• Marily Maria Azevedo Shimmoto, Perla Vicari, Andréa Cristina Fernandes, Gustavo Stuani Guimarães, and Maria Stella Figueiredo.
• Hematology and Blood Transfusion Service, Universidade Federal de São Paulo-Escola Paulista de Medicina, São Paulo, Brazil.
• Sao Paulo Med J. 2006 Mar 2; 124 (2): 110111110-1.

Context And ObjectiveAcquired fetal hemoglobin (HbF) elevation has been implicated as a prognostic factor in dyserythropoietic disorders. Our objectives were to examine acquired HbF increases in aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) patients, and to evaluate whether there is an association between the presence of XmnI and 5' hypersensitive site locus control region (LCR-HS2) polymorphisms and the HbF levels.Design And SettingCross-sectional study at the Hematology and Blood Transfusion Service of Universidade Federal de São Paulo - Escola Paulista de Medicina.MethodsWe studied a group of 37 patients with AA and/or PNH. Polymerase chain reaction (PCR) and enzymatic digestion were utilized to analyze XmnI polymorphisms; and PCR, cloning and automated sequencing for the HS2 polymorphisms.ResultsThe mean HbF level was 2.32%, but there was no significant difference in HbF level between the AA and PNH groups (p = 0.46). HbF levels of less than 1.0% showed a significant correlation with absence of the XmnI (+) polymorphism (p = 0.02). The presence of the XmnI allele was greater in the AA group (p = 0.007).ConclusionsXmnI polymorphism absence reduction is associated with acquired HbF elevation. Further studies are required to confirm these observations and make treatment, prognosis and survival comparisons.

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