Variable workup calls for guideline development for type 2A hereditary haemochromatosis.

CONCLUSION: Three genetic variants caused type 2A HH in six families. Clinical diagnosis was delayed in two subjects. We observed variance in presentation, workup, follow-up and treatment. We found new complications in long-term iron-depleted patients. We recommend research and guidelines for optimal workup, follow-up and treatment of type 2A HH.
PMID: 30362946 [PubMed - in process]

Source: The Netherlands Journal of Medicine - October 1, 2018 Category: General Medicine Authors: Smit SL, Peters TMA, Gisbertz IAM, Moolenaar W, Hendriks Y, Vincent HH, Houtsma D, Loosveld OJL, van Herwaarden AE, Rennings AJM, Swinkels DW Tags: Neth J Med Source Type: research