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!”
Article comments
1 - 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!
2 - 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.
3 - 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.
4 - 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.
5 - 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.
6 - Marie Warder
Re-Reading your comments I can only be grateful for that you take the trouble to read my articles.