Moreno-Risco María-Belén, Méndez Manuel, Moreno-Carralero María-Isabel, López-Moreno Ana-María, Vagace-Valero José-Manuel, Morán-Jiménez María-José
Servicio de Hematología y Hemoterapia, Hospital Materno Infantil de Badajoz, Badajoz, Spain.
Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain.
Case Rep Pediatr. 2022 Apr 11;2022:7743748. doi: 10.1155/2022/7743748. eCollection 2022.
Hemochromatosis type 2 or juvenile hemochromatosis has an early onset of severe iron overload resulting in organ manifestation such as liver fibrosis, cirrhosis, cardiomyopathy, arthropathy, hypogonadism, diabetes, osteopathic medicine, and thyroid abnormality, before age of 30. Juvenile hemochromatosis type 2a and 2b is an autosomal recessive disease caused by pathogenic variants in and genes, respectively. We report a child with hepatic iron overload and family history of hemochromatosis. We aim to raise awareness of juvenile hemochromatosis, especially in families with a positive family history, as early diagnosis and treatment may prevent organ involvement and end-stage disease. The purpose of this study was to identify the gene variant that causes the disease. The genetic study was performed with a targeted gene panel: , , , , , , and . We identified the variant c.309C > G (p.Phe103Leu) in the gene in the homozygous state in the patient.
2型血色素沉着症或青少年血色素沉着症发病早，会导致严重的铁过载，在30岁之前就会出现肝脏纤维化、肝硬化、心肌病、关节病、性腺功能减退、糖尿病、骨病和甲状腺异常等器官表现。2a型和2b型青少年血色素沉着症是分别由 和 基因的致病变异引起的常染色体隐性疾病。我们报告了一名患有肝铁过载且有血色素沉着症家族史的儿童。我们旨在提高对青少年血色素沉着症的认识，尤其是在有家族病史的家庭中，因为早期诊断和治疗可能预防器官受累和终末期疾病。本研究的目的是鉴定导致该疾病的基因变异。使用靶向基因panel（ 、 、 、 、 、 、 ）进行了基因研究。我们在患者中鉴定出 基因的纯合状态下的变异c.309C > G（p.Phe103Leu）。
