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Is There No End to Genetic Hazards?

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Stop This Corroded World — I Want To Get Off!

Most of the time I love the world and appreciate its beauties. I honor the Creator, and appreciate all the blessings He showers upon me daily, but there are times, like today, when learning of some of the things that happen to people are just too much to bear!

Even Babies Can Die of Hemochromatosis?

How often I have declared that I was “letting go” of Hemochromatosis, only to be forced to discover that it will not let go of me, and here I go again! For many years, ever since my husband died a cruel death as a result of the destruction caused in his body by an overload of iron, I have agonized about how ‘iron hides it’s evils behind a grinning mask of virtue,’ and I can never be grateful enough to Prof. Thomas Bothwell for his dedicated research which finally led to a diagnosis at the Johannesburg General Hospital, after he, my husband had been ill for eight years! It is comforting to know that since that time much has been said and written about this inherited disorder and its involvements; neverthless, although I am able to accept the fact that there are indeed those who need to take iron supplements and eat iron-enriched food, the very thought of it makes me cringe.

Of course, this is due to the fact that the greater part of my own life has been devoted to agonizing, writing, and talking about HH, and yet many doctors still remain ignorant and it infuriates me that many of those who have heard of it do not readily believe that it is anything but rare, which it is not! In Canada, for instance, it is estimated that one in every 300 people will die of hemochromatosis—although the solution is available—and, if patients are caught in time, and stick to the prescribed regime, there is no reason why they should not live to a ripe old age. However, after having also been equally voluble about chrondrocalcinosis, by which I, for instance, as a ‘heterozygote’ (meaning a carrier of one gene only for hemochromatosis) have been crippled, I must acknowledge that their existence will not necessarily be pain-free.

A New Horror! Even Babies Can Die of Hemochromatosis!

I found this hard to believe until Professor Patrick MacPhail, a former colleague of Professor Bothwell, confirmed it. “Most definitely true!” says the professor. “As we learn more about the very complex way that the body manages iron, more opportunities for things to go wrong are discovered. We used to think of hemochromatosis as a single disease, but it is not. When it presents and how bad it is depends on which gene/protein combination has gone wrong. We now know that many of the severe cases, presenting very young, are due to mutations in novel genes that have worse effects than the ‘common’ form. To my knowledge, the cause of neonatal haemochromatosis (not to be confused with ‘Juvenile Hemochromatosis’) is not yet known. It is very rare and usually fatal within the first few months of life.”

Neonatal haemochromatosis Should Not to Be Confused With ‘Juvenile Hemochromatosis’

What confuses many people is that the naming of the various types becomes matter of age. Type 1 Hemochromatosis — the most common form of the disorder — is classified by type, depending on the age of onset and other factors such as genetic cause and mode of inheritance, and is what we usually think of when we hear the word ‘hemochromatosis’. — It is caused by inheriting two genes, one from each parent, and such a person is known as a “homozygote” for HH.(‘Heterozygote’ describes someone with only one) Types 1 and 4 are adult-onset disorders, and men with type 1 or type 4 hemochromatosis typically develop symptoms between the ages of 40 and 60, whereas women usually develop symptoms after menopause, but I personally know of a young woman who was diagnosed at age 32!

Types 2 and 3 Hemochromatosis, Are ‘Juvenile-Onset’ Disorders. Type 3 (Somewhere Between 1 and 2.)

In the case of both these maladies, iron accumulation begins early in life. Symptoms may begin to appear in childhood and, by age 20, decreased or absent secretion of sex hormones is evident. Females usually begin menstruation in a normal manner, but menses stops after a few years. Males, on the other hand may experience delayed puberty or sex hormone deficiency symptoms like impotence. If the disorder is untreated, symptoms of heart disease become noticeable by age 30. Occurring between two extremes, symptoms of type 3 hemochromatosis mostly begin to manifest before age 30.

Babies With Hemochromatosis
In rare cases, iron overload begins before birth. These cases are what is referred to as Neonatal Hemochromatosis. This type progresses rapidly and is characterized by liver damage which is apparent at birth or in the first day of life. Leaning of this is what has precipitated this article!

I once heard Professor Bothwell give an absorbing speech entitled “Iron in My Soul,” in which he painted a word picture of his enduring passion from the early days of his research. I thank God for him and others like him, and I just have to take it when I am accused of suffering from “Iron on the brain!”

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About Marie Warder

Born in South Africa, became a journalist and later trained as a teacher before establishing my own school - "Windsor House Academy, of which I remained the principal until I emigrated to Canada. Love to write, and have published 27 books. Played the piano in my husband's dance band for 33years. Founder and President Emerita of the the Canadian, South African and in International Association of Hemochromatosis Societies, http://en.wikipedia.org/wiki/Marie_Warder
  • Rita Deschamps

    I don’t know how you do it! Thank you so much for keeping us up-to-date on the subject of Hemochromatosis. Our family has been badly affected by it, but after reading your article all I could say was: “Thank God our babies were alright, and with regular bloodletting the grown-ups are okay, too.
    Keep up the good work!

  • Marie Warder

    Thank you for your kind words, Rita. I think I’m just about ready to quit. I find that I take all this too much to heart.

  • Elaine Murray

    I agree with Rita and have just posted this on Facebook: “In response to what somebody has written to thank you for keeping us “up-to-date” on Hemochromatosis, I had the impression that you did not like writing that article. How often I’ve heard you refer to patients with hemochromatosis as “My beloved Hemies,” and having known you long enough to be able to read between the lines, I can only imagine how hard it was to write about babies with this disorder. Maybe the writer of that message feels as I do, that perhaps it’s time for you to quit. Your only health has already been compromised to an extent that I am sure can only give your family cause for concern.

  • Igor

    Marie, thanks for publishing this article on Blogcritics. I had despaired of finding any worthwhile science/medicine articles on BC.

    My interests right now are with the excellent series of Charlie Rose interviews/discussions on PBS featuring Eric Kandel.Tonight they discussed Parkinsons, Huntingtons, Alzheimers and Kreuetzfel-Jakobs. If you haven’t seen it I think it’s available on PBS reruns, or maybe MVGroup. It’s actually a great PBS series.

  • http://en.wikipedia.org/wiki/Marie_Warder Marie Warder

    Thank you for the tip.I have an article about Parkinson’s somewhere in this magazine but my obsession is with iron overload.I tried to post a link but it was denied.
    Once again, thank you for writing.

  • Marie Warder

    Re-Reading your comments I can only be grateful for that you take the trouble to read my articles.