Genetic Disorders

Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.

Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.

You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.

There are three types of genetic disorders:

Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder.
Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example.

Genetic tests on blood and other tissue can identify genetic disorders.

NIH: National Library of Medicine

Symptoms of Genetic Disorders

The following features are indicative of Genetic Disorders:

anemia
episodes of pain
painful swelling of hands and feet
frequent infections
delayed growth
vision problems
small head
short neck
protruding tongue
upward slanting eyes
unusually shaped or small ears
poor muscle tone
excessive flexibility
short height
change in bowel habits
blood in the stool
persistent abdominal discomfort
weakness or fatigue
unexplained weight loss

It is possible that Genetic Disorders shows no physical symptoms and still is present in a patient.

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Common Causes of Genetic Disorders

The following are the most common causes of Genetic Disorders:

DNA mutations
having an extra copy of chromosome 21
mosaic Down syndrome
translocation Down syndrome

Risk Factors for Genetic Disorders

The following factors may increase the likelihood of Genetic Disorders:

family history
advancing maternal age
having had one child with Down syndrome
being carriers of the genetic translocation for Down syndrome
older age
African-American race
personal history of colorectal cancer or polyps
inflammatory intestinal conditions
inherited syndromes
low-fiber and high-fat diet
sedentary lifestyle
being diabetic
obesity
heavy smoking
alcohol consumption
radiation therapy for cancer

Prevention of Genetic Disorders

No, it is not possible to prevent Genetic Disorders.

genetic mutations

Occurrence of Genetic Disorders

Number of Cases

The following are the number of Genetic Disorders cases seen each year worldwide:

Rare between 10K - 50K cases

Common Age Group

Genetic Disorders can occur at any age.

Common Gender

Genetic Disorders can occur in any gender.

Lab Tests and Procedures for Diagnosis of Genetic Disorders

The following lab tests and procedures are used to detect Genetic Disorders:

Blood tests: To check defective form of hemoglobin
Screening tests: To diagnose sickle cell anemia and Down syndrome
Colonoscopy: To view entire colon and rectum to detect problems

Doctor for Diagnosis of Genetic Disorders

Patients should visit the following specialists if they have symptoms of Genetic Disorders:

Pediatrician
Hematologist
Pediatric cardiologist
Pediatric gastroenterologist
Pediatric endocrinologist
Developmental pediatrician
Pediatric neurologist
Pediatric ENT specialist
Pediatric ophthalmologist
Audiologist
Physical therapist
Speech pathologist
Occupational therapist
Genetic counselor

Complications of Genetic Disorders if untreated

Yes, Genetic Disorders causes complications if it is not treated. Below is the list of complications and problems that may arise if Genetic Disorders is left untreated:

heart defects
leukemia
infectious diseases
dementia
sleep apnea
obesity
stroke
acute chest syndrome
pulmonary hypertension
organ damage
blindness
leg ulcers
gallstones
priapism

Procedures for Treatment of Genetic Disorders

The following procedures are used to treat Genetic Disorders:

Blood transfusions: Increases the number of normal red blood cells in circulation, helping to relieve anemia
Bone marrow transplant: Replacing the bone marrow affected by sickle cell anemia with healthy bone marrow from a donor
Physical therapy: Helps in handling daily tasks
Occupational therapy: Helps you with daily living tasks
Speech therapy: Improve speech and aid swallowing
Surgery: To remove polyp completely
Chemotherapy: To kill cancer cells and lowers the risk of cancer recurrence
Radiation therapy: To destroy cancer cells that might remain after surgery

Self-care for Genetic Disorders

The following self-care actions or lifestyle changes may help in the treatment or management of Genetic Disorders:

Take folic acid supplements daily: Helps in making of new red blood cells
Drink plenty of water: Decreases the risk of a sickle cell crisis
Avoid temperature extremes: Exposure to extreme heat or cold can increase the risk of a sickle cell crisis
Exercise regularly: To stay healthy
Get genetic counselling: Helps in understanding your chances of having a child with Down syndrome
Avoid smoking: Lowers the risk of colon cancer
Maintain a healthy weight: Helps in preventing colon cancer

Alternative Medicine for Treatment of Genetic Disorders

The following alternate medicine and therapies are known to help in the treatment or management of Genetic Disorders:

Nutritional supplements: Helps in enhancing cognitive function
Massage therapy: Helps in enhancing cognitive function
Relaxation exercises: Helps in relieving distress

Patient Support for Treatment of Genetic Disorders

The following actions may help Genetic Disorders patients:

Finding someone to talk: Discussing your problems with someone gives you metal relief
Join support groups: Find the way of dealing with disease by talking to the individuals suffering from sickle cell anaemia
Exploring ways to cope with the pain: Helpful in dealing with pain
Expect a bright future: People with down syndrome can live with their families or independently
Keep your close relationships strong: Provides the practical support and helps in dealing with your cancer
Learn enough about genetic disorders: Makes you feel comfortable and helps in making treatment decision

Time for Treatment of Genetic Disorders

While time-period of treatment for each patient may vary, below is the typical time-period for Genetic Disorders to resolve if treated properly under an expert supervision: