Genetic Disorders And Their Symptoms

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A gene is the unit of heredity, which helps in the transfer of characteristics from parents to their child. Gregor Johann Mendel is known as the father of genetics. He spent seven years conducting experiments on the pea plant. Finally, he postulated three laws of heredity – The law of dominance, the law of independent assortment, and the law of segregation. He founded the modern science of genetics. A genetic disorder is a condition in which the DNA features some changes in its structure. Genetic disorders are transmitted to the offspring from the parents. Genetic diseases are transferred from a single parent and from both the parents too. Let’s discuss some common genetic diseases along with their symptoms.

Genetic Disorders And Their Symptoms
Genetic Disorders And Their Symptoms

Startups Working On Cures For Genetic Disorders

With increasing technology, medical startups keep showing up which comes with the ailment of genetic diseases. Some genetics diseases are incurable and can last forever. There are various startups that work on genetic diseases, and some of them are mentioned below.

  • Arrowhead
  • Alnylam
  • Avexis
  • Askbio
  • Pluristem
  • Bluerock therapeutics
  • Passage bio
  • Editas medicine
  • Auto lus

These were some of the most renowned genetic therapy companies and startups.

Some Genetic Disorders Along With Their Symptoms

Given below are some genetic diseases along with their symptoms.

Genetic Disorders And Their Symptoms
Genetic Disorders And Their Symptoms

Down Syndrome

We know that there are 23 pairs in each cell of humans. In the Down syndrome, there is an extra 21st pair of chromosomes in the nucleus of the cell of humans. In this condition, the extra pair of the chromosome is either present in some of the cells of all the cells.

Symptoms Of Down Syndrome

  • Poor muscle tone.
  • Small ears, head, and mouth.
  • The occurrence of Brushfield spots.
  • Short neck with extra skin.


In this condition, the production of the hemoglobin in the blood is limited. Hemoglobin is present in red blood cells and is used to carry oxygen to all the parts of the body. With this genetic disorder, red blood cells get destroyed, and the supply of oxygen is restrained.

Symptoms Of Thalassemia

  • Fatigues
  • Yellowish color of the skin.
  • Slow growth
  • Swelling in the abdominal region.
  • The dark color of urine.

Sickle-Cell Anemia

Sickle Cell Anemia is the genetic condition in which red blood cells take the shape of the sickle. Red blood cells have a donut shape, but due to this condition, their shape changes to that of the sickle. 

Symptoms Of Sickle Cell Anemia

  • Weakness
  • Anemia
  • Pain 
  • Bacterial infection
  • Blood in spleen
  • Leg ulcer
  • Heart dysfunction
  • Eye damage
  • Bone infracts


Blood clotting is necessary to stop the flow of blood from the injury. Clotting takes place automatically in case of injury. Haemophilia is the condition that prevents blood clotting. 

Symptoms Of Hemophilia

  • Blood in urine and stool.
  • Bruises.
  • Excessive bleeding.
  • Joint pain.
  • Tight joints
  • Nosebleeds are frequent.

Cystic Fibrosis

Cystic fibrosis damages the lungs and digestive system of the body. In this condition, the body produces thick and sticky mucus that clogs the lungs. It can also disturb the pancreas. This condition can also cause death.

Symptoms Of Cystic Fibrosis

  • Chronic cough; blood can be seen while coughing.
  • Bulky stools.
  • Diarrhea
  • Heartburn
  • Shortness of breath
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