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There are hundreds of genetic disorders which result in the strangest and sometimes most horrendous diseases imaginable. Most of us are entirely oblivious to the fact that these genetic disorders even exist or perhaps we know about the disease but had no idea its causes are genetic. Of course, we rarely get to see many disorders in our life time as they may be quite rare but there are many far more common genetic disorders which are very much part of the society we live in.
Whilst we might think that genetic disorders are inherited this is not always the case. Genetic disorders are caused by abnormal changes in specific segments of our DNA or can even be caused by deletions of entire chunks of chromosome or by having extra chromosomes.
So which genetic diseases do you think are the most common? The following are the top 5. Did you think of any of them?
Whilst normal individuals have 46 chromosomes in 23 pairs, a Down syndrome child has 47 chromosomes. We have all seen Down syndrome children and they have very idiosyncratic characteristics that make them immediately identifiable; a flat face, short in height, large necks and a wide nose. Mothers who conceive over the age of 35 are more likely to have a child suffering from Down syndrome. The condition does not run in families although it is chromosomal. There is no need for a DNA test during pregnancy to establish whether the fetus has Down syndrome. An ultrasound is enough.
This condition is the second most common disease and is particular because it manifests itself when the person reaches their 30s and 40s. It is a neurodegenerative genetic disorder falls under the category of Dementia. It affects the brain leading to progressively poorer thinking skills and memory. In the earlier stages, tell-tale signs are an inability to control the movement of one’s legs and arms, face and entire upper body. Unfortunately the disease is hereditary and if you have inherited the gene from one of your parents, the chances of your developing it are very high. There is a DNA test for Huntington’s disease which can tell people whether they carry the gene which causes this disease.
Alzheimer’s is another form of dementia. Alzheimer’s is a genetic disorder that affects the brain. Suffers suffer from progressively poorer cognitive skills. They eventually may become a danger to themselves and others around then as they lose concept danger, space and time. In worst case suffers, movement becomes impaired, inability to chew and swallow and several other symptoms. In the UK alone, there are currently 496,000 sufferers.
You can actually carry out a test for your genetic predisposition to Alzheimer’s disease. Not that you can do much if you have the gene, but if you have the condition in the family, a DNA test for Alzheimer’s can help you have your mind at rest.
Sickle Cell Anemia
Sickle cell anemia affects the shape of the red blood cells making them incapable of properly transporting iron. The name “sickle-cell” refers to the shape assumed by the blood cells in the sufferer of this disease. Whilst normal, healthy red blood cells are very much reminiscent of doughnuts in shape, sickle cell blood cells are sticky, look like a sickle and block blood flow. The sickle cells die sooner than healthy blood cells and the bone marrow is unable to keep the production of red blood cells at a health level. There is a DNA test for the sickle cell gene as well as blood test known as hemoglobin electrophoresis test. The DNA test and the blood test are very accurate with a tiny probability for a false positive result.
Fragile X syndrome
Fragile X syndrome is, as the name suggests, a chromosomal abnormality affecting the X chromosome. The condition affects both males and females but is more common in males. The condition results in mental retardation, very short and erratic attention span and certain physical traits such as large feet and protruding ears. The condition is also sometimes called Martin–Bell syndrome, or Escalante’s syndrome. There is a Fragile X DNA Test or the “FMR1 DNA Test” which can confirm the presence of fragile X. The condition runs in families so the DNA test is carried out in families with a family history of the disease.
Helen White specializes in writing articles about DNA testing, pregnancy, prenatal care and prenatal testing for paternity and regularly contributes to a number of websites. More articles by the author can be found online easyDNA New Zealand.
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