Autosomal Genetic Disorders: Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop. Inheriting a specific disease, condition, or trait depends on the type of chromosome that is affected. The two types are autosomal chromosomes and sex chromosomes. It also depends on whether the trait is dominant or recessive.

Types of Diseases in Autosomal Genetic Disorders

• Sickle cell disease: About 1 in 12 African-American people are carriers of this disease. One in 500 African-American babies is born with it. Sickle cell causes your red blood cells to be stiff and sticky so they can’t easily move oxygen through your body. This puts you at risk for painful complications and severe infections.
• Phenylketonuria: It is an inborn error of metabolism is also inherited as the autosomal recessive trait. The affected individual lacks an enzyme that converts the amino acid phenylalanine into tyrosine. As a result, this phenylalanine is accumulated and converted into phenyl pyruvic acid and other derivatives. Accumulation of these in brain results in mental retardation.
• Thalassemia: This is a type of disorder in which the body makes an abnormal amount of haemoglobin. As a result, a large number of red blood cells are destroyed that leads to anaemia. It is an autosomal recessive disease. Facial bone deformities, abdominal swelling, dark urine are some of the symptoms of thalassemia.
• Cystic fibrosis (CF): People with this disorder produce very thick mucus that sticks to their lungs and harms major organs. CF also makes it hard for your body to digest and absorb food.
• Tay-Sachs disease: This causes intense damage to the central nervous system. It occurs most often in people whose ancestors are Ashkenazi Jews, French Canadian, Amish, or Cajun.
• Gaucher disease: Many of your organs and tissues can be damaged from this disease. An enlarged liver and spleen, as well as anemia, are common. Some people also have seizures and brain damage. The most severe type causes problems for babies before they’re born or in the days right after birth.

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By Team Learning Mantras