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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 159 - 162 (4page)
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Dear Editor, Sideroblastic anemia is a heterogeneous disorder that is charac- terized by increased serum iron and ferritin levels, high number of hypochromic red blood cells (RBCs), and ineffective erythro- poiesis with ringed sideroblasts in the bone marrow (BM) [1].
There are two forms of sideroblastic anemia: inherited and ac- quired. Acquired sideroblastic anemia usually develops because of alcohol consumption, toxin exposure, substance abuse, and myelodysplastic syndrome-refractory anemia with ring sidero- blasts (MDS-RARS). Inherited sideroblastic anemia has a het- erogeneous inheritance pattern including X-linked, autosomal, and mitochondrial entities. X-linked sideroblastic anemia (XLSA) is the most common type, constituting about 40% of inherited sideroblastic anemia [2]. Most cases of XLSA result from defi- ciency of delta-aminolevulinate synthase 2 (ALAS2), an ery- throid-specific enzyme involved in the heme biosynthetic path- way. To date, more than 60 different mutations in the ALAS2 gene on the X chromosome of XLSA patients have been de- scribed [3]. Although several reports on inherited sideroblastic anemia in Korea have been published [4-6], the underlying ge- netic change, a well-known point mutation, was confirmed only in one case [4]. Since the morphologic findings of inherited sid- eroblastic anemia are usually similar to those of neoplastic MDS-RARS, genetic analyses are useful in identifying inherited sid- eroblastic anemia. Here, we report a novel missense mutation of the ALAS2 gene in a young male patient presenting with severe sideroblastic anemia.
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참고문헌 (14)
참고문헌 신청
Astner I / 2005 / Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans / EMBO J 24 : 3166 ~ 3177
Camaschella C / 2008 / Recent advances in the understanding of inherited sideroblastic anaemia / Br J Haematol 143 : 27 ~ 38
Cazzola M / 2000 / Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females / Blood 96 : 4363 ~ 436
Cotter PD / 1995 / Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive pat
Ducamp S / 2011 / Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations / Hum Mutat 32 : 590
Camaschella C / 2008 / Recent advances in the understanding of inherited sideroblastic anaemia / Br J Haematol 143 : 27 ~ 38
Cazzola M / 2000 / Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females / Blood 96 : 4363 ~ 436
Cotter PD / 1995 / Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive pat
Ducamp S / 2011 / Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations / Hum Mutat 32 : 590
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