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Condition report · Hematological

Sideroblastic Anemia

Inherited conditions in which developing red blood cells cannot make haem properly, so iron collects in rings around their nucleus (ring sideroblasts). They cause anaemia and, over time, iron overload.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Inherited Sideroblastic Anaemia

A group of conditions caused by changes in genes such as ALAS2 and ABCB7 (X-linked), SLC25A38, GLRX5, PUS1, YARS2 and TRNT1 (recessive) and HSPA9 (dominant); some forms also affect the muscles, nervous system or immune system.

What a diagnosis changes

The X-linked ALAS2 form often responds to vitamin B6 (pyridoxine), and a diagnosis guides iron-overload monitoring and distinguishes these conditions from acquired myelodysplastic syndrome.

Genes analysed

Also known as

constitutional sideroblastic anaemia; constitutional sideroblastic anemia

Includes 13 related subtypes ↓
  • anemia, sideroblastic, 5
  • autosomal dominant sideroblastic anemia
  • autosomal recessive sideroblastic anemia
  • congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
  • myopathy, lactic acidosis, and sideroblastic anemia
  • myopathy, lactic acidosis, and sideroblastic anemia 1
  • myopathy, lactic acidosis, and sideroblastic anemia 2
  • myopathy, lactic acidosis, and sideroblastic anemia 3
  • severe congenital hypochromic anemia with ringed sideroblasts
  • sideroblastic anemia 2
  • sideroblastic anemia 3
  • X-linked sideroblastic anemia 1
  • X-linked sideroblastic anemia with ataxia
MONDO:0020099Orphanet 98362MedGen 65119

Limitations

  • Some ALAS2 changes lie in a non-coding regulatory region of the gene and may be missed, and women carrying ALAS2 changes can be affected to varying degrees. Pearson syndrome, caused by deletions of mitochondrial DNA, is not covered by this report.

Other hematological conditions

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