SCIENTIFIC BACKGROUND

ALAS2

Category:

SCIENTIFIC BACKGROUND

X-linked sideroblastic anemia (XLSA) is a rare microcytic hypochromic anemia with iron overload and ring sideroblasts present in the bone marrow. The disease can occur at any age. It is caused by pathogenic variants in the ALAS2 gene (loss of function mutations), which lead to a deficiency of delta-aminolaevulinic acid synthase and thus to impaired heme synthesis. The age of manifestation and the expression of symptoms are highly variable. Due to the X-linked inheritance, males are predominantly affected. However, heterozygous female carriers may also show symptoms. Diagnosis is made by determining the blood count, reticulocyte count, ferritin level, detecting ring sideroblasts in the bone marrow, and genetic analysis of the ALAS2 gene. An early diagnosis is important due to the risk of iron overload. Treatment with pyridoxine and folic acid is possible, but does not work for all patients.

 

In addition to XLSA, several other congenital forms of sideroblastic anemia are known. Furthermore, sideroblastic anemias can also be acquired and triggered, for example, by drugs and alcohol.

 

References

Donker et al, Neth J Med. 2014 May;72(4):210-7 / Fleming MD, Semin Hematol. 2002 Oct;39(4):270-81 / May and Bishop, Haematologica. 1998 83(1):56-70

GENES

ALAS2

ASSOCIATED TESTS

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