Single-center experience of four cases with iron-refractory iron deficiency anemia (IRIDA).

Gülin Parlak, Muhammed Doğukan Aksu, Fatma Gümrük, Şule Ünal
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Abstract

Background: Iron refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive type of anemia characterized by unresponsiveness to oral iron therapy and partial response to parenteral iron therapy. In this article, we report the clinical presentation of four patients with IRIDA admitted to our clinic, including their laboratory values at admission and after oral and parenteral iron treatment, and the analysis of their mutation(s) in TMPRSS6 gene.

Case: Four patients from different families, aged between 3 and 14 years, two girls and two boys, two of whom were from consanguineous marriages, who were diagnosed with iron deficiency anemia in primary health care institutions and referred to our clinic because of inadequate response to oral iron treatment were included. Patients were evaluated for the differential diagnosis of microcytic, hypochromic anemia and investigated for the etiology of IDA. Homozygous or compound heterozygous mutations causing defective matriptase-2 protein expression were detected in the TMPRSS6 gene; these mutations included four frameshift mutations-two of which were the same in two cases and causing premature terminal stop codons-and a nonsense mutation, all of which were previously demonstrated in the literature. The response to parental iron therapy ranged from complete non-response to mild to good response in hemoglobin levels, but none of the patients showed improvement in iron parameters.

Conclusions: Increased awareness of IRIDA and keeping it in mind in the differential diagnosis in the presence of hypochromic microcytic anemia that does not respond to iron treatment will be crucial in improving the diagnosis and treatment of the disease and ultimately enhancing the quality of care for affected individuals.

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四例难治性缺铁性贫血(IRIDA)患者的单中心经验。
背景:难治性缺铁性贫血(IRIDA)是一种罕见的常染色体隐性遗传型贫血,其特点是对口服铁剂治疗无反应,而对肠外铁剂治疗有部分反应。本文报告了本诊所收治的四例 IRIDA 患者的临床表现,包括他们入院时、口服和肠外铁剂治疗后的实验室值,以及他们的 TMPRSS6 基因突变分析:四名患者来自不同家庭,年龄在 3 岁至 14 岁之间,两女两男,其中两人为近亲结婚,在基层医疗机构被诊断为缺铁性贫血,因口服铁剂治疗效果不佳而转诊至本诊所。对患者进行了小红细胞、低色素性贫血的鉴别诊断评估,并对 IDA 的病因进行了调查。在TMPRSS6基因中发现了导致matriptase-2蛋白表达缺陷的同卵或复合杂合突变;这些突变包括四个移帧突变--其中两个在两个病例中相同,导致过早末端终止密码子--以及一个无义突变,所有这些突变以前都在文献中证实过。患者对父母铁剂治疗的反应从完全无反应到轻度反应再到血红蛋白水平良好反应不等,但没有一名患者的铁剂指标有所改善:提高对 IRIDA 的认识,并在对铁剂治疗无反应的低色素性小细胞性贫血的鉴别诊断中牢记这一点,对于改善该病的诊断和治疗以及最终提高患者的护理质量至关重要。
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