Extremely rare association of HFE mutations with porphyria cutanea tarda in japanese patients

✍ Scribed by Kazumichi Furuyama; Masao Kondo; Kenji Hirata; Hiroyoshi Fujita; Shigeru Sassa

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 48 KB
• Volume: 30
• Category: Article
• ISSN: 0270-9139
• DOI: 10.1002/hep.510300627

✦ Synopsis

et al. 6 who also found no association between the C282Y mutation and SPCT.

The H63D mutation was observed in 10 of the 48 PCT patients corresponding to 20.8%. Of the 10 individuals diagnosed, 4 belonged to the familial form of PCT and 6 to the sporadic form. The mutations detected were all heterozygous. The patient carrying the C282Y mutation was also heterozygous for the H63D mutation and therefore a compound heterozygote. The H63D mutation was observed in Bulgaria in control individuals in a comparable frequency (23.0%) as previously reported by Sampietro et al. 6 (24.1%) and Gottschalk et al. 14 (22.0%) for Italy and Germany, respectively. In accordance with German control individuals, 14 no homozygous mutation was detected in healthy Bulgarians. However, we did not find an increased frequency of H63D in PCT patients from Bulgaria in contrast to the study from Italy. 6 The frequencies of the H63D mutation in healthy Bulgarians and PCT patients were almost identical.

In conclusion, our data emphasize the population variation in the prevalence of HFE mutations and argue against an association between both the C282Y and H63D mutation and PCT.

Acknowledgment: The authors thank D. Leonkeva and S. Hartung for their skillful assistance. The fruitful discussions and suggestions from M. Shipkova are gratefully acknowledged.