dna strand

GENETIC

Genetic Disorders

There are several genetic dissorders that have been discovered at present.  These occur as a result of one or two abnormalities in the genetic system of a person.  Some are really very noticeable that they affect the overall functioning in terms of socialization, mental function, appearance, and personality of the person.

There are many kinds of genetic dissorders.  There are some which are heredofamilial or that which is passed on from the parent to the child.  It could be that one parent has the abnormal gene (autosomal dominant).  This could or could not be manifested in the parents but it showed in the children.  It could also be that both parents have the abnormal gene and this combination gave a chance for the abnormality to be manifested in the offspring.  This gene is known as autosomal recessive.  There are also those which only occur in female children (y-linked) and those which occur in males (x-linked). 

Without the tests, it would be hard to identify if there is an abnormal gene present in a person.  However, if one already knows that somebody in the family has the disorder, it might be wise to simply avoid being in a relationship with someone who has the same gene to avoid its appearance in the children later on.  Another option might be to get checked for abnormal genes.
Common genetic dissorders include the following:

  1. Down Syndrome – this condition is commonly referred to as mental retardation and there is an abnormality in the Chromosome 21.  Children born with this disorder have delayed mental capacities and often present with low set ears and a large tongue.  Though their thoughts are delayed, they can still be taught simple tasks as they grow older. 
  2. Haemophilia – this is a disorder where there is an abnormality in the clotting factor IX that predisposes someone to bleeding.  It is a sex-linked disorder which commonly happens in males and less likely to occur in females.  Those with this disorder are advised to avoid getting involved in contact sports where injuries are probable and bleeding can be unstoppable.
  3. Sickle cell disease – common in those with South African descent, this is a genetic abnormality in the blood where instead of being round, the red blood cells become sickle-shaped and because of this sometimes it’s hard for the blood to pass easily through the blood vessels causing anemia and several complications.  The abnormal gene is in the haemoglobin.  
  4. Phenylketonuria (PKU) – this is an autosomal recessive disorder where there is a metabolic problem in the digestion of amino acids.  There is a mutation in the gene responsible for doing this and so with this going on, products like cheese, milk, meat, eggs, fish, and more are prohibited from the diet.  When untreated, this condition could lead to several complications like seizures, mental retardation, and brain damage.
  5. Polycystic Kidney Disease (PKD) – this is a condition where there are multiple cysts found in either or both kidneys.  It can be autosomal recessive or autosomal dominant meaning both or one parent could have the gene.  However, there are instances where mere mutations of the gene can cause the condition to be present.

There are still many other genetic dissorders discovered in today’s time.  But they are uncommon.  If you are suffering from any of these, there are now varied tests and treatments done to help correct or manage such condition.

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