Hereditary Sideroblastic Anemias: Pathophysiology, Diagnosis, and Treatment
作者： Clara Camaschella
DOI: 10.1053/J.SEMINHEMATOL.2009.07.001
关键词:
摘要: Inherited sideroblastic anemia comprises several rare anemias due to heterogeneous genetic lesions, all characterized by the presence of ringed sideroblasts in bone marrow. This morphological aspect reflects abnormal mitochondrial iron utilization erythroid precursors. The most common X-linked (XLSA), mutations first enzyme heme synthetic pathway, delta-aminolevulinic acid synthase 2 (ALAS2), has linked deficiency accumulation. identification other genes, such as adenosine triphosphate (ATP) binding cassette B7 (ABCB7) and glutaredoxin 5 (GLRX5), strengthened role sulfur cluster biogenesis sideroblast formation revealed a complex interplay between pathways cytosolic sensing iron-regulatory proteins (IRPs). As recently occurred with discovery SLC25A38-related anemia, genes responsible for yet uncharacterized forms will provide further insights into metabolism cells pathophysiology anemia.
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