classifications for X-linked sideroblastic anemia with ataxia in Orphanet.

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