Sickle Cell Disease

Sickle cell disease is caused by amutation in the HBB gene responsible for theproduction of hemoglobin. The disorder affects the hemoglobin molecule responsible for delivering oxygen to the cells throughout the body. People affected with the disease typically have a characteristic sickle or crescent shaped red blood cell.

Medical Condition
  • Low Red Blood Cells count
  • Prone to bacterial infections
  • Damaged spleen, lung & other vital organs
  • Psychiatric disorders
  • Yellowing of skin (Signs of Jaundice)
  • High blood pressure
  • Pulmonary Hypertension
Genetic Changes
  • HBB gene provides genetic code for making beta-globin.
  • Mutation of the HBB causes abnormal variants of beta-globin such as HbS, HbC & HbE.
  • Most individuals suffering from this disease are anemic
  • Some individuals also show signs of beta thalassemia and other variants of the disease
Treatment

No specific treatment as it is a genetic disorder with high morbidity.

  • Bone Marrow transplantation
  • Blood transfusion
  • Enzyme replacement therapy
  • Gene therapy
Solution
  • Genetic screening can identify single gene disorders
  • Early prognosis can prevent such diseases
  • Remedial & personalized medicine can change the outcome
  • Doctors can suggest alternatives for couples planning pregnancy
More information

At Aaranya Biosciences we use Next Generation Sequencing (NGS) to analyze single gene disorders. Our screening test with NGS has an accuracy of 99%.






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