DNA is the defining units of the human body. They dictate how the entire body will function. Though it’s a compact chemical structure, smaller than a tip of a pin, the entire power of life is centered in it. Even a minor abnormality at a single point leads to catastrophic disease. The only thing our children’s inherit from us are these pieces of DNA. Let us find out more about some of these diseases which are hereditarily transferable.
1. Sickle cell anemia
This disease is caused by a mutation in the beta globin chain of the hemoglobin. It affects the Red blood cells, where the disc-like circular shape of the RBC changes to sickle-like shape. Both the parents have to be a carrier of the disease for the child to have it. It leads to swollen hands, anemia, and stroke. Vaccination, antibiotics and blood transfusion are some of its cure.
2. Tay-Sachs disease
This is an autosomal recessive disorder. Even If both the parents are not affected by the disease but are the carrier of the same, there’s a one by fourth chance that the disease will be expressed in the child. This disease was prevalent in the Ashkenazi Jewish population. The nervous system of the body is impaired, affecting the brain and the spinal cord. Parental DNA testing can help in avoiding the disease by selecting right mate.
3. Cystic fibrosis
Deletion of some nucleotide in the DNA leads to the elimination of a vital amino acid formation phenylalanine. Parents before conceiving their child can always get tested for CFTR gene mutations, the risk involved for their child. There is no permanent cure. The major symptom is, it greatly affects the lungs leading to breathing difficulty and other endocrine problems.
4. Huntington’s disease
It’s an inherited disease and deadliest of its type. Since it’s an inherited dominant disease, even if the child inherits a single affected gene from an affected parent, the disease will be expressed. It directly affects the brain cells and doesn’t have a permanent cure. But proper therapy and rehabilitation to help with the restoring of the cognitive skills.
5. Hemophilia
This disease is transmitted from affected females to sons. The body loses the property to clot in situations of bleeding. Thus resulting in nonstop bleeding in cases of minor cuts. This disease is famously called as a royal disease as Queen Victoria’s lineage had a high number of descendants suffering from this disease. The treatment is taking doses of blood clotting factors.
Today DNA analysis is no more confined in the courtroom, required to prove a verdict. This analysis has become a household happening. DNA analysis kits have brought the technology to our fingertips. All along we are aware as for how a piece of nail or a thread of hair can lead the investing team to the culprit. Now with the same technology readily available, a mere swab of saliva is enough to perform the test. These test along with enzyme assay if utilized in the right way can always help us in understanding the disease. Better be safe than sorry.