report on any chromosonal disorder genetically inherited disease in detail?

Dear student,
Sickle cell anaemia is one of the disorder which is genetically inherited. ​Sickle cell anemia is a disease which is caused by a mutation in which the amino acid at 6th position (glutamine) in the beta chain of hemoglobin is replaced by valine. The major characteristics of this disease are anaemia (less functional RBCs) and a tendency of the red blood cells to change shape at low oxygen concentrations. The sickle cells are useless and have to be broken down. They tend to jam in capillaries and small blood vessels and prevent normal blood flow. A whole range of secondary symptoms is possible as a result. The kidneys and joints are particularly affected. The blocking of blood vessels causes pain in arms, legs, back and stomach which can be quite severe. Joints may become stiff and painful and hands and feet may swell.

Regards


 

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