Definition

• A mutation pertains to any alteration in the normal state of a gene or chromosome. Mutations may be beneficial or detrimental, depending on its overall effect to the body of the gene carrier.
  In sickle cell disease, the hemoglobin gene is mutated. This mutation causes the hemoglobin to form abnormal or long and rod-like shape (RBCs).
  
  

Hemoglobin S

• The mutated genes in sickle cell diseases are called Hemoglobin S (Hb S). These mutated genes have low solubility in the bloodstream due to an abnormal structure, particularly in a protein structure that is part of the hemoglobin
  
  

Cause

• The mutation in sickle cell disease is caused by the substitution of valine (an amino acid) for glutamate (an amino acid part of Hb) at residue 6 in the beta-chain of hemoglobin. In short, an alteration in the protein part of hemoglobin causes sickle cell diseases.
  
  

Effect

• The low solubility of Hb S results to precipitation and then accumulation in blood vessels, which accounts for infarction or the blockage in blood supply that may lead to tissue death.
  
  

Significance

• Early detection of any mutated gene, such as Hb S in sickle cell diseases prevents development of further risks and complications.
  According to the Sickle Cell Information Center "Sickle cell patients should be under the care of a medical team that understands sickle cell disease." Furthermore, newborn babies in most states are subjected to sickle cell test.