“I received a positive genetic test for HH (homozygous C282Y) in mid-January and was referred to a hematologist, who ruled out the additional scare of lymphoma and got me started on a weekly phlebotomy regime in February - which will continue as long as my hemoglobin stays reasonable and my ferritin levels are lowered to a target of 50.
“Even with my out-of-the-ordinary lab results, it still took five months to get my diagnosis with HH. I am a young, healthy man with no other medical problems. I did not have unusual abdominal pain or fatigue. Out of all the symptoms that could be attributed to HH, I only ever experienced joint pain in the thumb and forefinger of both my hands. However, I had gone to the doctor about this four years ago, which he and I both chalked up to repetitive stress from daily computer work. The doctor suggested I wear wrist guards, which I have been religiously wearing since, and have helped reduce my wrist and hand pain, but not eliminated it. My ferritin level continues to be high (in the high 5,000s) and I have a number of appointments lined up with specialists (including an MRI scan and echocardiogram) to help assess the extent of damage my iron overload has had on my system.
“The purpose of my story is that had I not had the test from my insurance company, I am sure I would have suffered more severely from HH within the next decade. I now encourage my friends and acquaintances to have their ferritin tested by their doctors whether they have HH in their family or not particularly if they have any of the following symptoms: Transferrin saturation percentage (TSAT) is also an important diagnostic tool,. which, if elevated, is a good indicator that HH is present.
“I’ve been told that I must be the quarterback of my own health and stay on top of my treatment and conditions related to HH. I’ve pushed to see not only a hematologist, but also other specialists like cardiologists, gastroenterolo-gists and so on because HH is a multi system disorder especially depending on the severity of its impact when diagnosed.