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CHAPTER 14 ■ Disorders of Iron Metabolism and Heme Synthesis 269
TABLE 14.7 Classi cation of Inherited and Acquired Sideroblastic Anemias
Laboratory and Clinical
Classi cation Condition Molecular Basis Characteristics
Nonsyndromic congenital sideroblastic anemias
X-linked sideroblastic anemia Germ-line mutation, ALAS2 Mild-moderate hypochromic
gene anemia, liver parenchymal iron
overload caused by ineffective
erythropoiesis and increased
iron absorption and release of
stored iron
Autosomal recessive Germ-line mutation, Defective heme synthesis,
sideroblastic anemia SLC25A38 gene severe microcytic anemia
Autosomal recessive (Rare) Germ-line mutation,
sideroblastic anemia GLRX5 gene
Inherited syndromic conditions
X-linked sideroblastic anemia Germ-line mutation, ABCB7 Moderate hypochromic
and spinocerebellar ataxia gene anemia
Myopathy, lactic acidosis, Germ-line mutation, PUS 1 Anemia, lactic acidosis
and sideroblastic anemia gene
(MLASA1)
Myopathy, lactic acidosis, Germ-line mutation YARS 2 Anemia
and sideroblastic anemia gene
(MLASA2)
Lactic acidosis
Thiamine-responsive Germ-line mutation SLC19A2 Thiamine-responsiveness
megaloblastic anemia gene macrocytic anemia
Pearson marrow-pancreas Mitochondrial DNA deletion Pancytopenia with sideroblastic
syndrome anemia
Sideroblastic anemia Germ-line mutation TRNT1 Sideroblastic anemia associated
associated with B-cell with B-cell de ciency
de ciency
Myeloid neoplasms with ring sideroblasts
RARS Somatic mutation SF3B1 gene Myelodysplastic syndrome with
Refractory anemia with ring isolated erythroid dysplasia,
sideroblasts ring sideroblasts
RCMD-RS Somatic mutation SF3B1 gene Myelodysplastic syndrome
Refractory cytopenia with with isolated multilineage
multilineage dysplasia and dysplasia, ring sideroblasts
ring sideroblasts
RARS-T refractory anemia Somatic mutation SF3B1 gene Myelodysplastic syndrome/
with ring sideroblasts with myeloproliferative syndrome
marked thrombocytosis with mild anemia, resembling
essential thrombocythemia
Miscellaneous acquired Ethanol-induced and drug-
sideroblastic anemias induced sideroblastic anemia
Modi ed from Cazzola M, Malcovati L. Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing. Hematology
Am Soc Hematol Educ Program, 2015:18, Table 1, 2015.
