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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Variable workup calls for guideline development for type 2A hereditary haemochromatosis.
S L Smit1, T M A Peters, I A M Gisbertz
1Radboud University Medical Centre for Iron Disorders, Nijmegen, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, the Netherlands.
Type 2A hereditary haemochromatosis (type 2A HH) is a rare genetic iron overload disorder. This study highlights varied patient presentations, diagnostic delays, and treatment approaches, emphasizing the need for improved guidelines.
Area of Science:
- Genetics
- Hematology
- Endocrinology
Background:
- Type 2A hereditary haemochromatosis (type 2A HH) is a rare iron-loading disorder.
- It is caused by mutations in the HFE2 gene, encoding the HJV protein.
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