轻型α-地中海贫血携带者的红细胞流变行为。

Hemorheology and Haemostasis Unit, Service of Clinical Pathology, La Fe University Hospital, Valencia, Spain.

Clin Hemorheol Microcirc. 2011;48(4):241-6. doi: 10.3233/CH-2011-1416.

Although several studies have been published regarding rheological behaviour of red blood cells in beta and delta-beta thalassaemia traits, little information about erythrocyte deformability in alpha-thalassaemia carriers is available. We aimed to determine erythrocyte deformability in heterozygous (silent, -α/αα) and homozygous (minor alpha-thalassaemia, -α/-α) carriers of the alpha-thalassaemia trait for the alpha 3.7 deletion, the most common in our geographical area. We evaluated erythrocyte deformability by means of the elongation index (EI) in a Rheodyn SSD at 12, 30 and 60 Pa, along with basic haematological cell count, erythrocyte indices, reticulocytes, plasma lipids and iron metabolism parameters in 36 (18 women, 18 men) alpha-thalassaemia carriers (17 heterozygous, 19 homozygous) and 36 healthy subjects (23 women, 13 men). The molecular diagnosis of the alpha 3.7 deletion was evaluated by a PCR-based method. Alpha-thalassaemia carriers presented higher red blood cell counts, RDW-CV (p < 0.001) and lower haemoglobin, MCV, MCH and MCHC (p < 0.001) than controls. EI was statistically lower at 12, 30 and 60 Pa in cases than in controls (p = 0.001, p = 0.002, p = 0.010, respectively). No differences in either elongation indices or haematimetric values were observed when comparing silent heterozygous and minor homozygous alpha-thalassaemia carriers (p > 0.05). Pearson's bivariate correlation showed that EI60 correlated positively with haemoglobin and MCV, MCH, MCHC (p < 0.01), but negatively with ferritin (p< 0.05) and RDW-CV (p< 0.01). In the multivariate regression analysis, MCV (p = 0.001) and haemoglobin (p < 0.001) predicted EI60, with this model accounting for around 43% of variation in EI60 (R2 = 0.427). Alpha-thalassaemia carriers phenotypically showed mild microcytosis and hypochromia, irrespectively of them being silent heterozygous or minor homozygous alpha-thalassaemia carriers, which is associated with decreased erythrocyte deformability.

尽管已经有几项关于β和δβ地中海贫血特征下的红细胞流变行为的研究发表，但关于α地中海贫血携带者的红细胞变形能力的信息却很少。我们旨在确定最常见于我们地理区域的α 珠蛋白基因 3.7 缺失所致的α地中海贫血特征的杂合子（沉默，-α/αα）和纯合子（轻度α地中海贫血，-α/-α）携带者的红细胞变形能力。我们通过 Rheodyn SSD 在 12、30 和 60 Pa 下的伸长指数（EI）来评估红细胞变形能力，同时评估基本的血细胞计数、红细胞指数、网织红细胞、血浆脂质和铁代谢参数在 36 名（18 名女性，18 名男性）α地中海贫血携带者（17 名杂合子，19 名纯合子）和 36 名健康受试者（23 名女性，13 名男性）中。通过基于 PCR 的方法评估α 3.7 缺失的分子诊断。与对照组相比，α地中海贫血携带者的红细胞计数、RDW-CV（p<0.001）较高，血红蛋白、MCV、MCH 和 MCHC（p<0.001）较低。在病例中，EI 在 12、30 和 60 Pa 时均低于对照组（p=0.001、p=0.002、p=0.010，分别）。在沉默的杂合子和轻度纯合子α地中海贫血携带者之间，伸长指数或血液学值没有差异（p>0.05）。Pearson 双变量相关性显示，EI60 与血红蛋白和 MCV、MCH、MCHC 呈正相关（p<0.01），但与铁蛋白（p<0.05）和 RDW-CV（p<0.01）呈负相关。在多元回归分析中，MCV（p=0.001）和血红蛋白（p<0.001）预测 EI60，该模型解释了 EI60 变化的约 43%（R2=0.427）。α地中海贫血携带者表型表现为轻度小细胞低色素性，无论他们是沉默的杂合子还是轻度纯合子α地中海贫血携带者，这与红细胞变形能力降低有关。