A genetic disorder implies a health condition caused due to anomaly of a genome, present from birth and beyond one’s control. Such disorders may or may not be inheritable; whether they can be passed on from one generation to the next depends upon the specific nature of a gene-based health problem. In the case of non-inheritable genetic disorders, the defect in genetic makeup may be caused by new mutations occurring or changes in the DNA. From the medical perspective, there are no known cures for such genetic disorders, though treatment may help relieve symptoms. Here is a list of the most commonly occurring genetic disorders occurring in human beings.
Hemophilia is rare hereditary genetic disorder that prevents blood from clotting properly. It is a bleeding disorder that disrupts the body’s ability to control blood clotting that is needed when the blood vessels break out. Hemophilia patients bleed for longer time after an injury as compared to other people who do not have the disorder. Smaller cuts do not really pose a problem but deep bleeding inside the body is of a bigger concern. Deep internal bleeding in the ankles or knees can damage the organs, and prove life-threatening. Though there isn’t a proper treatment for this inherited disorder, but with proper care and an active lifestyle, the condition can be improved.
Familial Hypercholesterolemia is an inherited condition that is characterized by extremely high levels of cholesterol (bad) in bloodstream. It is a major factor in emerging diseases concerning a cardiovascular system, which is manifested in the form of ischemic heart disease, hardening of the arterial circulatory system and the occurrence of stroke. The pathological process leading to the emergence of the above diseases is called arteriosclerosis/atherosclerosis, which occurs when cholesterol in our body is in excess, either because of disordered processes of its destruction/construction, either because of its excessive intake through food. It can be treated by entailing some lifestyle and diet changes, along with eliminating the intake of saturated fats.
Sickle Cell Disease (SCD) is an inherited form of anemia – a condition in which there are not enough healthy red blood cells to carry adequate oxygen levels in your body. Normally, red blood cells are flexible and round and move easily through the blood vessels. In sickle cell anemia, the red blood cells become rigid and sticky and are in the form of a sickle or crescent. They can get stuck in small blood vessels, which can slow or block blood flow and oxygen to the body parts. Eventually, a sufferer dies due to organ failure.
This is the most common hereditary kidney disease that is passed down the families as an autosomal dominant trait. Its frequency in the general population is 1 in 1,000. Polycystic kidney disease appears in 4-10% of patients on dialysis. About two-thirds of patients have an elevated pressure as the first symptom. The prevalence of hypertension increases with a decrease in kidney function. Pain in the loins and abdomen are found in half of the patients, usually caused by cystic kidney enlargement. Acute pain may indicate bleeding in the cyst, obstruction (thrombus) or infection (accompanied by a fever). Gross haematuria (blood in urine) is the first symptom of the disease and occurs due to rupture of blood vessels.
A widespread inherited disorder, cystic fibrosis (also called mucoviscidosis) causes a major damage to the lungs and digestive system. The mucus (sputum) that is produced in the lungs of healthy people is much less frequent compared to the dense and sticky sputum of patients suffering from cystic fibrosis. This thick mucus sticks to the lungs, causing blockage of the airways. If mucus stays inside the lungs, it clogs the tiny airways and creates a suitable environment for the growth of micro-organisms (bacterial infection). For this reason, it is very important to clear the airways through physiotherapy. The disorder is not contagious and cannot be transferred from one child to another. At present, there is no cure for cystic fibrosis.
Tay-Sachs disease (also called GM2 gangliosidosis) is a rare inherited autosomal disorder in which gangliosides, products of fat decomposition, build-up in the nerve tissues. Mutations of HEXA genes results in progressive deterioration of nerve cells. At a very early age, most likely in the 6 months of age, children develop paralysis, dementia, blindness and spots on the retina. Such children usually die by the age of 3 or 4. Tay-Sachs disease cannot be treated or cured. Firstly, a child loses the ability to focus on objects and develop an unusually strong motor reaction at the sudden sound stimulus. For example, the child is excessively startled at every sound. At best, they learn to crawl and sit, but cannot walk, and they communicate very little with the environment.
The first case of Marfan syndrome, symptoms, and diagnosis were described in 1896. Marfan syndrome is a genetic disease that affects the connective tissue. Main symptoms of external manifestations are disproportionately long limbs, slender fingers, and very high growth. The disease is characterized by the presence of cardiovascular malformations (violation of the structure of the aorta and damage to heart valves). This disorder mostly affects eyes, lungs, skeletal system and circulatory system. Marfan syndrome can be inherited through the genes of one parent. Another reason for developing the disease is gene mutation due to the accumulation of excessive amounts of growth hormone, the rapid development of the lungs, and thus rapid thus rapid enfeeblement of the aorta, causing Marfan syndrome.
Hereditary spherocytosis is an inherited disorder in which normal red blood cells of discoid shape become spherical. Wrong shaped, stiff red blood cells capture, enlarge and destroy the spleen, which leads to anemia. Anemia is usually mild, but if the infection is developed, it can become severe easily. When the disorder is severe, the patient may develop jaundice occurrence of gallstones. In young adults, this disorder can be replaced with hepatitis. Bone abnormalities could appear, such as tower-shaped skull and an extra fingers and toes. The treatment is usually not necessary, but sometimes severe anemia may require removal of the spleen.
Neurofibromatosis is a genetically inherited disorder that causes tumors to form on nerve tissues. The gene for NF type 1 is located on chromosome 17. That gene is also called a “suppressor,” since it prevents excessive proliferation of cells. In the case of mutation of this gene, its tumor suppressor function is disturbed, leading to the appearance of NF type 1, and uncontrolled growth of numerous cells in the body, particularly of the Schwann cells that participate in the construction of the coating of nerves. Changes caused by this disease affect many organ systems – most commonly the skin, central and peripheral nervous system, bones and soft tissues.
A progressive brain disorder, Huntington’s disease leads to progressive degeneration of nerve cells, thereby resulting in mental decline. This inherited neurodegenerative disorder is incurable and it causes the breakdown of nerve cells of the brain. Huntington’s disease affects a person’s muscle coordination, ability to move and talk, as well as cognitive functions. Apart from this, individuals suffering from the disorder can also experience behavior changes, difficulty in swallowing, and loss of memory. Each child of a parent having Huntington’s disease has a 50% chance of getting disease.
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