Genetic disorders are generally caused due to genetic abnormalities, like a mutation in the genes or the presence of additional chromosomes in the overall genetic makeup. Genetic abnormalities can easily be identified due to the widespread and deeper penetration of technology in the healthcare sector. Numerous studies are conducted to determine health outcomes from genetic abnormalities.
Genetic disorders are generally inherited from the parents. Genetic problems, though, may also occur due to a change or alteration in a gene or group of genes. Carrying a mutation doesn’t always mean that you’ll end up with a genetic disorder; some act as carriers and transfer the abnormality down the line.
Following are a few genetic disorders that you should know about:
Down Syndrome:
According to the Centers for Disease Control and Prevention (CDC), approximately one in 700 babies born in the United States has Down Syndrome. It is usually caused by the duplication of the 21st chromosome either in all the cells or in a few of them – (the nucleus of a cell contains 23 chromosomal pairs.)
The down syndrome leads to the child having mild to severe cognitive delays, heart defects, low muscle tone, the upward slant of the eyes, and smaller physical stature.
During pregnancy, the mother undergoes detailed prenatal screening tests to determine whether or not the baby shows any symptoms of the down syndrome.
Nurses with a good eye know how important it is to identify these disorders before they have time to develop. Granted that experience can make nurses develop those skills, but education can also play a vital role in helping the nurses identify possible symptoms and warnings. To upskill yourself, especially in a field as tough as nursing, you have to have the right credentials. With online bsn to dnp programs you can ensure that you acquire the skills and certifications you need, while at the same time continuing your practice.
Thalassemia:
Thalassemia is identified as a hereditary genetic conditions that restricts the amount of hemoglobin a person can produce naturally; this results in reduced oxygen flow throughout the body of the person afflicted with the condition.
According to statistical analysis, there is approximately a 25 percent chance that a child who inherits the thalassemia gene from his/her parents, will be born with this genetic defect. People suffering from this defect usually have to go through chelation therapy and must have regular blood transfusions, so they can have somewhat normal oxygen levels.
Fragile X Syndrome:
The Fragile X Syndrome (FXS), also called the Martin Bell Syndrome, is a genetic and hereditary condition that results in the child’s development delays, learning problems, behavioral issues, intellectual disabilities, anxiety, physical abnormalities, and autism spectrum disorder, among many other problems. This is called FXS due to the broken and fragile nature of some part of the X chromosome.
Autistic individuals typically suffer from the fragile X syndrome. Females generally have comparatively milder symptoms than males. FXS is generally not considered a deadly disorder, although, as of now, there is no cure for it. Medication and treatment can help with managing the symptoms.
Klinefelter Syndrome:
Klinefelter syndrome afflicts approximately 1 in every 600 males, however, most people remain unaware about whether they have it or not. Klinefelter syndrome (KS) is a congenital condition where there’s an extra X chromosome present in the male’s genetic code. Instead of having 46 total chromosomes, they have 47.
While some tests can diagnose this disorder before birth, in most cases, however, it is diagnosed later in life. It results in males infertility, hypertension, high cholesterol, tremors, osteoporosis, Gynecomastia, and type 2 diabetes.
Tay-Sachs Disease:
Normally the nucleus of an individual cell has 23 pairs of chromosomes, but Tay-Sachs disease occurs as a result of flaw or mutation found in the HEXA gene. The disorder is irreversibly fatal if a child is diagnosed with it.
According to recent statistics, 1 in every 250 people suffer from Tay-Sachs. It has detrimental effects on the nervous system and in most cases, the child dies by the age of five. Adults who suffer from this disorder suffer from diminished cognitive ability.
Tay-Sachs can be diagnosed by using the enzyme assay method or other DNA studies. It is better to go for preventive measures when it comes to this disorder and a large number of mothers go for IV just to be sure that the embryo is not prone to Tay-Sachs and then healthy embryos are implanted into the mother.
Turner’s Syndrome:
Turner Syndrome (TS), also called congenital ovarian hypoplasia syndrome, is a hereditary disorder. It affects only the females. It occurs when one of the sex chromosomes, the X chromosome, is either completely missing or partially present.
It restricts full development or delays it, especially the development of the memory and cognitive functions. These patients are typically prone to heart problems and have a somewhat short life expectancy. Treatment for Turner syndrome involves hormone therapy.
Cystic Fibrosis:
Approximately, 30,000 people suffer from Cystic Fibrosis in the United States. Cystic Fibrosis is in itself a chronic, genetic condition that results in patients producing thick and sticky mucus.
This hinders their respiratory, reproductive, and digestive systems. The condition also results in them developing more health problems. For example, greater than 90% of males suffering from Cystic Fibrosis are sterile.
The average age for these patients is 33.4 years and this disorder has an inheritance rate of 25 percent if both parents carry the Cystic Fibrosis gene. Physical therapy, medical supplements, and dietary regulations might increase the survival time of the patient if he/she is monitored properly.
Hemochromatosis:
Hemochromatosis, also called iron overload, is a genetic condition in which the body stores too much iron. The large amount of iron stored is extremely detrimental to the heart, pancreas, and liver. This disease cannot be prevented, however, early diagnosis and treatment can avoid and sometimes even reverse organ damage to a great degree.
Bottom Line:
Genetic testing is a surefire way of determining if you or someone you love is suffering from a genetic disorder. You should consult an experienced professional who can guide you and make the road to recovery easier. Moreover, you should also go to support groups and learn from people with experience in handling these disorders.
