Papassotiriou I, Traeger-Synodinos J, Kanavakis E, Karagiorga M, Stamoulakatou A, Kattamis C
Hematology Laboratory, Aghia Sophia Children's Hospital, Athens, Greece.
J Pediatr Hematol Oncol. 1998 Nov-Dec;20(6):539-44.
To determine serum immunoreactive erythropoietin (Epo) and soluble transferrin receptors (sTfR) levels in patients with hemoglobin H (HbH) disease and the correlation with HbH levels and alpha-globin genotype.
Twenty patients with HbH disease were studied. Methods applied included cation-exchange high pressure liquid chromatography for HbH levels, chemoluminescence for Epo concentration, immunoassay for sTfR concentration, and DNA analysis for alpha-globin genotype characterization.
Serum Epo and sTfR levels were significantly elevated (46.6+/-26.8 IU/l and 5.6+/-1.8 mg/l, respectively) in patients with HbH disease compared to controls (9.2+/-3.3 IU/l and 1.8+/-0.7 mg/l, respectively). Epo and sTfR levels correlated positively with HbH concentration (r = 0.93 and 0.80, respectively). The highest Epo and sTfR values were observed in three patients with the highest HbH levels who all had nondeletion alpha-thalassemia mutations.
Epo and sTfR levels are increased in patients with HbH disease; this increase is directly related to the HbH concentration that usually reflects the degree of globin polypeptide imbalance. The correlation of Epo, sTfR, and reticulocyte production index in these patients indicates that anemia in HbH disease mainly is caused by ineffective erythropoiesis and a mild degree of peripheral hemolysis.
测定血红蛋白H（HbH）病患者血清免疫反应性促红细胞生成素（Epo）和可溶性转铁蛋白受体（sTfR）水平，并探讨其与HbH水平及α-珠蛋白基因型的相关性。
对20例HbH病患者进行研究。采用的方法包括阳离子交换高压液相色谱法检测HbH水平、化学发光法检测Epo浓度、免疫分析法检测sTfR浓度以及DNA分析鉴定α-珠蛋白基因型。
与对照组（分别为9.2±3.3 IU/l和1.8±0.7 mg/l）相比，HbH病患者血清Epo和sTfR水平显著升高（分别为46.6±26.8 IU/l和5.6±1.8 mg/l）。Epo和sTfR水平与HbH浓度呈正相关（r分别为0.93和0.80）。在HbH水平最高的3例患者中观察到最高的Epo和sTfR值，这3例患者均有非缺失型α地中海贫血突变。
HbH病患者Epo和sTfR水平升高；这种升高与通常反映珠蛋白多肽失衡程度的HbH浓度直接相关。这些患者中Epo、sTfR与网织红细胞生成指数的相关性表明，HbH病贫血主要由无效红细胞生成和轻度外周溶血引起。
