A mutation in the gene ABCB7 can result in an X-linked sideroblastic anemia.

Chromosome: Xq13.3

Gene: ABCB7 (ATP binding cassette subfamily B member 7, previously ABC7)

Function: transport of iron


Mutations result in accumulation of iron within mitochrondria, corresponding to the sideroblastic change.


Inheritance: X-linked


Clinical features:

(1) sideroblastic anemia with onset during infancy or early childhood

(2) cerebellar ataxia


Red blood cells are hypochromic and microcytic. Carriers may show basophilic stippling.

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