Genetic Disorders

What Are Genetic Disorders?

Genetic disorders are diseases caused by changes or mutations in the DNA—the instructions that tell the body how to grow, function, and repair itself. These changes can affect one gene, multiple genes, or entire chromosomes and may be inherited from parents or occur spontaneously.

Some genetic conditions are present at birth (congenital), while others may appear later in life.

Types of Genetic Disorders

Genetic disorders can be grouped into the following categories:

Single-Gene Disorders

Caused by mutations in one specific gene.

Examples:

• Cystic Fibrosis – affects lungs and digestive system
• Sickle Cell Anemia – affects red blood cells
• Thalassemia – causes anemia due to faulty hemoglobin
• Hemophilia – blood doesn’t clot properly
• Duchenne Muscular Dystrophy – causes progressive muscle weakness

Chromosomal Disorders

Involve abnormalities in chromosome number or structure.

Examples:

• Down Syndrome (Trisomy 21) – extra copy of chromosome 21
• Turner Syndrome – missing or incomplete X chromosome in females
• Klinefelter Syndrome – extra X chromosome in males (XXY)
• Cri-du-chat Syndrome – deletion on chromosome 5

Multifactorial Disorders

Caused by a combination of genetic and environmental factors.

Examples:

• Type 2 Diabetes
• Heart disease
• Cancers (e.g., breast, colon) with genetic predisposition
• Cleft lip and palate
• Neural tube defects

Mitochondrial Disorders

Caused by mutations in the DNA of mitochondria (energy-producing structures in cells).

Examples:

• Leber’s Hereditary Optic Neuropathy (LHON)
• MELAS Syndrome (Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like episodes)

How Are Genetic Disorders Inherited?

Genetic disorders may be:

• Autosomal dominant – Only one copy of the mutated gene is needed (e.g., Huntington’s disease)
• Autosomal recessive – Both copies must be mutated (e.g., cystic fibrosis, thalassemia)
• X-linked – Passed through the X chromosome (e.g., hemophilia)
• De novo (new mutations) – Not inherited, but occur spontaneously

Family history plays an important role in understanding the risk of inherited conditions.

Symptoms

Symptoms vary greatly depending on the disorder but may include:

• Developmental delays or intellectual disability
• Growth abnormalities
• Physical deformities
• Frequent infections
• Fatigue or weakness
• Difficulty breathing or feeding (in infants)
• Organ dysfunction (heart, liver, kidneys, etc.)

Some disorders are mild and manageable, while others can be severe or life-threatening.

Diagnosis

Prenatal Testing

• Ultrasound for structural abnormalities
• Non-Invasive Prenatal Testing (NIPT)
• Chorionic Villus Sampling (CVS) or Amniocentesis

Newborn Screening

Performed shortly after birth to detect treatable genetic/metabolic disorders.

Genetic Testing

• Karyotyping (to analyze chromosomes)
• Molecular testing (for specific gene mutations)
• Whole exome or genome sequencing (in complex or undiagnosed cases)

Family History and Genetic Counseling

To assess risk and guide testing decisions.

Treatment and Management

While most genetic disorders cannot be cured, many can be managed with early intervention and supportive care.

Treatment may include:

• Medications (e.g., enzyme replacement therapy)
• Gene therapy (emerging for some conditions)
• Surgical correction (e.g., heart defects, cleft palate)
• Physical, occupational, or speech therapy
• Specialized nutrition plans
• Blood transfusions or bone marrow transplant (e.g., in thalassemia)
• Ongoing monitoring and preventive care

Multidisciplinary care involving pediatricians, geneticists, neurologists, therapists, and counselors is often essential.

Living with Genetic Disorders

With advancements in genetic research, early diagnosis, and targeted treatments, many individuals with genetic disorders live long, fulfilling lives. Emotional support, education, and access to resources are crucial for patients and families.

Genetic counseling helps individuals understand the implications of a diagnosis, assess risk in future pregnancies, and make informed decisions.

Why Choose Aster Hospitals for Genetic Care?

Aster Hospitals provides specialized, compassionate care for children and adults with genetic disorders through a dedicated team of clinical geneticists, counselors, and multidisciplinary specialists. We offer comprehensive genetic testing and diagnostics, along with prenatal and newborn screening programs to enable early detection and intervention. Our expertise spans the management of rare, inherited, and complex genetic conditions, ensuring tailored, long-term care plans. Family counseling and education are integral to our approach, empowering families to navigate each step with confidence. By collaborating with pediatric and adult specialists, Aster ensures holistic, innovative, and patient-centered treatment in the evolving field of genetic medicine