Iron chelators reverse organ damage in type 4B hereditary hemochromatosis: Case reports

Medicine (Baltimore). 2021 Apr 2;100(13):e25258. doi: 10.1097/MD.0000000000025258.

Abstract

Rationale: Hereditary hemochromatosis (HH) is a hereditary disorder of iron metabolism. It is classified into 4 main types depending on the underlying genetic mutation: human hemochromatosis protein (HFE) (type 1), hemojuvelin (HJV) (type 2A), HAMP (type 2B), transferrin receptor-2 (TFER2) (type 3), and ferroportin (type 4). Type 4 HH is divided into 2 subtypes according to different mutations: type 4A (classical ferroportin disease) and type 4B (non-classical ferroportin disease). Type 4B HH is a rare autosomal dominant disease that results from mutations in the Solute Carrier Family 40 member 1 (SLC40A1) gene, which encodes the iron transport protein ferroportin.

Patient concerns: Here we report 2 elderly Chinese Han men, who were brothers, presented with liver cirrhosis, diabetes mellitus, skin hyperpigmentation, hyperferritinaemia as well as high transferrin saturation.

Diagnosis: Subsequent genetic analyses identified a heterozygous mutation (p. Cys326Tyr) in the SLC40A1 gene in both patients.

Interventions: We treated the patient with iron chelator and followed up for 3 years.

Outcomes: Iron chelator helped to reduce the serum ferritin and improve the condition of target organs, including skin, pancreas, liver as well as pituitary.

Lessons: Type 4B HH is rare but usually tends to cause multiple organ dysfunction and even death. For those patients who have difficulty tolerating phlebotomy, iron chelator might be a good alternative.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Asian People / genetics
  • Cation Transport Proteins / deficiency*
  • Cation Transport Proteins / genetics
  • Hemochromatosis / genetics*
  • Hemochromatosis / therapy*
  • Humans
  • Iron Chelating Agents / therapeutic use*
  • Male
  • Middle Aged
  • Mutation / genetics*

Substances

  • Cation Transport Proteins
  • Iron Chelating Agents
  • metal transporting protein 1

Supplementary concepts

  • Hemochromatosis, type 4