Fetal Hemoglobin in Tunisian Sickle Cell Disease Patient: Relationship with Polymorphic Sequences Cis to the β-Globin Gene

  • Imen MoumniEmail author
  • Maha Ben Mustapha
  • Ikbel Ben Mansour
  • Amine Zoraï
  • Kaïs Douzi
  • Sarah Sassi
  • Dorra Chaouachi
  • Fethi Mellouli
  • Mohamed Bejaoui
  • Salem Abbes
Original Article


Fetal hemoglobin (HbF) plays a dominant role in ameliorating morbidity and mortality of hemoglobinopathies. We evaluated the effects of polymorphic markers within the β-globin gene cluster to identify the genetic mechanics that influence HbF on Tunisian sickling patients (n = 242). Haplotype analysis was carried out by polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) and the framework polymorphism was established by PCR-sequencing, four independent regions of interest were identified: the 5′ region of β-LCR-HS2 site, the intervening sequence II (IVSII) region of two fetal (Gγ and Aγ) genes and the 5′ region of β-globin gene. The correlation of these various Haplotypes and SNPs with HbF expression and clinical data was studied. Our data showed that among the various polymorphic markers analyzed, only the sequence (AT)xN12(AT)y in LCR HS2 region was significantly associated (p < 0.05) with increased HbF levels, suggesting that the β-globin gene cluster exerts a significant effect on HbF in sickle cell patients. This study can improve understanding of the physiopathology of the disease and aid to increase our ability to predict clinical severity.


Fetal hemoglobin (HbF) Microsatellite repeats Sickle cell anemia 



We are grateful to all the staff members for their close cooperation and important contributions. This study was supported by a grant from “Le Ministère de la Recherche Scientifique de Tunisie”.


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Copyright information

© Indian Society of Haematology & Transfusion Medicine 2015

Authors and Affiliations

  • Imen Moumni
    • 1
    Email author
  • Maha Ben Mustapha
    • 1
  • Ikbel Ben Mansour
    • 1
  • Amine Zoraï
    • 1
  • Kaïs Douzi
    • 1
  • Sarah Sassi
    • 1
  • Dorra Chaouachi
    • 1
  • Fethi Mellouli
    • 2
  • Mohamed Bejaoui
    • 2
  • Salem Abbes
    • 1
  1. 1.Laboratory of Molecular and Cellular Hematology, Pasteur Institute of TunisUniversity of Tunis El ManarTunisTunisia
  2. 2.Service d’Immuno-Hématologie pédiatrique, Centre National de Greffe de Moelle OsseuseTunisTunisia

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