Page 145 - 86 human physiology part-2

Chapter 18

Inherited Genetic Disease

Some of the most common inherited diseases are hemochromatosis, cystic fibrosis, sickle cell
anemia and hemophilia. They are all passed along from the parents and even if the parents don't show
signs of the disease they may be carriers which mean that all of the children they have may be born
with the disease. There is genetic testing that may be done prenatally to determine if the baby is
conflicted with one of these diseases.

Hemochromatosis

Even though most people have never heard of hemochromatosis it is the most common inherited
disease. About 1 in 300 are born with hemochromatis and 1 in 9 are carriers. The main characteristic is
the intake of too much iron into the inflicted body. Iron is crucial to the workings of hemoglobin but
too much iron is just as bad as too little iron. With hemochromatosis deposits of iron form on almost
every major organ especially the liver, heart and pancreas, which causes complete organ failure.
Hemochromatosis patients usually absorb two or three times the iron that is needed for normal people.
Hemochromatosis was first discovered in 1865 and most patients have Celtic ancestry dating back 60
or 70 generations.

Treatments for hemochromatosis

The most common treatment for hemochromatosis is to induce anemia and maintain it until the
iron storage is reduced. This is done by therapeutic phlebotomy. Phlebotomy is the removal of a unit of
blood (about 500 mls.) This must be done one to two times a week and can take weeks, months, or
years to complete. After this treatment some patients will never have to do it again and others will have
to do it many times over the course of their life. Patients who undergo their recommended treatments
usually go on to live a long and healthy life. Patients who decide against treatment increase their
chances of problems such as organ failure -- or even death. Along with phlebotomy treatment, patients
should stick to a low iron diet and should not cook with iron cookware.

Cystic Fibrosis (CF)

Cystic fibrosis is a disease that causes thick, sticky mucus to build up in the lungs and digestive
tract. It is the most common lung disease in children and young adults and may cause early death. The
mucus builds up in the breathing passages of the lungs and in the pancreas. The build up of the mucus
results in terrible lung infections and digestion problems. Cystic fibrosis may also cause problem with
the sweat gland and a man's reproductive system. There are more than 1,000 mutations of the CF gene,
symptoms vary from person to person. The most common symptoms are: No bowel movements for the
first 24 to 48 hours of life, stools that are pale or clay colored, foul smelling or that float, infants that
have salty-tasting skin, recurrent respiratory infections like pneumonia, coughing or wheezing, weight
loss or low weight gain in childhood, diarrhea, delayed growth, and excessive fatigue. Most patients are
diagnosed by their first birthday but less severe cases sometimes aren't caught until after 18 years of
age. 40% of patients are over 18 years old and the average life span of CF patients is about 35 years
old, which is a huge increase over the last 30 years. Patients usually die of lung complications.

360 | Human Physiology