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



(1) without identified molecular defect

(2) sideroblastic anemia, B cell immunodeficiency, periodic fevers and developmental delay

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