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- FUJIWARA Tohru
- Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine
Bibliographic Information
- Other Title
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- 鉄芽球性貧血の分子病態
- テツ ガキュウセイ ヒンケツ ノ ブンシ ビョウタイ
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Abstract
<p>Sideroblastic anemias (SAs) are heterogeneous congenital and acquired disorders characterized by anemia and the presence of ring sideroblasts in bone marrow. Congenital sideroblastic anemia (CSA) is a rare disease caused by mutations in genes that are involved in heme biosynthesis, iron-sulfur [Fe-S] cluster biosynthesis, and mitochondrial protein synthesis. The most common form of CSA is X-linked sideroblastic anemia; it occurs because of mutations in the erythroid-specific δ-aminolevulinate synthase gene (ALAS2), which is the first enzyme of the heme biosynthesis pathway in erythroid cells. Additionally, SAs can occur after exposure to certain drugs or alcohol and with copper deficiency (secondary SA) ; they are also detected in association with myelodysplastic syndrome (idiopathic SA). Among all types of SAs, idiopathic SA is the most common form. This review encompasses the current understanding of the molecular pathophysiology of SA.</p>
Journal
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- Rinsho Ketsueki
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Rinsho Ketsueki 59 (10), 1979-1987, 2018
The Japanese Society of Hematology
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Details 詳細情報について
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- CRID
- 1390564238035342464
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- NII Article ID
- 130007496828
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- NII Book ID
- AN00252940
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- ISSN
- 18820824
- 04851439
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- NDL BIB ID
- 029280313
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- PubMed
- 30305500
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- Text Lang
- ja
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- Data Source
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- JaLC
- NDL
- PubMed
- CiNii Articles
- KAKEN
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- Abstract License Flag
- Disallowed