GENETIC DISORDERS

By Aditi Mahar
IX - B

Genes are the hereditery building block of life. Genetic disorders are conditions that
result from abnormalities in an individual's genes or chromosomes.These disorders have
an adverse effect on the child’s abilities, development and well-being. Understanding
them is important for the guardian, parents or caretaker of the individual affected by
them. Some diseases are caused by mutations that are inherited from the parent. These
are present in the individual’s body since birth but some diseases are caused due to
acquired mutation (A change that occurs in a DNA sequence) in a gene or a group of
genes during a person’s life. These diseases are not inherited but occur due to the
environment one exposes themselves to. There are three different types of genetic
disorders. That is Single-gene disorders (a mutation affects a gene) such as Sickle Cell
anemia (affects the structure of hemoglobin leading to abnormal red blood cells),
Chromosomal disorders (chromosomes are missing or changed) such as such as
Down syndrome (caused due to additional copy of chromosomes 21) and Complex
Disorders (mutation in two or more gene) such as Colon Cancer (main cause is lynch
syndrome). So how does it actually occur? Whenever there’s a mutation in your gene, it
changes the protein-making instructions so the protein does not work properly or is
missing entirely. This may lead to a genetic disorder. Genetic Mutations occur during
Cell division and as we know, there are two types of ways they can divide in: Meiosis
and Mitosis. The symptoms of genetic disorders vary from disease to disease but some
common symptoms may be behavioral changes or disturbances, breathing problems,
cognitive deficits, developmental delays, eating and digestive issues, neurological issues,
vision or hearing loss, limb or facial anomalies and poor growth. Some common genetic
disorders are down syndrome, sickle cell anemia, cancer Cystic fibrosis, Thalassemia,
Huntington’s disease, Hemochromatosis, Alzheimer’s disease, Turner’s syndrome,
Kleinfelter’s syndrome ,Leber’s Hereditary Optic Atrophy, etc. The treatment varies from
disease to disease but some common treatments are medications, therapy (physical,
speech or occupational), blood transfusion, organ transplant, etc. Early Diagnosis of
genetic disorders is essential and requires professional guidance and support.