de Melo Campos Paula, Toreli Ana Carolina, de Albuquerque Dulcinéia Martins, Costa Fernando Ferreira
Hemocentro, Universidade Estadual de Campinas - Unicamp, Campinas, São Paulo, Brazil.
Hemocentro, Universidade Estadual de Campinas - Unicamp, Campinas, São Paulo, Brazil.
Hematol Transfus Cell Ther. 2025 Apr-Jun;47(2):103846. doi: 10.1016/j.htct.2025.103846. Epub 2025 May 15.
There is no physiological mechanism for the excretion of iron in humans, and excess iron may lead to severe tissue damage if not adequately treated. Iron overload can be caused by genetic factors (hemochromatosis) or acquired conditions (e.g., ineffective erythropoiesis, transfusions, iatrogenic iron treatment, viral hepatitis, alcohol intake, severe liver disease, metabolic dysfunction), and, in many cases, by a conjunction of these factors. Historically, guidelines for the genetic investigation of patients with iron overload have been based on data obtained from Caucasian individuals in Europe and North America. However, due to the genetic heterogeneity of iron overload gene mutations worldwide, these recommendations might not be applicable to other ethnic groups. This study analyzed previously published genetic data obtained from Brazilian patients with iron overload and found a relevant but small prevalence of HFE C282Y/C282Y patients when compared to European populations, while mutations of the TFR2, SCL40A1, HJV, HAMP, BMP6 and SLC11A1 genes seem to be important. This study proposes an adapted algorithm for the investigation and management of iron overload in Brazil.
人体不存在排泄铁的生理机制，如果得不到充分治疗，过量的铁可能会导致严重的组织损伤。铁过载可由遗传因素（血色素沉着症）或后天因素（如无效红细胞生成、输血、医源性铁治疗、病毒性肝炎、酒精摄入、严重肝病、代谢功能障碍）引起，在许多情况下，是由这些因素共同作用导致的。从历史上看，铁过载患者基因调查的指导方针是基于从欧洲和北美的白种人那里获得的数据。然而，由于全球铁过载基因突变的遗传异质性，这些建议可能不适用于其他种族群体。本研究分析了先前从巴西铁过载患者那里获得的基因数据，发现与欧洲人群相比，HFE C282Y/C282Y患者的患病率虽不高但较为显著，而TFR2、SCL40A1、HJV、HAMP、BMP6和SLC11A1基因的突变似乎很重要。本研究提出了一种适用于巴西铁过载调查和管理的算法。
