Autosomal Recessive Disease: Causes, Symptoms And Types

Autosomal recessive diseases can cause many severe complications, know cause and types of this disease.
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Autosomal Recessive Disease: Causes, Symptoms And Types


Diseases or health problems are not only transferred through infections and inflammation, but also through your genes. There are some disorders that you already have it in your genes and you get it from either of your parents. These types of disorders or problems cannot be treated because they are naturally present in your body. It does not harm health of the host as such but it can create obstacle and problems in daily activities that may lead him to other health complications Autosomal recessive disease is also one of the genetic disorders that occurs in a child from birth because of genetic mutations. Different types of Autosomal recessive disease have varied affects on your body. Let us know about each condition in detail.

What Causes Autosomal Recessive Disease?

We consulted an expert to understand about these types of genetic disorders, Dr. Anuradha Ghosh, Senior Haematologist and consultant in Vozart Healthcare Hospital, Bangalore. Sickle cell disease and cystic fibrosis are also types of Autosomal recessive diseases. These diseases are passed on from your parents. However you can only have this disease if both your parents have mutated genes that are passed on to the child. 

recessive_gene

Doctor explains that almost every cell contains 23 chromosomes that bind your DNA. The child gets these chromosomes either from their father or mother. One pair of chromosome is sufficient to decide your sex whereas others are involved in deciding other traits of your body such as hairs, eyes, colour, and risk of getting other problems. 

Some genes are dominant that may just require one gene from your parent to have a trait of that sort. Autosomal recessive genes are usually associated to cause disease, and you become a carrier of it. People carrying these genes do not have any symptoms and thus many children go unnoticed until it becomes evident in the adult stages. If both partners have the same mutated genes then there are 25% chances that your child may be born with one of severe genetic disorders

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Types of Autosomal Recessive Disease

Here are some common types of Autosomal recessive disorders that may affect people-

1. Sickle cell disease

This is a severe blood disease in which the sickle cells causes your red blood cells to become stiff and sticky. As the result of this disease it makes difficult for oxygen to travel in the blood and cause different problems. You may get attack, stroke and other health complications because of sickle cell disease. This disease is more common in African-American people. 

Symptoms-

  • Episodes of pain
  • Vision problems
  • Delayed puberty or growth
  • Swelling in hands and feet
  • Anemia
  • Getting infections frequently

sickle_cell_disease

2. Cystic Fibrosis

This is a lung disease that causes the mucus to become very thick. It obstructs path of the lungs and causes breathing difficulty in people. This mucus sticks of the lungs and harms major organs present in the body. Cystic fibrosis makes it difficult to digest food and absorb in the body. You may have serious complications because of this disease. Here are symptoms you should remain aware of-

  • Wheezing
  • Persistent cough with thick mucus
  • Repeated lung infections
  • Inflammation in nasal passage
  • Stuffy nose

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3. Tay- Sachs disease

This is diseases that affect your central nervous system. Autosomal recessive disease of this kind is very rare but it can be very intense and dangerous to your health. People who have this disease can get severe symptoms such as-

  • Cherry red spots in eyes
  • Loss of motor skills
  • Muscle weakness
  • Movement issues
  • Vision loss or blindness
  • Hearing loss
  • Seizures

cystic_fibrosis_in_lung_passage

4. Gaucher Disease

It is one of the diseases that can cause organs and tissues to become damaged from the disease. It affects liver and spleen problems, they becomes enlarged and also results to anemia. People having gaucher disease have problems such as seizures and brain damage that can have a life-long affect on children. The symptoms of gaucher disease are not evident, some of them can be-

  • Enlarged speen
  • Bruising
  • Lung problems
  • Extreme tiredness
  • Yellow spots on eyes

Picture Credits- Shutterstock.com, cdc.gov.in

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