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!”