XmnI polymorphism is associated with fetal hemoglobin levels in hypoplastic syndromes

Sao Paulo Medical Journal

Marily Maria Azevedo Shimmoto²  Perla Vicari²  Andréa Cristina Fernandes²  Gustavo Stuani Guimarães¹  Maria Stella Figueiredo² 

[1] ,Universidade Federal de São Paulo Escola Paulista de Medicina Hematology and Blood Transfusion ServiceSão Paulo,Brazil

关键词: Polymorphism;    Aplastic anemia;    Paroxysmal hemoglobinuria;    Fetal hemoglobin;    Polymerase chain reaction;    Polimorfismo;    Anemia aplástica;    Hemoglobinúria paroxística;    Hemoglobina fetal;    Reação em cadeia da polimerase;   

DOI  :  10.1590/S1516-31802006000200012

来源: SciELO

【 摘 要 】

CONTEXT AND OBJECTIVE: Acquired 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 SETTING: Cross-sectional study at the Hematology and Blood Transfusion Service of Universidade Federal de São Paulo - Escola Paulista de Medicina. METHODS: We 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. RESULTS: The 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). CONCLUSIONS: XmnI polymorphism absence reduction is associated with acquired HbF elevation. Further studies are required to confirm these observations and make treatment, prognosis and survival comparisons.

【 授权许可】

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