title: Fanconi's Anemia Effect or Sickle Cell Anemia Effect: That is the Question.
abstract: A 16-year-old boy who was diagnosed to have sickle cell anemia was referred to our center. The parental consanguinity, growth retardation and dysmorphic features prompted a search for possible Fanconi's Anemia (FA). The diepoxybutane (DEB) test was positive, confirming FA. The interaction of both diseases might account for his relatively mild phenotype in terms of both sickle cell anemia (or Hb S, HBB: c.20A > T) and FA. The high Hb F level that might be related to concomitant FA, may have caused a milder phenotype of sickle cell anemia, whereas nitric oxide (NO) depletion as a consequence of sickle cell anemia, may have caused a delay in the bone marrow failure of FA.
authors.affiliation: Center for Inherited Bone Marrow Failure Syndromes, Hacettepe University , Ankara , Turkey.
authors.forename: Sule
authors.initials: S
authors.lastname: Unal
authors.forename: David H K
authors.initials: DH
authors.lastname: Chui
authors.forename: Fatma
authors.initials: F
authors.lastname: Gumruk
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D004249:DNA Damage; D003937:Diagnosis, Differential; D004909:Erythrocyte Indices; D005199:Fanconi Anemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype
chemical_list: D005319:Fetal Hemoglobin
keywords: Bone marrow failure; DNA repair; Fanconi’s Anemia (FA); Hb F; nitric oxide; sickle cell anemia or Hb S