Drop Dead Symptoms and Genetic Diseases
How many times do we hear about someone dropping dead. An aunty of my best friend visited her daughter and as the door opened she dropped dead. Then years later my father's partner was drinking a cup of tea when she suddenly dropped dead. In another case a friend of my sister's was having a glass of beer when she suddenly expired. My cousin-in-law went to bed in perfect health and never woke up.
So is there an explanation? Is this something that comes out of the blue and can affect anyone of us?
A recent report in the English Sun newspaper (13th May 2010) states that experts in that country want such deaths classified as "Sudden Adult Death Syndrome or SADS as some 3,500 apparently healthy Britons drop dead each year "for no apparent reason", Some scientists are calling it the fault of the Death Gene. But deadly genes display themselves in almost every fatal disease whereby the program given to you at birth from your parents heralds your fate.
How death genes work?
Sudden Death Syndrome
My first introduction to death genes came in a biology class where juvenile amaurotic idiocy was mentioned. It is a genetic disease passed on through recessive genes explained in detail here
It is defined as "a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death". Children can be dead by the age of 15 and rarely live past 25. In today's medical world such a condition, if suspected, can be diagnosed in the womb and pregnancy terminated.
Certain ethnic groups have genetic problems, such as among Ashkenazi Jewish descendants who suffer from Canavan Disease. It affects the central nervous system and can be fatal in children with a few surviving to adulthood; It appears that the ascendants of this group had a very close tribal situation with intermarriages taking place between cousins. The recessive gene is carried on and appears in one in 40 members. There is no known cure.
Among this group also, along with French Canadians descendants, is Tay Sachs disease (also fatal in childhood). It manifests with a build up of substances in the brain and there is no known cure.
My specific interest, however, lay in Thalassemia and Sickle Cell Anemia, which are discussed below.
Every Day in Every Town
There are babies born carrying genetic diseases like spina pifida, cerebral palsy, down's syndrome, and so on. But there are far worse cases that most will never hear about.
Genetic Research - How it is helping
What do You Know About Genetic Diseases? - Have you ever thought about your input
Should we marry partners without being aware of their recessive genes or our own?
Its origin and effect
This disease came to my attention through my interest in genetics in medical anthropology. The first briefing about it was of a small child, probably about six, who entered a back yard shed and was faced with a man who had hanged himself. The shock sent the boy into hemoglobin lock down and he dropped dread. His outward appearance showed every ounce of color drained from his body.
My research was nothing too spectacular but needing to know more led me into many areas of migration patterns and discovering the origin and effect of this disease on communities.
Two particular areas in the Mediterranean Sea, namely Sardinia and Cyprus, were breeding grounds for the recessive gene. Being islands it is understandable that marriages took place within a very confined group which expanded with succeeding generations while descendants carried the recessive gene or one in four died of it. Possibly one in four also carried no trace, according to Mendel's law.
The type of thalassemia in these groups is known as beta-thalassemia (for simplicity sake) while alpha-thalassemia is known among Asian and African races and now in North America. Carriers are usually identified as thalassemia Minor and if they marry another thalassemia minor then one in four of the offspring will be thalassemia Major.
The video below explains what that means. There are tests to see if you are a carrier of this gene and further tests, such as amniocentesis can be carried out on a fetus at 16 weeks to see if the gene is manifested. The procedure is risky and there is a slight chance it may result in a miscarriage.
Thalassemia - Spreading Awareness
How Important is Your Babies Future? - Are you prepared to eliminate the risks?
People in Australia usually get blood tests before marriage to identify blood related problems that might affect a child. So I think genetic testing is just around the corner if such hideous diseases as Thalassemia and other things can be avoided.
Would you ask your potential partner to be tested for genetic risk genes, such as thalassemia?
Amniocentesis Test - Its not all that bad
Sickle Cell Anaemia
What is it?
Closely related to and often identified with other forms of thalassemia this disease is painful and can cause stress over a lifetime. The video below explains the condition and its effect on the body. The picture on the right shows normal red blood cells concave in shape
Generally called beta-globan chain abnormality and also homozygous beta-thalassemia the effect of this disease on the kidneys is possibly the biggest problem. "Speculation exists as to the possible mechanisms responsible for the decline in renal hemodynamics with age, sometimes ending in renal failure with shrunken end-stage kidneys." (cited L.W. Statius van Eps http://eglobalmed.com/core/FreeBooks/www.kidneyatl...
The complexity of the effect of the disease is too involved to repeat in this lens and would only confuse the reader.
Symptoms include shortness of breath, lethargy, rapid heart rate, delayed growth at puberty. ulceration of the lower limbs (adolescents and adults), severe abdominal pains, joint pains, blood in urine, thirst, vomiting, fever, abnormal penis pain, chest pain, decreased fertility, and a family history of the disease. It is most prominent among African Americans of whom one in ten are carriers and some 1 in 400 have it. But it is also in many other nationalities.
Managing ones anxiety and diet may help control the symptoms.
Sickle Cell Disease
How Safe Are Our Genes?
If they can kill
Genetic science is only 20 to 30 years old and there is a lot that we don't know. It took 20 years after the discovery of the double helix for it to have any application in medicine. Yet, we see how genetic engineering is now going ahead in leaps and bounds to create new life forms that have no relationship to any other living thing.
This worries me, in particular, because of my research that shows life evolved along with everything around it. For instance the food we eat has developed as we did, the same climate, the same earth patterns, environmental conditions and time. Now, suddenly, cells are being altered into new entities foreign to all these things.
Ethically we have to look at the process called 'transgene' which means part of one genome is isolated and implanted in that of another. The effects are completely unknown both short and long term. In one example, golden rice, it has extra vitamin A, supposedly to overcome the low amounts of this vitamin in some Asian populations. But these people evolved with that level of it so what will happen long term if they eat this rice variant? Also what about the bit that was removed. We have seen from the videos above what happens when a small amount of a chromosome is distorted and how it affects the body.
If we are going to allow manipulation of our food then surely we must know what are the consequences.
In a recent television documentary, Quantum, that airs on the ABC in Australia it was revealed how eucalyptus trees with modified genes (enabling faster growth) exude extra large amounts of poison into the environment. This poision is a feature of the tree but not in these new quanitites. The result is a devastating effect on river organisms that has resulted in abnormal cancer outbreaks among the human population drinking the water downstream. Animals who use the river for drinking water include the highly endangered Tasmanian devil which is dying in agony from unexplainable cancer growths around its mouth that prevent it from eating.
We don't know the health risks and long term consequences of such interference in nature so what are we allowing it to happen? Maybe all our food is being poisoned by these so-called scientific breakthroughs just as our planet is being pouisoned by pollution from motorised machinery.
Do You Believe that Genetic Manipulation is a Good thing? - Or should we ban it?
Are you prepared to eat genetically modified foods?
A Scientific Evolution
Genes have taken over as the new thing in vogue to experiment with and alter, just as man has altered everything else of nature. So what is waiting for us down the track?
Mad Science or a Medical Breakthrough - Where are we going?
Still images from Dreamstime - click here
Read my articles on this and other subjects on Ezine Articles
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