Hereditary Sideroblastic Anemias: Pathophysiology, Diagnosis, and Treatment

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Abstract

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

Original languageEnglish
Pages (from-to)371-377
Number of pages7
JournalSeminars in Hematology
Volume46
Issue number4
DOIs
Publication statusPublished - Oct 2009

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Iron
Sideroblastic Anemia
Heme
Iron-Regulatory Proteins
Glutaredoxins
Aminolevulinic Acid
Erythroid Cells
Sulfur
Genes
X-linked sideroblastic anemia
Anemia
Adenosine Triphosphate
Bone Marrow
Mutation
Enzymes

ASJC Scopus subject areas

  • Hematology

Cite this

Hereditary Sideroblastic Anemias : Pathophysiology, Diagnosis, and Treatment. / Camaschella, Clara.

In: Seminars in Hematology, Vol. 46, No. 4, 10.2009, p. 371-377.

Research output: Contribution to journalArticle

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