High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome:: The Budapest study on 50 patients
High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome:: The Budapest study on 50 patients
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DOI：
10.1159/000068487
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发表时间：
2003-01-01
影响因子：
2.4
通讯作者：
Tordai, A
中科院分区：
文献类型：
--
作者：
Várkonyi, J;Tarkovács, G;Tordai, A
对非选择性骨髓增生异常综合征（MDS）患者进行遗传性血色素沉着症HFE基因C282 Y和H63 D突变的基因型检测，结果显示，与反映平均人群的健康献血者相比，这些突变的频率显著增加。在50例患者中[26例难治性贫血（RA），9例难治性贫血伴环形铁粒幼细胞（RARS），2例难治性贫血伴原始细胞增多（RAEB），13例难治性贫血伴转化中原始细胞增多（RAEB-t）]，24例杂合子（20例H63 D，4例C282 Y），1例H63 D纯合子和1例复合杂合子。HFE阳性和HFE阴性MDS患者之间的初始血清铁和转铁蛋白饱和度的差异无显著性。由于疾病的内在特征以及在疾病过程中对输血治疗的需求不断增加，铁过载综合征最终不可避免地在IVIDS患者中发展。MDS患者中HFE基因突变的高发生率也可能导致这种恶性循环。
Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations when compared to healthy blood donors reflecting the average population. Among the 50 patients examined [26 refractory anemia (RA), 9 refractory anemia with ring sideroblasts (RARS), 2 refractory anemia with excess of blasts (RAEB) and 13 refractory anemia with excess of blasts in transformation (RAEB-t)] there were 24 heterozygotes (20 for H63D and 4 for C282Y), 1 homozygote for H63D and 1 compound heterozygote. The difference between the HFE-positive and HFE-negative MDS patients as regards initial serum iron and transferrin saturation was not significant. Inevitably the iron overload syndrome eventually develops in IVIDS patients due to intrinsic characteristics of the disease as well as an escalating need for blood transfusion therapy in the course of the disease. The high incidence rate of HFE gene mutations among MDS patients may also contribute to this vicious circle.