Genetic diseases are among the most prominent health challenges facing individuals and families around the world, as they result from defects in genes that are transmitted from one generation to another, and may appear from birth or in later stages of life. These diseases vary between those that affect the blood, such as sickle cell anemia, and those that affect metabolism, such as phenylketonuria, or vital organs, such as cystic fibrosis.
In this report, we highlight the most common genetic diseases, and how they can be diagnosed and treated using modern medical methods that enable patients to coexist and improve their quality of life.
The most common genetic diseases
Sickle cell anemia
Sickle cell anemia is considered a hereditary disease, and the individual inherits the disease gene from the mother and father, which leads to a defect in the red blood cells, so they become sickle-shaped or crescent-shaped, which makes them unable to carry oxygen, in addition to their accumulation on top of each other, which leads to blockages in the blood vessels, which causes organ damage and anemia.
Diarrhea disease
It is a hereditary disease that occurs due to the inheritance of a gene carried on the
Hemorrhoids cause red blood cells to break down faster than the normal rate and are associated with several symptoms, including: yellowing of the skin and eyes, fever, shortness of breath, dizziness and lack of balance, and an increase in heart rates.
Cystic fibrosis
It is one of the most common genetic diseases and results from a mutation in the gene responsible for regulating the movement of salt into or out of cells, which leads to the formation of thick mucus in the digestive and respiratory systems.
Hereditary hemochromatosis
It is a hereditary disease characterized by excessive absorption of iron from food, which leads to an increase in iron stores in the body. It also leads to the deposition of excess iron in vital organs such as: the liver, kidneys, and heart, which affects their ability to perform their functions properly.
Phenylketonuria disease
It is a recessive genetic disease that occurs due to a mutation in a gene called PAH, which is responsible for making an enzyme called phenyl hydroxylase. This enzyme converts the amino acid phenyl into other compounds in the body, which accumulates in the brain and causes damage.
How are genetic diseases diagnosed?
This is done through genetic tests that can be performed to detect or prevent genetic diseases and can include:
Genetic examination of the fetus: It helps detect changes occurring in the genes or chromosomes of the fetus before its birth, as a tissue sample is obtained for testing through amniocentesis or sampling of chorionic villi.
Newborn screening: It is one of the important tests that helps in early detection of the presence of any genetic disease in the child and rapid intervention to prevent the appearance of symptoms or reduce the severity of the disease.
Screening a pregnant woman for a hereditary disease: It is one of the very important tests performed by those about to get married, especially for individuals who have a family history of a recessive genetic disorder such as: sickle cell anemia or cystic fibrosis.
Treating and dealing with genetic diseases
Treatment varies based on the type of disease afflicting the individual, and treatment options can vary between medications, blood transfusions, marrow transplantation, and gene therapy. It is necessary to know that some genetic diseases are not treatable, but the treatments provided will help alleviate the symptoms, limit the occurrence of any complications, and help the individual adapt and live with his disease.
