Human Genetic Disorders - Research Report

Human Genetic Disorders - Research Report

Hereditary Haemochrmatosis

BIO3U - Reuben D'Souza B2

Hereditary Haemochromatosis(can be spelled hemochromatosis), is a genetic disorder that is characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction.

Early symptoms of the genetic disorder are somewhat unclear and vague, which makes it easy to mistake hemochromatosis for another condition. Some of the early symptoms include:

* Fatigue.

* Weakness.

* Joint pain.

* Weight loss.

* Abdominal pain.

* Decreased sexual drive.

* Change in skin color (darker).

* Increased urination.

At more advanced stages of the disorder, Hemochromatosis lead to the following conditions if the disorder has not been treated in time:

* Arthritis.

* Liver disease and cirrhosis

* Diabetes.

* Growth hormone problems

* Sexual organ problems

* Heart failure.

Symptoms most often develop between the ages of 40 and 60. Males are usually diagnosed after their forties, and women about a decade later, owing to regular iron loss by menstruation (which ceases in menopause), but cases have been found in young children as well. According to some, a one-time study of iron levels early in adult life would be sufficient to evaluate an individual. There is, however, a tendency for iron to accumulate over a prolonged period of time. It is therefore questionable whether screening should be undertaken at all. Only the most severe cases would be detected by a one-time ferritin check.

Hereditary hemochromatosis is the most common genetic disorder in white people, especially those of Northern European descent. Hemochromatosis occurs in 3 to 5 per 1,000 white people. Men are 5 to 10 times more likely than women to develop the disorder. The blood lost through menstruation and pregnancy may reduce the amount of iron stored in the body and cause delayed development of hemochromatosis symptoms in women.

Carriers of a single copy of either gene have a very slight risk of haemochromatosis when other factors contribute, but are otherwise healthy. Even if an individual