An Insight into 10 Genetic Diseases

A genetic disease is the one that is caused by the mutation of a single or a number of genes in our body. Any change in the bases of DNA as well as chromosomal abnormalities may result in change of our genetic make-up and the result in some form of disease.

Genetic Diseases

While we inherit some of these diseases from our parents, others may be the result of exposure to potentially dangerous chemicals, environmental pollution, or unhealthy lifestyle. Here is a list of ten genetic diseases that are quite common:


This genetic disease is characterized by the abnormal bleeding and inability of the body to clot the blood after some blood vessel is ruptured. Haemophilia A is due to the absence of factor VIII in blood while type B is caused by the lack of factor IX.

It is a male-dominated hereditary disease in which abnormal genes get transferred from mother to a child. The sufferers of this X chromosomal disease show symptoms that include internal bleeding occurring for prolonged periods. The initial symptoms are manifested in the form of bruises that often bleed. As the clotting factor is missing, such patients may bleed profusely even from simple surgeries or dental procedures.


Tay – Sachs Disease

This rare genetic disease is the result of abnormality of chromosome 15; the patient gets mutated Hexa gene from both his parents; hence the disease is categorized as an autosomal recessive one. The earliest signs that a person suffering from Tay-Sachs exhibits are severe damage of mental as well as physical abilities and finally the death. Usually the signs become evident as a child is about 6 months old. Muscular dystrophy, blindness, deafness, difficulty in swallowing, impairment of cognitive abilities, spasticity, and neurological deterioration are the common symptoms of various forms of the disease.

Tay - Sachs Disease

Sickle Cell Anemia

As the name implies, this autosomal disease is identified by the presence of sickle-shaped RBCs in blood. Due to their constricted shape and size, the normal blood flow through blood vessels is impaired. Common in the people living in tropical regions, this genetic abnormality is caused by hemoglobin S which reduces the oxygen carrying ability of RBCs and they assume crescent shape.

The symptoms may include pain in bones, stunted growth, jaundice, abdominal pain, chest congestion, repetitive urination, and increased heart rate. In acute cases, the hemoglobin level falls below normal levels and the patient may need blood transfusion.

Sickle Cell Anemia

Klinefelter’s Syndrome

Also referred to as XXY syndrome, Klinefelter’s is a rare sex chromosomal disorder caused by the presence of an extra X chromosome. The disease renders the male patients totally or partially infertile. Thy may have weak muscles, larger breasts, difficulty in commutating, lack of confidence, scarcity of facial hair, and difficulty to get along well socially. There is a severe reduction I testosterone productions. The condition makes the patients subjected to more aggressive disorders like breast cancer and tumor.


It is another autosomal recessive disorder that affects the metabolism of phenylalanine amino acid and prevents its conversion into tyrosine. This leads to the gradual accumulation of phenylalanine in body and its presence in urine can be detected. The disease occurs when an enzyme called phenylalanine hydroxylase is unable to function owing to genetic mutation.

Those with this disease have low production of melanin in their bodies, thus attributing to lighter skin pigments. There may be signs of mental retardation, tremors, seizures, and shaking of extremities. Those who do not get treatment on time have the chances of developing bad body odors.


Spina Bifida

Myelomeningocele or Spina Bifida is a birth defect which is characterized by the opened backbone. Instead of fusing of backbone vertebrae from both sides, they remain opened and hence the spinal cord remains exposed. The patients have defective neural tube which results in incomplete formation of spinal cord. Characterized by abnormal bowel movement, weakness and paralysis of leg, sensory inability, clubfoot, and accumulation of fluid in skull, the condition is considered to be caused by the lack of sufficient folic acid in mother’s body

Spina Bifida .

Fragile X

The syndrome is the result of genetic mutations of X chromosome and inability of the body to form a protein required for normal development of nervous system. The condition is the main cause of autism and affects both the physical as well as mental capabilities of a person.

Presence of a big testis, elongated face, bulging eyes, impaired intellectual capability, abnormal movements of extremities, and impaired social development. Some may show hyperactivity, have articulation problems, shyness, and abnormal facial features.

Fragile X

Turner’s Syndrome

The condition arises when the females. Who are the carriers of 2 X chromosomes, have only a single one in all or some of their genes. This chromosomal abnormality is manifested in the form of webbed neck, infertile gonads, lack of periods, short height and broad chest. The girls with Turner Syndrome are susceptible to other chronic conditions like diabetes, heart disorders, hypothyroidism, and defects of eyes and ears.

Cystic Fibrosis

The disease is caused when the gene responsible for the normal secretions of mucus and other juices in body is mutated. It is a recessive genetic disorder. The symptoms that characterize this disorder are formation of fibrosis and cysts in pancreas.

The patients often find it difficult to breathe well. Mucus gets accumulated in lungs and other body parts and gives rise to fatal lung infections, and impaired digestive system. They usually shoe delayed growth, pain in stomach, inability to put on weight, nauseas, coughing, and foul smelling stools.

Cystic Fibrosis

Caravan Syndrome

The disorder is an autosomal recessive one, caused by the mutation of a gene responsible for regulating aspartocylase. The disease affects brain cells and is a degenerative one. The decreased production of myelin that insulates a brain neuron results in Caravan Syndrome. The earliest symptoms become visible during infancy: mental degeneration, difficulty to eat, floppy muscles, large forehead, need of support for basic motor functions such as sitting, walking etc. While some infants may live up to their childhood, others make it till adolescence. There is no treatment for this disorder.