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.
Heterozygous.