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Inherited disorders are defined as being a genetic problem that might be caused by one or more abnormalities in the genome. In some conditions, genetic mutations are the main cause for such conditions, hence why they are called genetic or inherited disorders. 1
In the below, most common genetic disorders are listed and explained: 2
- Down syndrome: This condition occurs whenever a copy of the 21st chromosome is copied in some or all cells, an extra time. Down syndrome can be identified with very high accuracy through screening tests such as blood tests done during pregnancy.
- After diagnosis, the individual is likely to exhibit different levels of cognitive delays, congenital heart disease, lower muscle tone, small physical stature, and slanting eyes.
- Note that, the older the mother is, the higher the chances of Down syndrome are.
- Thalassemia: This condition limits hemoglobin production, resulting in a lower number than normal, which in turn causes a reduction in oxygen flow throughout the body. It usually leads to severe anemia which may sometimes be treated with blood transfusions. Ethnicity is a very important risk factor.
- Cystic Fibrosis: This is a chronic condition that causes the production of sticky and thick mucus, which results in problems in the reproductive, digestive, and respiratory systems. A patient?s survival period can be extended through physical therapy, along with medical and nutritional supplementation.
- Cell Anemia: This is a condition that is typically passed down by both, mother and father to the child. It causes an alteration of the shape of red blood cells, from normal donut shape to a sickle shape. It results in obstruction of blood vessels, causing complications and sharp pain coming from organ damage, infections, and ARS (acute respiratory syndrome). Ethnicity is a very important risk factor.
Dr. Ziad Hashem
Pediatrician Infectious Disease
