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@ARTICLE{Allard:177243,
      author       = {P. Allard and N. Alhaj$^*$ and S. Lobitz and H. Cario and
                      A. Jarisch and R. Grosse and L. Oevermann and D. Hakimeh and
                      L. Tagliaferri and E. Kohne and A. Kopp-Schneider$^*$ and A.
                      E. Kulozik and J. B. Kunz},
      title        = {{G}enetic modifiers of fetal hemoglobin affect the course
                      of sickle cell disease in patients treated with
                      hydroxyurea.},
      journal      = {Haematologica},
      volume       = {107},
      number       = {7},
      issn         = {1592-8721},
      address      = {Pavia},
      publisher    = {Ferrata Storti Found},
      reportid     = {DKFZ-2021-02377},
      pages        = {1577-1588},
      year         = {2022},
      note         = {2022 Jul 1;107(7):1577-1588},
      abstract     = {The course of sickle cell disease (SCD) is modified by
                      polymorphisms boosting fetal hemoglobin (HbF) synthesis.
                      However, it has remained an open question how these
                      polymorphisms affect patients who are treated with the
                      HbF-inducing drug hydroxyurea/hydroxycarbamide. The German
                      SCD registry offers the opportunity to answer this question,
                      because $>90\%$ of patients are treated according to
                      national guidelines recommending the use of hydroxyurea in
                      all patients above 2 years of age. We analyzed the modifying
                      effect of HbF-related genetic polymorphisms in 417 patients
                      with homozygous SCD >2 years who received hydroxyurea. HbF
                      levels were correlated with higher total hemoglobin levels,
                      lower rates of hemolysis, a lower frequency of painful
                      crises and of red blood cell transfusions. The minor alleles
                      of the polymorphisms in the γ-globin promoter (rs7482144),
                      BCL11A (rs1427407) and HMIP (rs66650371) were strongly
                      associated with increased HbF levels. However, these
                      associations did not translate into lower frequencies of
                      vasoocclusive events that did not differ between patients
                      either carrying or not carrying the HMIP and BCL11A
                      polymorphisms. Patients on hydroxyurea carrying the γ-
                      globin promoter polymorphism demonstrated substantially
                      higher hemoglobin levels (p.},
      cin          = {C060},
      ddc          = {610},
      cid          = {I:(DE-He78)C060-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34706496},
      doi          = {10.3324/haematol.2021.278952},
      url          = {https://inrepo02.dkfz.de/record/177243},
}