Christmas Offers on Assignments | HAPPY HOLIDAY = 50% OFF

7 Genetic Diseases in Human and Their Symptoms

A genetic disease is caused by an abnormality in an individual’s biological code or genetic makeup. Some genetic disorders are inherited from parents while others are caused due to an acquired mutation in a single or group of genes. Depending on the type of mutations and which strand of DNA got altered, there can be little or no effect, or may profoundly alter the functions of our body system. Although genetic disorders are relatively uncommon, they are a real danger. Take a look at some of the most common genetic diseases:

Cystic Fibrosis

Cystic fibrosis is a genetic disorder that affects our lungs, pancreas, liver, kidneys, and intestine. The patient faces lifelong problem in breathing and sinus infection. Other common symptoms of the disease include retarded growth, clubbing of fingers and toes, fatty stools, and sterility. This disease most often affects the people belonging to Ashkenazi Jews community. And, it occurs only when both parents are infected.

Severe Combined Immunodeficiency Disorder (SCID)

This disease affects the immunity system of the body, and makes it unable to fight off germs. It is believed to be caused by the absence of, or lack of Adenosine Deaminase (ADA), as well as notable defects in T and B cell responses. And, a child suffering from this disease might not survive unless kept in a completely germ-free environment. Luckily, germ cell transplantation can cure the disorder.


It is a rare genetic disorder that causes a child's body to age faster. It affects about 1 child in every 4 million births. Most kids suffering from the disorder do not live for more than 13 years. It is not an inherited disease; rather it is caused due to a single mistake in a certain gene that leads to the production of an abnormal protein called Progerin which causes kids to grow old quickly.


It is an inherited genetic disease that causes the regular destruction of nerve cells in the brain and spinal cord. The child suffering from the disease usually do not live for more than five years, because of a missing enzyme called Hex-A. There is no treatment for the disorder. However, certain drugs have been invented to manage its symptoms.

Sickle Cell Disease

Sickle cell anemia is an inherited disease- a condition in which there is a scarcity of healthy RBC(red blood cell) is the body. Patients have an abnormal hemoglobin molecules called hemoglobin S, which distorts red blood cells into a sickle shape. These irregularly shaped RBCs can get stuck in narrow blood vessels, leading to slow or no flow of blood and oxygen to other parts of the body. Eventually, the victim dies of organ failure.


It’s a group of inherited disorders that affect the clotting mechanism of the blood. Blood has anticoagulant proteins that work together to stop bleeding. The lack of these proteins causes people with haemophilia to bleed for a longer period after injury. Internal bleeding is more dangerous in these patients, and that might lead to impairment of body parts, numbness, or even brain hemorrhage. As per some research studies, the disease affects 1 in every 10,000 people. Medical science has not yet developed any permanent way to cure it, but under regular treatment and use of drugs, a person can lead a healthy lifestyle.


The thalassemia is a group of inherited blood disorders which affect the normal synthesis of hemoglobin by the red blood cells. This results in anemia, where the usual symptoms are fatigue, an enlarged spleen, brittle bones, and shortness of breath. Kids with thalassemia usually have a poor appetite and retarded growth. Other symptoms of the disease include darkened urine, jaundice, and weakness. The treatment for thalassemia depends on the type and severity of disease. Blood transfusions, bone marrow transplant, medications and supplements, possible surgery to remove the spleen or gallbladder are some common medical practices to treat this malady.

These were some most common genetic diseases that attracted public attention and research money. As a student of genetics, you should also read about other such diseases such as Klinefelter syndrome, Phenylketonuria, Turner syndrome, and Acute intermittent porphyria. However, if loads of academic writing projects are not letting you expand your knowledge, then seek assistance from us. We are one of the best genetic assignment help providers in Australia with a client base of hundreds of scholars enrolled in various medical and genetic engineering colleges across the nation.

Price Starts from


FREE Features
  • Topic Creation
    USD 3.87
  • Outline
    USD 9.33
  • Unlimited Revisions
    USD 20.67
  • Editing/Proofreading
    USD 28
  • Formatting
    USD 8
  • Bibliography
    USD 7.33

Get All These Features of



Don't Miss Our Special Offers
IAH AU whatsapp