Skip to main content
. 2019 Apr 29;10(2):163–169. doi: 10.1016/j.jceh.2019.04.051

Table 4.

Previous Reports of Patients With HJV Mutations Presenting Above the Age of 30 Years.

Year Age Sex Diabetes Cardiac TS, % Ferritin, ng/mL HFE HJV Ref
2005 48 M Yes AF 95 6115 No D249H 14
51 M Yes CCF 96 2280 No Q312X
51 F Yes ? 96 4278 No Q312X
2009 32 M No ? 100 3756 No L194P 15
2010 31 F ? No 85 3542 No G320V 16
2010 58 F ? ? 60 443 H63Da A310Ga 17
46 F ? ? 95 2794 No c.-36G > C
2013 39 F ? CCF 100 116,070 No G320V 18
2014 37 M Yes No 60 >2000 No Q6Ha
C321Xa
19
47 M Yes ? 40 >2000 No
2018 45 M Yes No 94 3136 H63Da G336X 7
49 F No No 100 1700 No G336X
38 F Yes No 69 9400 No G336X
47 M Yes Yes 91 12,433 No G336X
43 M Yes No 79 2800 No c.-36G > A
c.-358G > A
32 F Yes Yes 68 4250 No
2018 68 F Yes Yes 99 3987 No C317S 20
2018 53 M No ? 86 4220 R41Pa
R176Ca
21
31 M No ? 91 3700 G320V
31 M No ? 100 2300 L101Pa
H180Ra
60 F Yes ? 86 4800 L101Pa
A384Va
32 M No ? 90 4959 R288W

AF, atrial fibrillation; CCF, congestive cardiac failure; HFE, homeostatic iron regulator; HJV, hemojuvelin; TS, transferrin saturation; ?, Not specified.

a

Heterozygous.