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Short Overview Of The Genetic Diseases Huntingdon's Chorea And Sickle Cell Anaemia

1108 words - 5 pages

Huntingdon's Chorea1. Genetic Causes:The gene that causes the disease is found at the tip of chromosome-4. It leads todamage to some of the nerve cells in the brain. It is not known what the gene's usual function is and how it causes the disease.The disease is caused by a dominant gene: therefore anyone who has the carrier gene gets the disease; and their offspring have a 50% chance of catching it as well (assuming that only one of the genes is faulty).2. Symptoms:Symptoms generally appear between 30 and 50 years of age, but can appear as young as two and as old as 70. It progresses over a 10 to 25 year period.It causes progressive deterioration of both physical and mental abilities. This is ...view middle of the document...

4. Treatment:Drug therapies can ease the symptoms of the disease but there may be severe side effects with these drugs. There is no cure for Huntington's chorea. However, new techniques involving neural grafting (putting healthy brain cells into areas where they are needed) may offer hope for sufferers in the near future.In the earlier stages of the disease, sufferers largely maintain their independence. However, with it being hard to speak, talk and move in the later stages, care in a home is often needed. Counseling is often required for the dementia often experienced by sufferers.Sickle cell anaemia1. Genetic causes:Sickle cell anaemia affects the red blood cells and their haemoglobin. It is caused by a recessive gene, though anyone who carries the defective gene may still show sickle cell anaemia traits. Whilst they do not share most of the symptoms of the disorder, they must be careful where there is less oxygen: high altitude activities, whilst underwater diving and whilst under general anesthesia. If both copies of the haemoglobin gene carry instructions to make sickle haemoglobin then this will be the only type of haemoglobin they can make and sickled cells can occur. These people have therefore have the disease.2. Symptoms:People with Sickle Cell Anaemia have Sickle haemoglobin which is different from the normal haemoglobin. When sickle haemoglobin gives up its oxygen to the tissues, it sticks together to form long rods inside the red blood cells making these cells rigid and sickle-shaped.Because of their shape, sickled red blood cells can't squeeze through small blood vessels as easily as the donut-shaped normal cells. This can lead to these small blood vessels getting blocked which then stops oxygen from getting through to where it is needed. This in turn can lead to severe pain and damage to organs. Over time Sickle Cell sufferers can experience damage to organs such as liver, kidney, lungs, heart and spleen. Death can be a result.Another problem is that red blood...

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