Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, 980-8574, Japan.
Ann Hematol. 2013 Jan;92(1):1-9. doi: 10.1007/s00277-012-1564-5. Epub 2012 Sep 16.
Sideroblastic anemia is characterized by anemia with the emergence of ring sideroblasts in the bone marrow. There are two forms of sideroblastic anemia, i.e., congenital sideroblastic anemia (CSA) and acquired sideroblastic anemia. In order to clarify the pathophysiology of sideroblastic anemia, a nationwide survey consisting of clinical and molecular genetic analysis was performed in Japan. As of January 31, 2012, data of 137 cases of sideroblastic anemia, including 72 cases of myelodysplastic syndrome (MDS)-refractory cytopenia with multilineage dysplasia (RCMD), 47 cases of MDS-refractory anemia with ring sideroblasts (RARS), and 18 cases of CSA, have been collected. Hemoglobin and MCV level in CSA are significantly lower than those of MDS, whereas serum iron level in CSA is significantly higher than those of MDS. Of 14 CSA for which DNA was available for genetic analysis, 10 cases were diagnosed as X-linked sideroblastic anemia due to ALAS2 gene mutation. The mutation of SF3B1 gene, which was frequently mutated in MDS-RS, was not detected in CSA patients. Together with the difference of clinical data, it is suggested that genetic background, which is responsible for the development of CSA, is different from that of MDS-RS.
铁幼粒细胞性贫血的特征为贫血，骨髓中出现环状铁幼粒细胞。铁幼粒细胞性贫血有两种形式，即先天性铁幼粒细胞性贫血（CSA）和获得性铁幼粒细胞性贫血。为了阐明铁幼粒细胞性贫血的病理生理学，日本开展了一项包含临床和分子遗传学分析的全国性调查。截至 2012 年 1 月 31 日，已收集到包括 72 例骨髓增生异常综合征（MDS）难治性血细胞减少伴多系发育异常（RCMD）、47 例 MDS 难治性环形铁幼粒细胞性贫血（RARS）和 18 例 CSA 在内的 137 例铁幼粒细胞性贫血病例的数据。CSA 的血红蛋白和 MCV 水平明显低于 MDS，而 CSA 的血清铁水平明显高于 MDS。在可进行基因分析的 14 例 CSA 中，由于 ALAS2 基因突变，10 例被诊断为 X 连锁铁幼粒细胞性贫血。在 CSA 患者中未检测到 MDS-RS 中经常发生突变的 SF3B1 基因突变。与临床数据的差异一起表明，导致 CSA 发展的遗传背景与 MDS-RS 不同。
