Ondei L S, Zamaro P J A, Mangonaro P H, Valêncio C R, Bonini-Domingos C R
Laboratório de Hemoglobinas e Genética das Doenças Hematológicas, Departamento de Biologia, IBILCE/UNESP, São José do Rio Preto, SP, Brasil.
Genet Mol Res. 2007 Jun 30;6(2):453-60.
The purpose of the present study was to establish reference values for hemoglobins (Hb) using HPLC, in samples containing normal Hb (AA), sickle cell trait without alpha-thalassemia (AS), sickle cell trait with alpha-thalassemia (ASH), sickle cell anemia (SS), and Hb SC disease (SC). The blood samples were analyzed by electrophoresis, HPLC and molecular procedures. The Hb A2 mean was 4.30 +/- 0.44% in AS, 4.18 +/- 0.42% in ASH, 3.90 +/- 1.14% in SS, and 4.39 +/- 0.35% in SC. They were similar, but above the normal range. Between the AS and ASH groups, only the amount of Hb S was higher in the AS group. The Hb S mean in the AS group was 38.54 +/- 3.01% and in the ASH it was 36.54 +/- 3.76%. In the qualitative analysis, using FastMap, distinct groups were seen: AA and SS located at opposite extremes, AS and ASH with overlapping values and intermediate distribution, SC between heterozygotes and the SS group. Hb S was confirmed by allele-specific polymerase chain reaction. The Hb values established will be available for use as a reference for the Brazilian population, drawing attention to the increased levels of Hb A2, which should be considered with caution to prevent incorrect diagnoses.
本研究的目的是利用高效液相色谱法(HPLC),在含有正常血红蛋白(Hb)(AA)、无α地中海贫血的镰状细胞性状(AS)、有α地中海贫血的镰状细胞性状(ASH)、镰状细胞贫血(SS)和Hb SC病(SC)的样本中建立血红蛋白(Hb)的参考值。通过电泳、HPLC和分子程序对血样进行分析。AS组中Hb A2的平均值为4.30±0.44%,ASH组为4.18±0.42%,SS组为3.90±1.14%,SC组为4.39±0.35%。它们相似,但高于正常范围。在AS组和ASH组之间,仅AS组中Hb S的含量较高。AS组中Hb S的平均值为38.54±3.01%,ASH组中为36.54±3.76%。在定性分析中,使用快速图谱(FastMap),可以看到不同的组:AA和SS位于相反的极端,AS和ASH值重叠且呈中间分布,SC介于杂合子和SS组之间。通过等位基因特异性聚合酶链反应确认了Hb S。所建立的Hb值将可供巴西人群用作参考,提请注意Hb A2水平的升高,在预防错误诊断时应谨慎考虑这一点。