29.06.2023 | Case Report
Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosis
verfasst von:
Jing Hu, Yuan Li, Li Zhang, Guangxin Peng, Fengkui Zhang, Xin Zhao
Erschienen in:
Medical Molecular Morphology
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Ausgabe 3/2023
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Abstract
Hereditary hemochromatosis type 4 is an autosomal-dominant inherited disease characterized by a mutation in the SLC40A1 gene encoding ferroportin. This condition can be further subdivided into types 4A (loss-of-function mutations) and 4B (gain-of-function mutations). To date, only a few cases of type 4B cases have been reported, and the treatment has not been clearly mentioned. Here, we report a genotype of hereditary hemochromatosis type 4B involving the heterozygous mutation c.997 T > C (p. Tyr333His) in SLC40A1. The patient was treated with red blood cell apheresis every month for 1 year, followed by oral deferasirox, and the combined therapy was found to be effective.