铁蛋白
医学
突变
点突变
白内障
贫血
转铁蛋白饱和度
基因突变
小细胞性贫血
复合杂合度
遗传学
缺铁
内科学
基因
生物
眼科
作者
Axel Rüfer,Jeremy P Howell,Alex P. Lange,Holger Jahn,Julia Heuscher,Michael Gregor,Walter A. Wuillemin
标识
DOI:10.1111/j.1600-0609.2011.01607.x
摘要
Hereditary hyperferritinemia-cataract syndrome (HHCS) is one of the differential diagnoses of hyperferritinemia (HF) with low or normal transferrin saturation but is usually not associated with anemia. Here, we report a case of a microcytic, hypochromic anemia with hyperferritinemia as the initial presentation of a combination of iron deficiency anemia and HHCS. The latter is an autosomal dominant disorder characterized by distinctive cataracts and HF in the absence of iron overload. Sequencing studies were carried out to look for mutations in the iron responsive element (IRE) of the L ferritin gene. A heterozygous single point mutation for a +24T to C substitution in the IRE of the L ferritin gene (=HGVS c.-176T>C) was detected which has not been described before. To evaluate the pathogenetic relevance of this new mutation, we performed family studies of parents and siblings. We could identify the father and one brother with HF, cataract, and the heterozygous +24T>C mutation. Neither the mother nor the five other siblings had HF, cataract or that mutation. We therefore conclude that this newly described heterozygous +24T>C mutation in the IRE of the L ferritin gene causes HHCS.
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