Abstract：
BACKGROUND: The Hb Deer Lodge (β2 His>Arg; HBB:c.8A>G) is a structural hemoglobin variant described in some populations around the world, characterized by increased oxygen affinity, but does not confer clinical symptoms to its carriers. The coinheritance of the Hb Deer Lodge with the most common hemoglobin variant, Hb S, has been reported only once; however, functional data were not described. Here we show a case of the Hb S and Hb Deer Lodge carrier in heterozygosity.
METHODS: The Hb S and Hb Deer Lodge association was identified by High-Performance Liquid Chromatography (HPLC), reverse phase HPLC and the β globin gene sequencing. The functional characterization of this interaction was obtained using the O2 dissociation curve, determination of the cooperativity between the globin chains and the Bohr effect in the presence and absence of organic phosphates.
RESULTS: When the Hb S and Hb Deer Lodge were associated, there was a decrease in cooperativity, no significant changes in oxygen affinity and no significant Bohr effect changes.
CONCLUSIONS: Despite these genetic variations, the carrier showed no hematological alterations and no clinical symptoms, possibly due to the high oxygen affinity of the Hb Deer Lodge, which interferes with the Hb S polymerization.
METHODS: The Hb S and Hb Deer Lodge association was identified by High-Performance Liquid Chromatography (HPLC), reverse phase HPLC and the β globin gene sequencing. The functional characterization of this interaction was obtained using the O2 dissociation curve, determination of the cooperativity between the globin chains and the Bohr effect in the presence and absence of organic phosphates.
RESULTS: When the Hb S and Hb Deer Lodge were associated, there was a decrease in cooperativity, no significant changes in oxygen affinity and no significant Bohr effect changes.
CONCLUSIONS: Despite these genetic variations, the carrier showed no hematological alterations and no clinical symptoms, possibly due to the high oxygen affinity of the Hb Deer Lodge, which interferes with the Hb S polymerization.
摘要：
背景：HbDeerLodge（β2His>Arg;HBB：c.8A>G）是在世界各地的一些人群中描述的结构性血红蛋白变体，以增加的氧亲和力为特征，但不会将临床症状赋予其携带者。HbDeerLodge与最常见的血红蛋白变体的共同遗传，HbS,只报告了一次；然而，功能数据没有描述。在这里，我们显示了杂合性中HbS和HbDeerLodge载体的情况。
方法：通过高效液相色谱法（HPLC）鉴定了HbS和HbDeerLodge的关联，反相HPLC和β珠蛋白基因测序。使用O2解离曲线获得了这种相互作用的功能表征，在存在和不存在有机磷酸盐的情况下，测定珠蛋白链之间的协同性和玻尔效应。
结果：当HbS和HbDeerLodge关联时，合作性下降了，氧亲和力无明显变化，玻尔效应无明显变化。
结论：尽管有这些遗传变异，携带者无血液学改变,无临床症状,可能是由于HbDeerLodge的高氧气亲和力，干扰HbS聚合。
方法：通过高效液相色谱法（HPLC）鉴定了HbS和HbDeerLodge的关联，反相HPLC和β珠蛋白基因测序。使用O2解离曲线获得了这种相互作用的功能表征，在存在和不存在有机磷酸盐的情况下，测定珠蛋白链之间的协同性和玻尔效应。
结果：当HbS和HbDeerLodge关联时，合作性下降了，氧亲和力无明显变化，玻尔效应无明显变化。
结论：尽管有这些遗传变异，携带者无血液学改变,无临床症状,可能是由于HbDeerLodge的高氧气亲和力，干扰HbS聚合。
