Genetic Disorders
Genetic abnormalities or mutations are the root cause of genetic disorders, also referred to as inherited or hereditary disorders. They are passed through the generations from parents to children through DNA, the genetic information that controls all living things. Genetic disorders affect cells, tissues, and organs. They can appear early or later in life. Genetic disorders vary in severity.
Genetic illnesses in India vary by disorder and population. According to the ICMR, 70 million Indians have genetic disorders. India's most common genetic disorders include sickle cell anemia, thalassemia, hemophilia, cystic fibrosis, muscle dystrophy, and Down syndrome, among others. In India, these disorders occur at different rates. Thalassemia is more common in Mediterranean states like Gujarat and Punjab, while sickle cell anemia is more common in Maharashtra.
Types of Genetic Disorders:
The most typical varieties of genetic conditions are:
Single-gene disorders: Abnormalities in a single gene cause single-gene disorders, which can be autosomal dominant, recessive, or X-linked. Single-gene disorders involve cystic fibrosis, sickle cell anemia, and Huntington's disease.
Chromosomal disorders: These are chromosome changes. Chromosomal disorders include Down, Turner, and Klinefelter.
Multifactorial disorders: the combination of environmental and genetic variables causes these. Heart disease, diabetes, and certain types of cancer are all examples of multifactorial diseases.
Mitochondrial disorder: Mutations in the mitochondrial DNA cause mitochondrial disorders. Mitochondria are the energy-producing structures within cells. Mitochondrial disorders include Leigh's syndrome and multiple enzyme loss at a single site (MELAS).
Congenital disorders: These are born with genetic or non-genetic causes. Spina bifida, cleft lip, and heart defects are congenital disorders.
Prenatal disorders: Prenatal DNA and/or environmental factors cause these. Prenatal testing detects defects in the neural tube and chromosomal abnormalities.
Causes of genetic disorders
Genetic disorders have their origins in underlying alterations or mutations in genes. Any one or both of a person's parents can pass on a mutation to their offspring. A single gene mutation can cause some genetic disorders, while chromosomal abnormalities or multiple gene mutations can cause others.
Genetic disorders that run in families are inherited from one generation to the next. Inherited genetic disorders can be classified into three broad categories.
Autosomal dominant disorders: Autosomal dominant disorders are caused by a gene mutation in one out of 22 pairs of autosomes (non-sex chromosomes). The mutated gene has a 50% chance of being passed on.
Autosomal recessive disorders: Mutations in two genes on one of the 22 pairs of autosomes cause autosomal recessive disorders. Each parent passes on a single copy of the mutated gene.
X-linked disorders: X-chromosome gene mutations cause these conditions. X-linked recessive disorders are more common in men because they have one X chromosome.
Sporadic Genetic Disorders: Spontaneous genetic disorders occur. Sporadic genetic disorders result from cell division-induced mutations. They can be found in any cell, including sperm and eggs, and are passed down.
Environmental Factors: Radiation and chemical substances may cause genetic mutations and disorders. Environmental factors contribute less to genetic disorders than genetic factors.
Symptoms of genetic disorders:
Genetic disorders have different symptoms depending on the situation and how they impact one's health. Genetic disorders range from mild to fatal. Common genetic disorder symptoms:
Developmental delays: Genetic disorders can delay motor abilities, language development, and problem-solving.
Intellectual disability: Intellectual or developmental disabilities can be mild to severe, depending on the underlying genetic cause.
Abnormal physical features: Genetic disorders can cause a range of physical abnormalities, such as a cleft lip or palate, abnormal facial features, skeletal abnormalities, or abnormal organ development.
Chronic medical conditions: Cardiovascular disease, kidney disease, and diabetes are just a few examples of chronic conditions that can be brought on by genetic disorders.
Vision or hearing loss: Certain genetic disorders can cause vision or hearing loss, or both.
Immune system problems: Infections and autoimmune diseases are common results of compromised immune systems, which can be caused by several genetic disorders.
Behavioral or psychiatric issues: Mood and anxiety disorders, as well as OCD and phobias, have been linked to specific genetic disorders.
Increased cancer risk: Breast and colon cancer, in particular, have been linked to a variety of inherited disorders.
Complications of Genetic Disorders:
The severity and type of the genetic disorder will determine the potential for complications. Complications from certain genetic disorders may be mild, while those from others may be life-threatening.
Some common complications of genetic disorders include:
Organ damage: Genetic disorders can damage the heart, liver, kidneys, and lungs. Damage can reduce organ function, causing serious health issues.
Intellectual and developmental disabilities: Intellectual and developmental disabilities can affect a person's ability to acquire knowledge, interact with others, and perform daily tasks due to genetic disorders.
Increased risk of infections: Genetic disorders weaken the body's defenses, making people more vulnerable to infections.
Vision and hearing problems: Some genetic disorders can cause serious vision and hearing impairments.
Chronic pain: Chronic pain and discomfort are common symptoms of many genetic disorders and can significantly limit a person's quality of life.
Increased risk of cancer: Cancers like ovarian cancer, breast cancer, and colon cancer may be more common in people with certain genetic disorders.
Cardiovascular problems: The dangers of heart disease, stroke, and hypertension are amplified in people with certain genetic disorders.