We describe presenting features, treatment strategies, and follow-up events involving 41 patients (median age 39 years, range 1–81; 54% males) with high oxygen affinity (HOA) hemoglobinopathy-associated erythrocytosis, seen at our institution (1973–2020). Thirty-four (83%) patients carried β-chain (13 Malmo, 4 Olympia, 3 San Diego, 2 Wood) and 7 (17%) α-chain (4 Dallas and one each Columbia-Missouri, Jackson, and Wayne) variants. Median (range) hemoglobin (Hgb)/hematocrit (Hct), serum erythropoietin and p50 were 18 g/dL/52.9% (16–21.9/48–66), 10.4 mIU (4–36.3), and 20 mmHg (12–25), respectively. Family history was documented in 24 patients and history of thrombosis in two (5%). Treatment included phlebotomy in 23 and antiplatelet therapy in 21 patients. At a median follow-up of 10 years, 23 (56%) patients reported one or more symptoms that were thought to be related to their increased Hct while thrombosis was documented in 10 (24%) patients. Neither Hgb/Hct level nor active phlebotomy showed a significant correlation with either thrombotic or nonthrombotic symptoms (p > .1 in all instances). Among 23 pregnancies recorded, 78% resulted in live births and no fetal loss was attributed to erythrocytosis. The current study does not implicate Hgb/Hct level as a major contributor of morbidity in HOA hemoglobinopathy-associated erythrocytosis and suggests limited therapeutic value for phlebotomy.

中文翻译：

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高氧亲和性血红蛋白病相关红细胞增多症：41 例临床结果和治疗效果

我们描述了在我们机构（1973 年– 2020）。34 名 (83%) 患者携带 β 链（13 名马尔默、4 名奥林匹亚、3 名圣地亚哥、2 名伍德）和 7 名（17%）α 链（4 名达拉斯，哥伦比亚-密苏里州、杰克逊和韦恩各 1 名）变种。中值（范围）血红蛋白 (Hgb)/血细胞比容 (Hct)、血清促红细胞生成素和 p50 为 18 g/dL/52.9% (16–21.9/48–66)、10.4 mIU (4–36.3) 和 20 mmHg (12– 25），分别。24 名患者记录有家族史，2 名患者 (5%) 有血栓形成史。治疗包括 23 名患者的放血和 21 名患者的抗血小板治疗。中位随访 10 年，23 名 (56%) 患者报告了一种或多种被认为与 Hct 升高有关的症状，而 10 名 (24%) 患者记录了血栓形成。Hgb/Hct 水平和主动采血均未显示与血栓形成或非血栓形成症状显着相关。 在所有情况下p > .1）。在记录的 23 次怀孕中，78% 导致活产，没有胎儿丢失归因于红细胞增多症。目前的研究并未暗示 Hgb/Hct 水平是 HOA 血红蛋白病相关红细胞增多症的主要发病因素，并表明放血的治疗价值有限。