Genes are like codes and carry all characteristics of a person – from skin color to sugar levels to emotional strength. Some diseases run in families and they are transmitted from one generation to the other via genes. These are known as genetic or congenital diseases, and with medical advances, their management has improved by leaps and bounds. A detailed history of parents helps to identify the conditions that could possibly be transmitted to the infant. Identifying the conditions is half the solution, so be it Type 1 diabetes or hemophilia, one can take the necessary steps to manage the problem after birth.
However, there are various genetic diseases that are life-threatening, five of which are listed below. Though they can be identified, we have yet not conquered these fully and they account for 10 out of 1000 deaths.
- Hemophilia: Known as bleeding disorder, this is caused by a lack of clotting factors, which stop bleeding in normal people. There is spontaneous bleeding (often internal) in many people, which can prove fatal. This is common in males and becomes evident within nine months of life after birth. While instances of death were high earlier, the condition is currently managed with prevention measures and lifestyle changes. Supplements of clotting factors are given to help with the blood clot.
- Thalassemia: Thalassemia is the absence of a protein that is essential for the formation of hemoglobin. Hemoglobin is the vehicle in the blood, which carries oxygen to all of the body. This genetic disorder is still seen very commonly in countries like Iran. Genetic testing and early treatment have proven effective in managing this disorder.
- Sickle cell anemia: In addition to anemia which is reduced hemoglobin, people with this genetic condition also have blood cells that are abnormally shaped like a sickle. They have a much shorter lifespan, and as blood supply to most organs is affected, this condition can be fatal. The affected persons suffer from chronic pain and most vital organs are affected, making this condition fatal.
- Cystic fibrosis: This genetic condition affects the respiratory, digestive, and reproductive systems. In cystic fibrosis, there is excessive mucus and fibrous formation seen in these systems, which makes their functioning very difficult. For instance, the elastic lungs becoming fibrous results in a decreased amount of air inhaled and purified and increased difficulty in the flow of air between the lung spaces. If tested for during pregnancy, it can be managed but life expectancy beyond 30 is not very common.
- Fragile X Syndrome: The X chromosome is actually fragile and affects males more than females (1 in 2000 vs.1 in 4000). This is known to be the most common inherited cause for mental impairment and retardation. There is no current cure other than supplemental speech therapy, occupational therapy, and social support.
There are various genetic diseases, and with medical advances, there is a lot of improvement in managing a few and identifying others, but the above 5 are yet to be cured completely.