Interesting genetic disorders [Uncommon Disorders]

An article about interesting genetic disorders in our medical blogs for students. Today’s human or as I refer to say “the mystical creature “ have been evolved after hundreds of changes that being accompanied by our ancestors. it was even instructed that humans had split from a typical relationship with the African apes by concerning thirty million years agone, creating our evolution an awfully long method. All the changes are due to different aspects, some due to environmental effects, some genes mutation, some psychological effects.

Talking about genetic mutations we have some great benefits from that like we have a great complex immune system, we are the most intelligent living being on earth but with that saying, we have also been cursed by some these disorders which take hundreds of lives every year ,make hundreds of people disable and effects human society. So today I want to light our focus on some of the Interesting genetic disorders prevailing in our society


The genetic disorder is any changes in person’s chromosome or DNA which causes illness.
There are two types of genetic disorders

  1. Chromosomal abnormalities disorders
  2. Gene related disorders

Chromosomal disorders :

These Interesting genetic disordersoccur when there is an absence or excess or abnormal
arrangement of one or more chromosomes. These are inheritable and are generally due to aneuploidy (presence of an abnormal number of chromosomes in a cell) and aberrations(something that deviates from the normal way). Today I am taking two popular abnormalities which are seen in our society like Down’s syndrome (autosomal) and Turner’s syndrome (chromosomal) and some other diseases information too.


History and Origin :

Also known as Mongolism, 21 trisomies, it was first reported in 1866
around the Langdon Down as the name is given with respect to the place first reported .As
I have mentioned it is an autosomal aneuploidy caused by the presence of extra
chromosome number 21. The offspring posses 47 chromosomes instead of 46, resulting in male –45+XY and female -45+XX.

Effects and changes :

  • Rounded face, broad forehead.
  • Permanently open mouth.
  • -mall fingers and many loops on fingertips.
  • Epicanthus (Mongolian type eyelid).
  • Characteristic palmer crease.
  • IQ level below 40.
  • Gonads and genitalia undeveloped.
Down’ syndrome


Down Syndrome is not cured. However, early treatment will facilitate many folks with subnormality to measure productive lives well into adulthood. It is advised that youngsters with subnormality may get pleasure from medical treatment that has aminoalkanoic acid supplements and a drug referred to as Piracetam. Piracetam may be a drug that some folks believe could improve the flexibility of the brain to be told and


History and Origin:

Turner’s syndrome was first reported in 1938 and is due to monosomy (2n-1). It is formed by the union of an allosome free egg (22+0) and normal X sperm and vice versa. A person will have 45 chromosomes only. Hence it is only found a female only.

Effects and changes in body

  • Peripheral lymphoedema
  • Undeveloped breasts
  • Heating impairment
  • No menstruate
  • Webbed neck
Turner’s  syndrome


Although there’s no cure for Turner syndrome, some treatments will facilitate to minimize its symptoms. These include Human STH. If given in time of life, internal secretion injections will typically increase adult height by a number of inches.

Gene Related Interesting genetic disorders

These occur due to abnormalities in genome. Some of them are
1)Sickle cell anemia
2)Colour Blindness

Sickle Cell Anaemia :

It was reported 1st time by Herrick in 1904. It’s associate chromosome heredity Interesting genetic disorderswithin which erythrocytes become edge tool formed underneath O deficiency as throughout strenuous exercise and at high altitudes. This sickness is caused by a factor Hbs. The traditional issue HbA gift on body eleven has undergone mutation to provide the recessive Hbs cistron that causes anemia in homozygous condition (Hbs Hbs) and conjointly the patient dies. In heterozygous condition (HbA Hbs) the patient survives, but only a few R.B.Cs are affected. The R.B.Cs throughout this illness become curved in blood as a result of the lower concentration of O. This causes rupture of cells and severe lysis anaemia.

Effects and changes :

  • Jaundice
  • Spleen and brain damage
  • Muscle cramps
  • Clotting problems


It depends on what type and how severe the case is. Some vaccinations can be done for small children. There are many ways like -Bone marrow transplant

  • Hydroxyurea
  • Blood transfusions
  • Gene therapy.

Despite having harmful effects, this anaemia continues to persist to
human populations as having survival worth in protozoal infection
plagued areas like Tropical Africa

Colour Blindness

It was first reported by Horner in 1876. Colour blindness is a recessive sex link trait in which eyes fails to distinguish between red and green colours. The vision is not mostly affected. Colour blind can lead a normal life as a gene for vision is dominant.

It is seen in males (XCY) due to the presence of only 1 X-chromosome
as compared to 2 chromosomes in females. A heterozygous feminine
has traditional vision and safe by being a carrier and passes on the
disorder to a number of her sons. Colour vision deficiency like every
alternative inheritance show crisscross inheritance.

Cure :

There’s no cure for color vision deficiency and no medical
treatments presently exist for inheritable types of color vision

Most people with color vision deficiency adapt to the color
blindness condition as for several people a visual modality
deficiency may be a comparatively minor inconvenience.

Some people go a few years while not even knowing that they
can’t see colors otherwise from however most of the people see

These are some of the information, which will help us to know
about the interesting genetic disorders, their effects and how people cope
up with it


A genetic disorder is caused by constitutional mutations, which are inherited through the germline. however, different mutations in the same gene can have different consequences, depending on the genetic mechanism underlying that disorder. About 1% of the human population carries constitution mutations that cause disease. In this blog, we learn some of the interesting genetic disorders with their causes and cure. Hope this article helped you a lot.


World of Medical Saviours (WOMS) is a website formed by a group of medicos who are embarking to provide facts, tips and knowledge related to health and lifestyle. This website proves to be a great platform for the medical enthusiast and also for those medicos searching to outgrowth their knowledge about the medical field.

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