List Of Some Genetic Disorder

According to research, a large number of children each year are born with a genetic disorder. A genetic disorder is the disorders that are transmitted from one generation to another.

Genes are hereditary material, also known as DNA controls the various physical appearance and many processes in the body. Any problems with genes could lead to the development of a genetic disorder.  

1. Down syndrome

Down syndrome is one of the common genetic disorder and is one of the most leading causes of causing intellectual disability. Down syndrome is characterized by various cognitive disabilities which can have a significant impact on the development of a baby. Apart from cognitive disabilities, down syndrome is also accompanied by heart defects and intellectual disability. People suffering from down syndrome experience a variety of physical characteristics such as a small chin, slanted eye, poor muscle tone, a flat nasal bridge, and a single crease of the palm.

The presence of an extra copy of chromosome 21 is the primary cause of the down syndrome. Generally, each nucleus in the body contains 23 pairs of chromosomes, half of which are inherited from each parent. But, when a baby suffers from down syndrome, the cells contain 47 chromosomes instead of 46 chromosomes and this extra chromosome is known as the 21st. This excess genetic material in the form of an additional gene results in the development of the down syndrome.

This error in the cell division is known as nondisjunction and it leads to an embryo to form three copies of chromosome 21. There are different types of down syndrome and this type of down syndrome is known as trisomy 21.

2. Hemophilia

Hemophilia is a rare type of genetic disorder. It is defined as an X linked congenital bleeding disorder which occurs due to deficiency of various coagulation factors. Hemophilia is often accompanied by a wide range of symptoms such as pain and tenderness in the joints, blood in urine, unexplained bleeding from cuts and injuries, sleepiness, problems with vision, and headache.

Hemophilia is of two types:

  • Hemophilia A - It is the common type of hemophilia and accounts for almost 85% of all cases. It occurs due to deficiency or dysfunction of FXIII. Most of the cases that are caused by a variety of mutations in the gene coding for FXIII leads to a spectrum of diseases. Rest of the cases occurs due to a flip flop inversion in the FVIII genes which leads to misreading of a non coding region.
  • Hemophilia B - It is also known as Christmas disease and it is not a common type of hemophilia. This type of hemophilia occurs due to the deficiency or dysfunction of FIX.

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Hemophilia is a serious type of genetic disorder which is associated with various complications such as damage to joints, increased risk of infections, clotting, and many more.

3. Huntington’s disease

Huntington’s disease is a neurodegenerative disorder which occurs due to an expansion of a repeating CAG triplet series on chromosome 4. Huntington’s disease results from a single defective gene on chromosome 4. Huntington’s disease indicates the break down of nerve cells in the brain. The symptoms of Huntington's disease occur primarily in three groups - movement disorder, behavioral disorder, and cognitive disorder.

This disease typically begins between the ages of 30 and 50. Some of the common symptoms that occur in patients having Huntington's disease include problems with balance, difficulty in swallowing, problems with emotions, and personality changes.

Damage to any region of the brain could be responsible for behavioral changes. In patients having Huntington's disease the part of the brain that is most affected is the group of nerve cells located at the base of the brain, known as basal ganglia. Basal ganglia are the most damaged part of the brain in patients having this disease, other parts of the brain are also affected.

Huntington’s disease is inherited. Patient having this disease inherit sets of genes from parents. If only one parent have abnormal gene then the risk of developing Huntington's disease is 50%.

4. Duchenne muscular dystrophy

Duchenne muscular dystrophy is an inherited neuromuscular disease which is caused due to a mutation in the dystrophin gene. The dystrophin gene is the largest gene in the body and its messenger RNA is mainly expressed in skeletal and cardiac muscles, and in small amounts in the brain. It is characterized by the progressive muscle weakness which initially begins in the legs and pelvis and later extends to other muscles in the body. The absence of dystrophin protein in the body causes degeneration of skeletal and cardiac muscle.

5. Thalassemia

Thalassemia is a blood related disorder which occurs due to the lack or absence of the production of hemoglobin. Hemoglobin is an important protein which is present in red blood cells and is responsible for carrying oxygen through the body. It is a serious disorder which is accompanied by symptoms like fatigue, abdominal swelling, dark urine, and slow growth. Thalassemia is categorized into two:

  • Alpha-thalassemia
  • Beta-thalassemia

The symptoms that occur in this type of genetic disorder can vary from one person to another as it depends on the type of thalassemia and the severity of the disease. The symptoms can range from mild to severe.




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