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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Specialty: Hematology Oncology
