Mild Hereditary Spherocytosis without Accompanying Hereditary Haemochromatosis: An Unrecognised Cause of Iron Overload.

Authors:
Soumitra Tole
Soumitra Tole
The Hospital for Sick Children Research Institute
Canada
Dr Ali Amid, MD
Dr Ali Amid, MD
Hospital for Sick Children
Pediatric Hematology/Oncology
Toronto, ON | Canada
Jillian Baker
Jillian Baker
Institute of Cell Signalling
Kevin Kuo
Kevin Kuo
University Health Network
Manuel Carcao
Manuel Carcao
Hospital for Sick Children

Acta Haematol 2019 9;141(4):256-260. Epub 2019 Apr 9.

Department of Paediatrics, Division of Haematology/Oncology, Hospital for Sick Children, Toronto, Ontario, Canada,

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.

Download full-text PDF

Source
http://dx.doi.org/10.1159/000497175DOI Listing
April 2019
2 Reads
0.994 Impact Factor

Publication Analysis

Top Keywords

iron overload
16
non-transfusion iron
8
patients mild
8
hereditary haemochromatosis
8
hereditary spherocytosis
8
iron
5
mild
5
reported co-inheritance
4
east asian
4
overload reported
4
promote iron
4
asian ethnicity
4
patients east
4
haemochromatosis hhc
4
hhc unrelated
4
ethnicity mild
4
unrelated patients
4
co-inheritance hereditary
4
iron absorption
4
absence disease-causing
4

Similar Publications