Have you ever wondered why do we resemble to our parents or grandparents? It is because we inherit those facial features from them. Genes are passed on through DNA in the sperm and ovum. DNA is responsible for making various proteins in our body. Sometimes, changes in the genes due to mutation, hence the protein is not able to function properly resulting in genetic disorders. These disorders are passed on from the parents to their child. Genetic disorders can be of three types ie. Single gene, chromosomal and complex disorders.
As the name suggests, single gene disorders are the ones where one gene is mutated like in sickle cell anaemia. Chromosomal mutation occurs on X and Y gene, just like in case of down's syndrome. There are complex mutations too, they can occur abruptly but our lifestyle and environment plays a major role in mutation of genes resulting in diseases like colon cancer. There are various prenatal screenings for some of these diseases but they are not always accurate. Onlymyhealth editorial team spoke to Dr. Seema Dhir, Senior Consultant, Internal Medicine, Artemis Hospitals, about the common genetic disorders.
Common genetic disorders and their treatment
According to Dr. Seema, here are some common genetic disorders and their treatment:
Thalassemia is inherited disorder in the oxygen carrying capacity of blood is reduced, because of less production of haemoglobin. Such patients show anaemia like symptoms like pale skin, weakness. Symptoms depend on the severity and type of thalassemia. Children suffering from thalassemia may also slow body growth and other symptoms in early age. In some cases, good diet might be enough but in certain cases treatment is necessary, though there is no fool proof treatment, good diet and transfusions might improve your health. Such patients are advised to eat iron deficit diet, because it can accumulate in the body.
2. Cystic Fibrosis
It is also a genetic disorder, it is distinguished by buildup of thick mucus which can damage organs. Mucus is normally produced in our body to moisten the inner linings, especially in digestive and respiratory lining, but over production and stickiness blocks the passage and damages the internal tissues giving rise to various infections. This is considered to be a fatal disease because it can block vital organs like pancreas and intestines, but with improved treatment. This disease can be predetermined using prenatal screening.
3. Turner's syndrome
It is a chromosomal disorder, it is present on X chromosome and affects only women. Most of the pregnancies where the foetus is suffering from Turner's syndrome, do not complete their term. Women suffering from this disease are infertile even when womb and vagina is completely normal, just the ovaries are dysfunctional. Such women are short in height, some of them also develop deformities in their spine. They also develop webbed neck and wider chests.
4. Sickle cell anemia
Sickle cell anemia is another genetic disorder which impacts red blood cells, they become sickle shaped and loose their ability to carry oxygen. These red blood break down easily and get stuck in finer blood vessels. Patient suffering from this disorder also faces anaemia like symptoms, weakness and dizziness. It is usually diagnosed in baby after 2-4 months. As the symptoms become severe it can result in swelling of body parts. Transfusions and painkillers might help you get relief, but it cannot be cured.
Cancer is a common disease caused due to mutation in body, due to exposure to carcinogens but some types of cancers can also be hereditary. It happens because sometimes these mutations are passed on to the next generation. Some cancers that can possibly be inherited are prostate cancer, breast cancer, ovarian cancers and colon cancers. Cancer's treatment depends on which stage the cancer is, there are successful treatments for most of the cancers if it is diagnosed at early stages. It can be treated by chemotherapy and gene therapy.
6. Huntington's disease
Patients suffering from Huntington's disease suffer from rapid nervous breakdown, this usually shows it's first symptoms in early 30’s and 40’s. It is a very rare autosomal dominant genetic disorder, it means that the mutation occurs on a single gene and it is expressive even if there is just one copy of it. This disorder usually hinders the motor and psychological abilities. A person might experience involuntary jerks in limbs, problem in swallowing and speaking. This disease is not curable, medications can only slow down the process of nervous breakdown.
7. Down's syndrome
Down's syndrome is characterised by distinctive facial features like big displaced tongue and open mouth, flat face and almond shaped eyes tilted upward from the outer ends, loose skin on the back of the neck. Patients suffering from this disease are also intellectually disabled, retarded growth and short stature. This disorder occurs when there is an extra copy of of chromosome 21 due to improper cell division. More the genetic matter more severe are the symptoms. In most cases these children suffer from chronic heart and thyroid disorders.
8. Werner's syndrome
Werner's syndrome is characterised by premature ageing. This disorder usually emerges during mid thirties but in some cases it can also be expressive in children as young as 10 years. First signs are wrinkling of skin, cataract in both eyes, infertility. Patients suffering from this syndrome are also at high risk of cancer. They are chances that they experience premature greying and thinning of hair. Such patients are also prone to a number of other diseases like type 2 diabetes, osteoporosis and atherosclerosis- blocked arteries. Such patients have a low life expectancy of 45 years.
Genetic diseases cannot be avoided once they are passed on. To prevent these diseases, one should definitely go for genetic counselling before conceiving a baby. It helps you to identify genetic risk factors, and if the experts suggest that your baby is at high risk you can go for all kinds of medical check ups and plan your baby accordingly.
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