A mutation in the gene ABCB7 can result in an X-linked sideroblastic anemia.
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.
(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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Specialty: Hematology Oncology