FTH1-dependent iron overload

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Classification according to ICD-10
E83.1 Iron metabolism disorders
ICD-10 online (WHO version 2019)

The FTH1-dependent iron overload is a very rare congenital form of hemochromatosis (type 5).

Synonyms are: iron overload, autosomal dominant; Hemochromatosis type 5

The first description comes from 2001 by the Japanese doctors Junji Kato, Koshi Fujikawa, Megumi Kanda and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far only one family has been reported. The inheritance is autosomal dominant .

root cause

Of the disease are mutations in FTH1 - gene on chromosome 11 locus q12.3 based, which for the ferritin heavy chain element of Eisenspeicher- protein ferritin coded.

Clinical manifestations

These were incidental findings in those affected asymptomatic with regard to iron overload.

Diagnosis and treatment are the same as described in Hemochromatosis .

Individual evidence

  1. ↑ a b FTH1-dependent iron overload. In: Orphanet (Rare Disease Database).
  2. ^ Rare Diseases
  3. ↑ J. Kato, K. Fujikawa, M. Kanda, N. Fukuda, K. Sasaki, T. Takayama, M. Kobune, K. Takada, R. Takimoto, H. Hamada, T. Ikeda, Y. Niitsu: A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. In: American Journal of Human Genetics . Volume 69, number 1, July 2001, pp. 191-197, doi: 10.1086 / 321261 , PMID 11389486 , PMC 1226033 (free full text).
  4. ↑ Hemochromatosis, type 5.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ FTH1

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