GENETIC BLOOD DISORDERS

Sickle Cell Anaemia:

• It is characterized by a modification in the shape of the red blood cell from a smooth, donut-shape into a crescent or half-moon shape.
  
  
• These cells lack plasticity and can block small blood vessels, impairing blood flow. This condition leads to shortened red blood cell survival, and subsequent anaemia, often called sickle-cell anaemia.
  
  
• this leads to chronic acute pain syndromes, severe bacterial infections, and necrosis (tissue death).
  
  
• Regions where it more common:
  
  
• Treatment: it can be managed by simple procedures including:
  • high fluid intake
    
    
  • healthy diet
    
    
  • folic acid/Iron supplementation
    
    
  • pain medication
    
    
  • vaccination and antibiotics for the prevention and treatment of infections
    
    
  • a number of other therapeutic measures.
    
    
  
  
  

Thalassemia:

• People with thalassaemia are not able to make enough haemoglobin due to which oxygen cannot get to all parts of the body, thereby organs are unable to function properly.
  
  
• There are two major types of thalassaemia, alpha and beta, which are named for the two protein chains that make up normal haemoglobin.
  
  
• Religions where it is more common: Asia, Mediterranean basin, and Middle East.
  
  
• Treatment:
  • Blood transfusion: Thalassaemia major requires regular blood transfusions to maintain an adequate supply of haemoglobin and sustain life. As a result of multiple transfusions, organs become severely overloaded with iron and a specific treatment is needed to manage this condition.
    
    
  • Bone marrow transplant: It can be cured by a successful bone-marrow transplant; however, this procedure is expensive and not readily available in most settings. Recently, gene therapy has been successfully applied to a patient with thalassaemia.