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Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population.

Farjana Akther NoorNusrat SultanaGolam Sarower BhuyanMd Tarikul IslamMohabbat HossainSuprovath Kumar SarkerKhaleda IslamWaqar Ahmed KhanMujahida RahmanSyeda Kashfi QadriHossain Uddin ShekharFirdausi QadriSyed Saleheen QadriKaiissar Mannoor
Published in: Orphanet journal of rare diseases (2020)
Since carrier frequency for both HbE and β-thalassemia is alarmingly high in Bangladesh, a nationwide awareness and prevention program should be made mandatory to halt the current deteriorating situations. Mutation-based confirmation is highly recommended for the inconclusive cases with conventional carrier screening methods to avoid any faulty detection of thalassemia carriers.
Keyphrases
  • sickle cell disease
  • loop mediated isothermal amplification
  • label free
  • real time pcr
  • cross sectional
  • quality improvement
  • copy number
  • gene expression
  • dna methylation
  • genome wide
  • red blood cell