P2: Understanding how life factors and events may influence the development of the individual. Genetic predisposition to certain diseases

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P2: Understanding how life factors and events may influence the development of the individual

Life factors

Life factors can be divided into four categories and these are:

  • Genetic factors
  • Biological factors
  • Environmental factors
  • Socio-economic factors
  • Lifestyle factors

Genetic factors

Genetic predisposition to certain diseases

The occurrence of many common diseases of adult life and birth defects have strong genetic elements, because of this a large amount of genes each act in a small way but it is significant to ensure whether the person is going to have the genetic condition.

Scientists have studied identical and non-identical twins to find out whether people have a genetic disposition

Phenylketonuira may be treated by putting the person on a diet which limits how much phenylketonuira is put into their body system.  Testing as early as possible is essential because the symptoms are not present in a new born baby. Screen testing has now been essential for all babies. The diet needs to be started as soon as possible as retardation in the mind may start. There is an argument about how long the diet needs to be in place. This disease affects one in around 11,000 people.

Cystic fibrosis  

Cystic fibrosis affects in person in around 3,000 and around 7,500 people are affected in the UK.

People with this condition have extra mucus in their lungs and they are not able to clear the airways of this extra mucus, they can also have breathing problems, and because of the inability to clear their airways they can develop chest infections as micro-organisms get trapped in the lungs. Physiotherapy is needed every day to clear the mucus of the lungs.

People with cystic fibrosis have to have parents who both carry the cystic fibrosis gene in their DNA, as it is an inherited disease. Carriers of this disease don’t show symptoms of this as they carry one ‘normal’ lung which is why a person with cystic fibrosis have inherited if from both parents as both parents would have one lung with the genes.

Down’s syndrome

Those who have Down’s syndrome tend to have similar physical characteristic like a rounded face but with flat profile, with eyes that slant upwards. Children who have this disease learn slower than other children and will reach milestones such a talking or walking later than other children, and they may not even be able to talk until they are two or three years old. If a person with Down’s syndrome has support and treatment their life expectancy is 60 years old.

 

A person with Down’s syndrome have 47 chromosomes instead of the normal 26 chromosomes, the cell number 21 has been copied three times so instead of having 23 chromosomes the ovum has 24 which is called trisomy. This can happen in any women but the older the woman the more chance of having a child with Down’s syndrome.

Down’s syndrome can be detected before the birth of the baby using a procedure called amniocentesis. Amniocentesis is a procedure which involves taking a sample of the amniotic fluid in the women’s abdomen they get the fluid by putting a needle through the abdomen of the mother and then into the uterus. The fluid contains cells that have been cast off from the baby. The cells are cultured and their chromosomes are then examined.

Of the 600 diseases that are genetic around a third of them can be detected using the amniocentesis method. Even though it may be able to detect many genetic diseases it’s not without a risk, those who have the procedure are of risk of miscarrying the baby. It is usually offered to older women because of their risk of having a child with Down’s syndrome.  Chronic villus sampling is another way of detecting genetic diseases; this takes a sample of the embryonic tissue from the placenta. It can be performed earlier than amniocentesis but this procedure carries more of a miscarriage risk.

Sickle-cell anaemia

Sickle-cell anaemia is inherited and is it where there is an abnormality in the haemoglobin, which is the protein that carries the oxygen and is found in the red blood cells. It is caused when there is an alteration in a DNA base which leaves to the substitution of one of the amino acids that make up haemoglobin. This changes the haemoglobin significantly that makes the red blood cells sickle shaped.

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The sickle cell shaped blood cells are not able to pass through the capillaries easy and so they can get blocked there and make it painful and damaging to the organs as oxygen isn’t able to pass through the capillaries. The blocking of a blood vessel causes an attack known as a crisis. A crisis is likely to occur when the person with sickle cell anaemia also has another illness like a cold. The liver, kidney, lungs, heart and the spleen can all become damaged and cause pain. The red blood cells break up easy resulting in anaemia.

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