Gene Test for SLC40A1

I share your frustration!  I live in Canada, where gene testing for ferroportin disease is not available at all.  There is a provision for arranging out-of-country testing in the province where I live, but my hematologist and a hematologist he consulted said that genetic testing was not indicated in my case.  (My situation is consistent with ferroportin loss-of-function disease:  my highest ferritin was 1438 ug/L with normal transferrin saturation, deironing was carried out by removing 7.45 L of blood over about a year and a half, and I developed low hemoglobin during phlebotomy so that I had to increase the time between phlebotomies to over a month.)  I had asked for genetic testing because

a) if I know the reason I overload on iron, I may be able to learn more that will help me understand what tissue damage may already have been caused (I am postulating some sort of damage because although I stopped getting worse once I started phlebotomy, I didn't get better) and possibilities for correcting or at least treating the results of the damage, what my maintenance ferritin target should be to prevent further tissue damage, and what the implications of my disorder might be on handling of minerals other than iron, and

b) I will be able to advise my family members, including my children, on the implications of my diagnosis for them. 

Unfortunately, I guess these reasons weren't considered adequate, so I am now trying to find some other way to get tested.

If you are an American citizen, you might be eligible to participate in a iron metabolism disorders study in the US?  If that turned out to be possible, you wouldn't have to pay for testing and you would be helping increase knowledge about iron disorders. 

I found one study on the Clinical Trials website that says it's currently recruiting ( https://www.clinicaltrials.gov/ct2/show/NCT00102245?recr=Open&no_unk=Y&cond=hematologic&spons=NIDDK&rank=2) : “Clinical and Laboratory Investigation of Humans With Informative Iron or Erythroid Phenotypes . . . Patients of all ages with red cell abnormalities in the following categories may be eligible for this study:  Diseases with deficiency, overload or maldistribution of iron . . . “

You might also want to check if the Finberg Lab at Yale (http://medicine.yale.edu/lab/finberg/index.aspx ) has a iron metabolism disorders genotyping study underway for which you would qualify.

The centerwatch site (https://www.centerwatch.com/clinical-trials/listings/condition/403/iron-overload-hemachromatosis ) isn’t showing any trials on iron overload right now, but you can sign up to be alerted if a new study on iron overload is posted.

I hope some of this might be helpful for you -

Hi,

I agree as Ferroportin Disease is autosomal dominant, one of your parents must carry the faulty gene, I was tested for C282Y and H63D which are the classic faulty genes for Haemocromatosis and was negative for both - I was very lucky as high ferritin was diagnosed when my daughter became pregnant >3000 at the age of 23, they requested that both me and her mother were tested, her mother ferritin is normal, they are almost certain that she has Ferroportin Disease too, her conformation should come through shortly, they have now requested my father to be tested, sadly my mother is no longer alive, which is where I believe the faulty gene has come from, maybe wrong time will tell….

Richard