What do high ferritin and transferrin saturation with mutation of SLC40A1 gene marker mean?

Hello,

Welcome to icliniq.com.

Having H63D (histidine at amino acid position 63) carrier does not indicate a diagnosis of hemochromatosis. Similarly, you have one of the gene alleles for ferroportin disease. However, the transferrin saturation should be low in ferroportin disease. On the other hand, the same gene is also associated with hemochromatosis, the excessive accumulation of iron in the liver and other tissues like bones, heart, and pancreas. I would like to see your liver function test and serum ferritin level and transferrin saturation since a transferrin saturation of more than 55% and ferritin of more than 500 mcg/L on a background of the characteristic genetic mutation for hemochromatosis would diagnose the disease irrespective of liver biopsy.

It will help if you share your reports of the liver function tests and abdomen ultrasound. Please do share the current iron profile as well.

Thanks.

Hello,

Welcome back to icliniq.com.

Thanks for providing further information in your case.

Your liver function tests are normal. The raised alanine transferase may be because of alcohol or due to some drug side effects. Neither your fibroscan nor your weight suggests that you have NAFLD (non-alcoholic fatty liver disease) as the diagnosis of NAFLD is established in overweight individuals, with the presence of fat in the liver and disturbed liver function tests.

I suggest you check hepatitis B and hepatitis C profiles and stool antigens to check H.pylori infection before starting the course of antibiotics.

I hope this answers your concerns.

Regards.