Aasai

Genetic Disorders and their descriptions.

A genetic disorder is a disease that is caused by an abnormality in an individual’s DeoxyNucleicAcid (DNA). Abnormalities can be as small as a single-base mutation in just one gene, or they can involve the addition or subtraction of entire chromosomes. Genetic disorders or abnormalities are linked with recessive genes rather than dominant genes and will only be manifested when in pair or double recessive (i.e. bb) or(rr). Below are some genetic defects that are widely known and their descriptions.

Sickle-cell Anaemia is a genetic disorder caused by a recessive defective gene that manifests itself in abnormally shaped red blood cells (sickle-shaped rather than circular) which clog together and carry less oxygen. The individuals die in childhood or are severely ill throughout their life.Individuals suffering from this genetic disorder has one advantage.The advantage is that they rarely suffer from malaria since their red blood cells carry less oxygen.

Down’s syndrome or Mongolism is a condition caused by the presence of an extra chromosome (21 chromosomes) which is caused by failure of the chromosome to separate.Children who suffer from this disorder tend to be slow learners due to low intelligence quotient.Characteristics are low IQ (20 -60), broad noses, square shaped ears and heads, protruding tongues, defective hearts and squinty eyes with oriental appearance.

Turner’s syndrome a genetic defect that is caused by a missing X chromosome (0X) in the female children. Victims have undeveloped secondary sexual characteristics and are very short and sterile. Injection with female sex hormones can cause development of feminine characteristics like development of secondary sexual characteristics like breast development.

Klinefelter’s syndrome is caused by the presence of an extra X chromosome (XXY) in the males which causes the victim to have both male and female secondary sex characteristics.Males with this genetic disorder tend to have developed breasts and hips which are the secondary characteristics for females.

Super male syndrome is caused by the presence of an extra Y chromosome in the males and manifests itself in individuals having low IQ, tall and with strong muscle structure and tendency towards aggression and violence. Prevalent among criminals and wrestlers.Self awareness and counseling services can help in assisting these individuals.

Phenylketonuria (PKU) is caused by presence of two recessive genes which results in accumulation of poison in the bloodstream causing brain damage and nervous system, thus causing mental retardation and hyperactivity.If not taken care of it can lead to Attention deficit hyperactivity disorder due to its hyperactivity characteristics.

Tay sac’s disease is linked to a recessive gene which causes fat to accumulate in the brain cells resulting in blindness, deafness, mental retardation and finally death. Common among Jews.Haemophilia is a blood disorder associated with the X-linked recessive gene that causes poor blood clotting. Can be treated by transfusions clotting factors.

Conclusion 

Genetic disorders are caused by abnormality in the structure of the DNA.Genetic disorders are inherited from parents to offsprings and there is need for adequate understanding of these disorders to ensure effective accomodations for individuals with the above disorders as well as allowing them to participate in social activities by destigmatization of above disorders.

References.

Physiological Psychology.