Most bad health conditions we probably know are caused by infections, inflammations and trauma. We also probably heard some are actually inherited or passed down by their parents or closed family members. One thing for certain is it is rather unfortunate when it affects a person since they were born and only gets worse while growing up. Luckily, in modern medicine, some of the genetic disorders can be detected in early stages of life and supporting mechanisms or help can be provided early on to help both child and family to cope better.
Gene and chromosome might be a term that seems the same thing in genetics but it is not. Gene is the basic physical and functional unit that makes up the hereditary material called DNA. Chromosomes are structures within the cells that contain the gene. Most cells have 23 pairs of chromosomes with a total of 46 chromosomes. A genetic disorder is caused by problems in chromosomes or genes. It Is estimated that genetic disorders occur in 2-5 % of all live births. The fact that at least 10 percent of adults are presented with genetic defects shows that a genetic disorder is not a rare occurrence. Thus, what are some of the common genetic disorders?
1- Sickle cell disease– It is a red blood cell disorder that affects the haemoglobin which plays part of carrying oxygen to all cells in the body. While healthy red blood cells are round and easily move throughout the blood vessels, the red blood cells in sickle cell disease form a crescent or a sickle-shaped that can easily block the blood flow in the body. This is a lifelong illness associated with stroke, infection and chest pain.
2- Cystic fibrosis-This is a genetic condition leading to a faulty protein which affects the body’s cell and gland production of mucus to build up in the lung and digestive system. The mucus is thick and sticky which leads to blockage, damages, infection or inflammation of the affected organs. People with cystic fibrosis typically have serious breathing problems due to lung infection and are prone to malnutrition due to mucus clogging the pancreatic enzyme aid in digestion.
3- Down syndrome– A condition of a person who has an extra chromosome or often called Trisomy 21 because of the extra copy of chromosome in chromosome 21. People with Down syndrome have typical common physical traits such as a flattened face, a short neck, poor muscle tone, an upward slant to the eye and a single line across the palm of the hand (palmar crease/simian crease), though an individual may or may not possess these characteristics to a certain extent.
4- Osteogenesis imperfecta– Also known as brittle bone disease, is a genetic disease caused by a defect or change in gene that produces collagen. Collagen is needed to make a strong bone. People born with this disease are susceptible to bone fractures due to the low bone density and weak bone. Some of the prominent features in this disease are the white of the eyes appearing bluish or greyish (blue sclerae), formation of teeth problems (dentinogenesis imperfecta), short stature and deafness usually after puberty.
5- Haemophilia– A bleeding disorder caused by deficiency of the blood clotting factors, usually factor VIII and factor IX protein. A person with haemophilia tends to have prolonged and excessive bleeding after a small trauma or injury, sometimes can even bleed spontaneously.
Having a child or loved one with genetic diseases caused by genetic disorders can be quite overwhelming but with proper treatment, management and care from healthcare experts, these disabilities can be overcome and they too can live a long blissful life.