Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5'-aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants

Br J Haematol. 2022 Jan;196(2):e17-e20. doi: 10.1111/bjh.17810. Epub 2021 Sep 6.

Authors

Christian de Gennes¹, Jérôme Lamoril², Adrien Borgel², Camille Boi², Raphael Yao², Catherine Boileau^{2

3}, Dimitri Tchernitchko²

Affiliations

¹ Département de Médecine Interne, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France.
² Département de Génétique, AP-HP, Hôpital Bichat, Paris, France.
³ INSERM U1148, Université de Paris, Paris, France.

PMID: 34490613
DOI: 10.1111/bjh.17810

No abstract available

Keywords: 5ʹ-aminolevulinate synthase 2 (ALAS2); haemochromatosis; homeostatic iron regulator (HFE); iron overload.

Publication types

Case Reports
Letter

MeSH terms

5-Aminolevulinate Synthetase / chemistry
5-Aminolevulinate Synthetase / genetics*
Adult
Biomarkers
Biopsy
Female
Genetic Association Studies
Genetic Predisposition to Disease*
Hemochromatosis Protein / chemistry
Hemochromatosis Protein / genetics*
Humans
Iron Overload / diagnosis*
Iron Overload / etiology*
Loss of Heterozygosity
Magnetic Resonance Imaging
Mutation*
Pedigree
Phenotype
Severity of Illness Index
Structure-Activity Relationship
Symptom Assessment

Substances

Biomarkers
HFE protein, human
Hemochromatosis Protein
5-Aminolevulinate Synthetase
ALAS2 protein, human