Genetic Diseases


Common genetic diseases

The discovery and the spread of the various genetic diseases have today gained gigantic proportions in the world all around us. Though studies are still on in order to ascertain the causes behind these diseases as well as to deduce some form of cure for them, the pain and suffering which are still caused by the presence of some of these common genetic diseases in the human body remains as before – manifold. Some of the common genetic diseases include:

Cystic Fibrosis

A common form of hereditary genetic disorder, the advent of Cystic Fibrosis in the human body is responsible for pushing the individual to a stage of progressive degeneration, which in turn can cause various disabilities as well as in certain severe cases, death. The disease is caused by a scarring of the pancreas or fibrosis, an act which has given rise to a part of the name which is designated for the disease. It is after this that a cyst is formed in the pancreas, which can give rise to a difficulty in breathing as well other symptoms, which can include:

  • Sinus Infections
  • Poor Growth
  • Diarrhea
  • Infertility

Down syndrome

One of the best known forms of genetic diseases, the Down syndrome has been studied to be caused by an extra 21st chromosome, even when the entire chromosome structure other than this remains intact. The most important feature of this syndrome is that it interferes with the various growth processes of the victim’s mental and physical developments. The Down syndrome is accompanied by a characteristic visual appearance which can easily allow doctors to immediately identify the cause of the disease. Some of the main symptoms which are identified by Down syndrome include:

  • Congenital Heart Defects
  • Gastroesophageal Reflux Disease
  • Recurrent Ear Infections
  • Obstructive Sleep Apnea
  • Various forms of Thyroid Dysfunctions.

Haemophilia

One of the more widely spread forms of the diseases caused by the various kinds of genetic disorders, Haemophilia is a term given to a condition in which various groups of genetic disorders create conditions through which the body loses its ability to process blood coagulation or control or begin the process of the clotting of blood. A form of the X chromosome related genetic disorder; the symptoms of Haemophilia can only be seen in the bodies of the human males.

One of the most common symptoms of Haemophilia is prolonged bleeding or the restarting of bleeding even after it had stopped complete. This can cause serious damages in the cases of those patients who have a history of internal bleeding. The involvement of females in this disease can only be in the forms of carriers as they are never really seen as to be victims suffering from the malady. Some of the symptoms associated with the disease include conditions of:

  • Deep internal bleeding
  • Joint damage
  • Transfusion transmitted infection
  • Poor reactions which can result from the treatment of the clotting factor
  • Intracranial hemorrhage

Sickle-cell disease

A dreaded form of the manifestation of a typical genetic disorder, the Sickle-cell disease is a term that is given to a condition in which the Red Blood Corpuscles or RBCs of the patient’s blood can transform or become mutated to change their shape from the regular shape of their cells to a special sickle shape, which is the cause being the nomenclature used for the malady.

The main resultant factor of the transformation of the blood cells of the human body into the shapes of sickles is that they cause an immense decrease in the flexibility of the cells, which in turn can result in severe major complications and also reduce the immunity of the body’s natural system.

Some of the treatments that are generally suggested as a part of the relief process of the Sickle-cell disease includes:

  • Cyanate
  • Vaso-occlusive treatments
  • Folic acid and penicillin
  • Acute chest crisis
  • Hydroxyurea
  • Bone marrow transplants

Turner syndrome

First discovered in the year 1930, Turner Syndrome is the name given to the medical condition which is specific only to human females. In this condition, the victim in question possesses a genetic structure in which one or many parts of the X chromosome remains absent in the cell formation. There are certain visual signs which can readily indicate the presence of the Turner Syndrome in a victim’s genes. Notable among the various external signs include a marked short stature. Other symptoms include:

  • Small fingernails
  • Horseshoe shaped kidney
  • Low Hairline
  • Poor body development
  • Increased weight
  • Absence of a menstrual cycle
  • Sterility of the reproductive organs.

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