Iron overload in the Asian community.
Hereditary hemochromatosis is an iron overload disorder that can lead to the impairment of multiple organs and is caused by mutations in one or more different genes. Type 1 hemochromatosis is the most common form of the disease and results from mutations in the HFE gene. Juvenile hemochromatosis (JH) is the most severe form, usually caused by mutations in hemojuvelin (HJV) or hepcidin (HAMP). The autosomal dominant form of the disease, type 4, is due to mutations in the SLC40A1 gene, which encodes for ferroportin (FPN). Hereditary hemochromatosis is commonly found in populations of European origin. By contrast, hemochromatosis in Asia is rare and less well understood and can be masked by the presence of iron deficiency and secondary iron overload from thalassemia. Here, we provide a comprehensive report of hemochromatosis in a group of patients of Asian origin. We have identified novel mutations in HJV, HAMP, and SLC40A1 in countries not normally associated with hereditary hemochromatosis (Pakistan, Bangladesh, Sri Lanka, and Thailand). Our family studies show a high degree of consanguinity, highlighting the increased risk of iron overload in many countries of the developing world and in countries in which there are large immigrant populations from these regions.
Lok
Chun Yu
CY
Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom. chunyu.lok@ccc.ox.ac.uk
Merryweather-Clarke
Alison T
AT
Viprakasit
Vip
V
Chinthammitr
Yingyong
Y
Srichairatanakool
Somdet
S
Limwongse
Chanin
C
Oleesky
David
D
Robins
Anthony J
AJ
Hudson
John
J
Wai
Phyu
P
Premawardhena
Anuja
A
de Silva
H Janaka
HJ
Dassanayake
Anuradha
A
McKeown
Carole
C
Jackson
Maurice
M
Gama
Rousseau
R
Khan
Nasaim
N
Newman
William
W
Banait
Gurvinder
G
Chilton
Andrew
A
Wilson-Morkeh
Isaac
I
Weatherall
David J
DJ
Robson
Kathryn J H
KJ