Keywords
ALAS2
microcytosis
How to Cite
Abstract
Sideroblastic anemias (SAs) are a heterogeneous group of rare pathologies in which heme biosynthesis and iron utilization during hemoglobin synthesis is affected. They are characterized by the presence in the bone marrow of erythroid precursors with pathological iron deposits in the mitochondria. They can be congenital or acquired. The most common hereditary form is X-linked (XLSA), caused by genetic variants in the ALAS2 gene, which encodes for the first enzyme in heme biosynthesis, the delta-aminolevulinic acid synthetase 2 (ALAS2). It predominantly affects hemizygous males, who present with microcytic hypochromic anemia. In some patients, treatment with pyridoxal phosphate is effective. We present three related cases of XLSA due to alteration in the ALAS2 gene.
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