<br>HBA1、HBA2 和 HBB 基因测序对于确认高氧亲和力血红蛋白诊断的重要性,Genes

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HBA1、HBA2 和 HBB 基因测序对于确认高氧亲和力血红蛋白诊断的重要性
Genes ( IF 2.8 ) Pub Date : 2022-01-13 , DOI: 10.3390/genes13010132
Mathilde Filser ₁ , Betty Gardie _{2,

3,

4} , Mathieu Wemeau ₅ , Patricia Aguilar-Martinez ₆ , Muriel Giansily-Blaizot ₆ , François Girodon _{1,

4,

7}

Affiliation

高氧亲和力血红蛋白（HOAH）是引起体质性红细胞增多的主要原因。编码 α 和 β 珠蛋白链（HBA1、HBA2 和 HBB）的基因突变增强了氧与血红蛋白 (Hb) 的结合，导致组织缺氧和继发性红细胞增多。 HOAH 的诊断基于专业实验室对 HBA1、HBA2 或 HBB 突变的鉴定。 Hb 表型研究也很有用，但电泳分析在 1/3 的病例中可能是正常的。 Hb 解离曲线的建立可用作另一种筛选测试，向左移动表明对 Hb 的亲和力增加。使用 Hemox 分析仪直接测量静脉 P50 非常重要，但由于特定的分析条件，只有少数专业实验室可以使用。或者，大多数血气分析仪都可以通过静脉血获得 P50 的估计测量值。因此，我们研究的目的是确定正常的静脉 P50 值是否可以排除 HOAH。我们对 75 名特发性红细胞增多症患者的 HBB、HBA1 和 HBA2 基因进行了测序。患者之前接受过详尽的体检，之后静脉 P50 值被定义为正常。令人惊讶的是，测序在三名患者中检测到了 HOAH（两名患者中存在 Hb Olympia，另一名患者中存在 Hb St Nazaire）。对他们的医疗档案进行仔细回顾性检查后发现，(i) 其中一个 P50 样本是动脉样本； (ii) 另一个样品中有一些空气； (iii) 其中一名患者实际上并未进行 P50 测量。我们的研究表明，在现实生活中，由于分析前的意外情况，被归类为正常的静脉 P50 值可能不足以排除 HOAH 的诊断。因此，我们建议在探索特发性红细胞增多症时对 HBB、HBA1 和 HBA2 基因进行系统测序。

"点击查看英文标题和摘要"

Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin

High oxygen affinity hemoglobin (HOAH) is the main cause of constitutional erythrocytosis. Mutations in the genes coding the alpha and beta globin chains (HBA1, HBA2 and HBB) strengthen the binding of oxygen to hemoglobin (Hb), bringing about tissue hypoxia and a secondary erythrocytosis. The diagnosis of HOAH is based upon the identification of a mutation in HBA1, HBA2 or HBB in specialized laboratories. Phenotypic studies of Hb are also useful, but electrophoretic analysis can be normal in 1/3 of cases. The establishment of the dissociation curve of Hb can be used as another screening test, a shift to the left indicating an increased affinity for Hb. The direct measurement of venous P50 using a Hemox Analyzer is of great importance, but due to specific analytic conditions, it is only available in a few specialized laboratories. Alternatively, an estimated measurement of the P50 can be obtained in most of the blood gas analyzers on venous blood. The aim of our study was therefore to determine whether a normal venous P50 value could rule out HOAH. We sequenced the HBB, HBA1 and HBA2 genes of 75 patients with idiopathic erythrocytosis. Patients had previously undergone an exhaustive medical check-up after which the venous P50 value was defined as normal. Surprisingly, sequencing detected HOAH in three patients (Hb Olympia in two patients, and Hb St Nazaire in another). A careful retrospective examination of their medical files revealed that (i) one of the P50 samples was arterial; (ii) there was some air in another sample; and (iii) the P50 measurement was not actually done in one of the patients. Our study shows that in real life conditions, due to pre-analytical contingencies, a venous P50 value that is classified as being normal may not be sufficient to rule out a diagnosis of HOAH. Therefore, we recommend the systematic sequencing of the HBB, HBA1 and HBA2 genes in the exploration of idiopathic erythrocytosis.

更新日期：2022-01-13

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