Patients with non-transfusion dependent thalassemia (NTDT) develop variable degrees of iron overload. Possible genes which may be implicated in causing iron overload are hepcidin (HAMP) and hemojuvelin (HFE). There is variable data assessing the role of c.-582Y A > G HAMP gene and H63D hotspot in HFE-1 gene in causing iron overload, while role of HFE-2 gene is undetermined. Twenty-five patients with NTDT (≥ 10 years) were assessed for iron overload. Genetic analysis for β-globin, α-globin, HAMP, HFE-2 and C282Y and H63D hotspots in HFE-1 genes was performed. T2*MRI demonstrated elevated LIC in 48% patients. No mutations were detected in HAMP gene or HFE-1 hotspots. Four single nucleotide variations (SNV) were detected in HFE-2 gene in 4 (20%) patients, including a novel SNV, p.Gln315Arg in 2 patients in heterozygous state. This is a likely pathogenic mutation; however, in heterozygous state, it did not lead to iron overload. HAMP and HFE-2 gene variations were infrequently seen in this pilot study, with no significant impact on iron overload. Presence of SNV p.Gln315Argin HFE-2 gene needs to be evaluated in larger sample sizes in our population to determine the incidence in homozygous state and its association with iron overload.

非输血依赖性地中海贫血 (NTDT) 患者会出现不同程度的铁过载。可能与导致铁过载有关的可能基因是铁调素 ( HAMP ) 和血幼素 ( HFE )。有可变数据评估c.-582Y A  >  G HAMP基因和HFE-1基因中的H63D热点在导致铁过载中的作用，而HFE-2基因的作用尚未确定。对 25 名 NTDT 患者（≥ 10 岁）进行了铁过载评估。β-珠蛋白、α-珠蛋白、HAMP、HFE-2和HFE-1中的C282Y和H63D热点的遗传分析基因进行了。T2*MRI 显示 48% 的患者 LIC 升高。在HAMP基因或HFE-1热点中未检测到突变。在 4 名 (20%) 患者的HFE-2基因中检测到四种单核苷酸变异 (SNV) ，包括2 名处于杂合状态的患者的新 SNV p.Gln315Arg 。这可能是致病突变；然而，在杂合状态下，它不会导致铁过载。HAMP和HFE-2基因变异在这项初步研究中很少见，对铁过载没有显着影响。HFE-2中存在 SNV p.Gln315Arg基因需要在我们人群中以更大的样本量进行评估，以确定纯合状态的发生率及其与铁过载的关系。