Ep1: Diagnosing haemochromatosis in general practice with Dr Robert Menz
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- Опубликовано: 11 май 2024
- Video of Episode 1 of the IRON MATTERS podcast series. Dr Menz, an Adelaide based GP, medical educator and life member of RACGP talks about best practice in diagnosing hereditary haemochromatosis in general practice.
As someone who has a very minor form of this. Single h63d, unknown s65c, but something was up because I had a 60% saturation and symptoms even with normal ferritin. In my case donating blood a couple of times a year has been wonderful for the brain fog, the metallic taste I would get in my mouth sometimes. The fatigue. I could only imagine how bad this would be for someone who had a pair of c282y. Wish I would have known how easy this was to treat when I was younger and began developing symptoms in my 30s.
Did I just read that you have H63D/S65C as in mild iron overloading? If so then thank you because I have S65C Homozygous as this S65C/S65C mutation diagnosed in June 2019 the highest my ferritin level got to was 451 in March 2020. It was suggested to my then doctor at the same clinic I still attend,that going by my elevated ferritin levels that I needed to be tested for Haemochromotosis. I was stunned with the results. I struggle with severe migraines and also Stroke like symptoms from them,diagnosed with having Hemiplegic migraines last year with white matter ischemia changes of the brain. Symptoms I have are numerous including a gastric illness as I also have chronic comorbidity conditions with scarring of the lungs,reproductive organs and now my liver.
I am reminded every 3 months by my doctor under the recommendation of my Hematologist who I saw for 12 months for extensive testing,including two ultrasounds of my liver,to have iron panel and liver enzymes tested. Every 3 months they take blood for tests not for venesections which due to being susceptible in being anaemic I cannot have. I am 49 years old.
I wonder when do we start giving blood? My ferritin is up to 700.
I am à 62 years old woman. Also diagnosed with sjogrens and rhumatoïd arthritis. Thank you very much for this interesting video.
Where in Australia do you practice doctor? You sound very thorough and caring. Would love a GP like yourself 😊
Very interesting,well said 👍👍
I have Compound variant C282y & H63D. I have Supra ventricular tachycardia which is now Peripheral Atrial Fibrillation, then developed T2 diabetes in 2021. My fathers family have a serious history of strokes, mothers family aortic aneurysms. I’m 66 and have been fighting for 2 yrs to get a genetic test even though both brother and sister had been diagnosed. Today saw a dr who has said none of those health issues are connected to GH!! Fighting ignorance. All that was carried out were blood tests and was told highest score was 300 ferritin, I said that was for men. I was hoping for 1 -2 venesections to see if they would improve my PAF & T2D🤷🏼♀️ UK
Mother had really bath arthritis. I’ve suffered hip, back pain for years. Had part replaced knee and arthritic big toe joints that are seemingly inherited. Now, degenerated neck 5&6 cervical spine.
I agree