Genetic Profile of Beta-Thalassemia and Sickle Cell Disease in Eastern Uttar Pradesh.

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  • Author(s): Aggarwal P;Aggarwal P; Ali A; Ali A; Gupta V; Gupta V
  • Source:
    Indian pediatrics [Indian Pediatr] 2024 Dec 15; Vol. 61 (12), pp. 1131-1133. Date of Electronic Publication: 2024 Sep 10.
  • Publication Type:
    Journal Article
  • Language:
    English
  • Additional Information
    • Source:
      Publisher: Indian Pediatrics Country of Publication: India NLM ID: 2985062R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0974-7559 (Electronic) Linking ISSN: 00196061 NLM ISO Abbreviation: Indian Pediatr Subsets: MEDLINE
    • Publication Information:
      Publication: New Delhi : Indian Pediatrics
      Original Publication: Bombay.
    • Subject Terms:
      beta-Thalassemia*/genetics ; beta-Thalassemia*/epidemiology ; Anemia, Sickle Cell*/genetics ; Anemia, Sickle Cell*/epidemiology; Humans ; India/epidemiology ; Child ; Mutation ; Male ; Female ; Child, Preschool ; Adolescent ; Genetic Profile ; Infant ; beta-Globins/genetics
    • Abstract:
      We report the prevalence of different mutations in the hemoglobin subunit beta (HBB) gene of 133 children with beta-thalassemia and 23 children with sickle cell disease (SCD), most of them belonging to the states of Uttar Pradesh (UP), Jharkhand, Chhattisgarh and Bihar. IVS 1-5 was the most common mutation (n = 42) followed by CD41/42 (n = 4) and CD8/9 (n = 4). Notably, some mutations like c.47G>A, c.51del and c.123delT not previously reported from UP were found.
    • Accession Number:
      0 (beta-Globins)
    • Publication Date:
      Date Created: 20240913 Date Completed: 20241211 Latest Revision: 20241211
    • Publication Date:
      20241211
    • Accession Number:
      39267277