Article
Mild Hereditary Spherocytosis without Accompanying Hereditary Haemochromatosis: An Unrecognised Cause of Iron Overload
Acta Haematologica
(2019)
Abstract
Hereditary spherocytosis (HS) is a common inherited haemolytic anaemia and has great variability in its presentation. Non-transfusion iron overload in HS has only been reported with co-inheritance of hereditary haemochromatosis (HHC). We present 4 unrelated patients of East Asian ethnicity with mild HS and significant non-transfusion iron overload in the absence of known disease-causing mutations in HHC genes. We hypothesise that, in patients with mild HS, life-long chronic haemolysis and erythropoietic drive may promote iron absorption. This suggests that mild HS may not be entirely benign, and that patients with mild HS should be monitored for iron overload
Keywords
- Hereditary haemochromatosis,
- Iron overload,
- Spherocytosis
Disciplines
Publication Date
2019
Citation Information
Soumitra Tole, Ali Amid, Jillian Baker, Kevin Kuo, et al.. "Mild Hereditary Spherocytosis without Accompanying Hereditary Haemochromatosis: An Unrecognised Cause of Iron Overload" Acta Haematologica (2019) Available at: http://works.bepress.com/soumitra-tole/4/