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How is HFE hereditary haemochromatosis diagnosed?

See how HFE hereditary haemochromatosis is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of HFE hereditary haemochromatosis

HFE hereditary haemochromatosis diagnosis
11 answers
Simple blood tests for high serum ferritin and transferrin saturation levels will indicate a suspicion of haemochromatosis.
A genetic test of the HFE gene will then indicate whether the genes have certain mutations that may lead to haemochromatosis.

Posted May 20, 2017 by Tony Moorhead 2051
By looking into your blood how much iron is in there.

Posted Jun 3, 2017 by bewiki 4317
Genetic testing and iron panels

Posted Jul 22, 2017 by Tina 1501
HFE is confirmed through a genetic test. However, you can figure out if genetic testing is necessary based on your ferritin, iron, and iron saturation levels. If they are high, you may want to get the genetic test for HFE.

Posted Jul 22, 2017 by alohaitsaj 1501
Blood test. At least ferritin, transferin saturation, etc., if not a complete iron panel. If suspected, genetic testing (blood) may be ordered to confirm. Hematologists are generally best at diagnosing HH.

Posted Jul 22, 2017 by Salena 2001
This condition is diagnosed through blood tests, firstly a ferretin check then if noticed to be high should receive a gene test to look for abnormalities in the HFE gene

Posted Jul 23, 2017 by Lorna 701
Ferriten and trans ferriten blood tests.

Posted Jul 23, 2017 by Warbychick 1901
Iron overload can be determined with blood tests. Hereditary hemochromatosis requires a DNA test.

Posted Jul 23, 2017 by Stacy 550
You first measure the Transferrin Saturation fasting two times in a row with some weeks in between. If both tests show Transferrin Saturation above 45 % there is a strong indication. The doctor may then look at the Serum Ferritin value and if this is over 200/300. A gene test is then the next natural step. Normally this is not a full sequencing but just a check towards the most known mutations one one of the genes. The most common gene involved is HFE and the three most common mutations are C282Y, H63D, S65C all listed with their short names. A negative gene check like that does not conclude that there is no hereditary haemochromatosis. There are at least 110 known mutations on at least 6 genes involved in the risk of taking up too much iron from the diet. Many of the mutations are however rare or even only found in certain families.

Posted Jul 25, 2017 by Ketil Toska 2051
Genetic testing for C282Y gene and other genetic markers

Posted Aug 2, 2017 by Natalie 2000
I had a blood test from my primary doctor.

Posted Sep 8, 2017 by Eileen 700

HFE hereditary haemochromatosis diagnosis

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Stories of HFE hereditary haemochromatosis

HFE HEREDITARY HAEMOCHROMATOSIS STORIES
HFE hereditary haemochromatosis stories
Discover as one of the first in Bergen, Norway. Both my brothers were caught because of me. Become the first blodd donor with Haemochromatosis on Haukeland sykehus. Have 1round 130 accepted blood donations and the double for sience.. Very happy to b...
HFE hereditary haemochromatosis stories
I originally come from Kiel, Germany and moved to the UK in 1985. In 2005, I was finally diagnosed with Hamochromatosis which has affected my joints very badly. After having been venesected for about 6 months in 2005/2006, the arthritis got worse&nbs...
HFE hereditary haemochromatosis stories
Until March 2016 I did not know I had haemochromotosis, but the signs and symptoms have been there for three years chronic fatigue, aching joints, lack of libido and at times crankier than normal being a working mum of two teenage girls and a wife of...
HFE hereditary haemochromatosis stories
I was feeling sick and went to my GP, who said I need some ferritin tablets and calsuim, well I got it and drank it , like my Gp told me, the following day I started icthing, then it sarted out with big red marks on my arms and all over my body, phon...
HFE hereditary haemochromatosis stories
I was diagnosed three years ago after both my parents tested positive for the HHC genes. My Dad is a C282Y carrier but my mum is Homozygous with 2 copies of the H63D gene, which was sadly diagnosed far too late. Both my sister and myself are Compound...

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