Congenital sideroblastic anemia can be seen in a range of rare inherited disorders.
X-linked sideroblastic anemia:
(1) ALAS2 mutations
(2) ABCB7 mutations, with ataxia
Autosomal recessive:
(1) thiamine-responsive megaloblastic anemia with mutations in SLC19A2
(2) glutaredoxin 5 (GLRX5) mutations
(3) SLC25A38 mutations
Hereditary mitochondrial disorders:
(1) Pearson Marrow-Pancreas Syndrome
(2) myopathy, lactic acidosis and sideroblastic anemia (MLASA)
(3) Kearns Sayre syndrome
(4) NDUFB11 mutations
Other:
(1) without identified molecular defect
(2) sideroblastic anemia, B cell immunodeficiency, periodic fevers and developmental delay
