Genetic Disorder
The building blocks of heredity are genes. These genes are transferred to the child from parents. The genes hold the instructions, called DNA for making proteins. Most work in the cell is done by the proteins. They build the structures, move the molecules from one place to the other place, break the toxins and perform many maintenance jobs. It is a disease which is caused due to the abnormality in the DNA. These abnormalities can be small or can involve subtraction or addition of the entire chromosomes. It runs in the families and occurs in the all ethnic groups. Few of which are more common in some population than others.
Sometimes a mutation takes place in genes or a gene. When the protein is entirely missed or does not properly work, this is because the instructions in the gene are changed by the mutation for making proteins. As a result, a medical condition is caused known as the genetic disorder. Gene mutation can be inherited from both or only one parent. The mutation can occur during the lifetime as well. A Genetic disorder can be identified by taking genetic tests in the tissues and blood. Genetic orders are of three types:
· Single-gene Disorder: Only one gene is affected by the mutation. An example of the single-gene disorder is sickle cell anemia. It includes:
Dominant diseases: this occurs when there are one healthy copy and one altered copy of the relevant genes e.g. Huntington’s disease.
Recessive diseases: this occurs when the relevant gene has two changed versions e.g. cystic fibrosis.
X-linked disorders: it occurs when an altered gene is present on the X chromosome. It is common in males than females because they have only one X chromosome. As a result, for the symptoms to happen, male need only one altered copy of the gene.
· Chromosomal disorders: in this type of disorder, chromosomes or some parts of it are changed or missed. Structures which hold genes are chromosomes. An example of the chromosomal disorder is Down syndrome which occurs as a result of additional chromosomes.
· Complex disorders: when the mutation takes place in two or more than two genes. It is also known as multifactorial disorders. It often occurs due to the environment and lifestyle of humans such as smoking cigarette or diet. An example of the complex disorder is colon cancer.
Some approaches are available to manage or treat the few associated symptoms or signs. For the treatment of inborn metabolism or errors, the particular enzyme is replaced or dietary changes which include the limitation of the certain substances. Heart transplant or surgery is used to treat and manage the disorder related to the defected heart. The treatment of bone marrow transplant is used for the sickle cell disease. Management of genetic disorder like breast cancer includes the removal of tissues by regular cancer screening or prophylactic surgery. This is done to prevent the tissues from becoming cancerous.
Several incompatible health problems in life are caused due to the genetic disorders. The miscarriage of an affected fetus or embryo is one example of most severe cases. In some cases, the infants having genetic disorders die shortly after the birth or can be stillborn. For these critical cases, health professional provides few treatments like mechanical breathing assistance, pain relief to the affected individual.
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