UOC Ematologia II, AOR Villa Sofia-Cervello, Palermo, Italy.
Eur J Haematol. 2010 May;84(5):453-7. doi: 10.1111/j.1600-0609.2010.01414.x. Epub 2010 Jan 5.
This report represents the first observation in Sicily of two rare beta-globin gene variants, Hb Hershey [beta70(E14) Ala-->Gly] and Hb La Pommeraie [beta133(H11)Val-->Met], found in a 35-year-old male patient from Messina, in the north-east of Sicily during population screening for hemoglobinopathies.
The occurrence of the Hb variants was assessed by cation exchange chromatography while complete blood counts were obtained using automatic cell counters. Red cell lysates were analyzed by electrophoresis at alkaline and acid pH. Stability of hemoglobin was checked by the isopropanol precipitation test and by the heat tests while inclusion bodies and reticulocyte count were determined by incubation of blood samples with brilliant cresyl blue. Molecular analysis was performed by DNA sequencing of beta- and alpha-globin genes.
We observed an abnormally high performance liquid chromatography elution with a slight reduction in mean corpuscular volume and mean corpuscular haemoglobin parameters and mutations at codon 70 GCC-->GGC (Hb Hershey) and at codon 133 GTG-->ATG (Hb La Pommeraie) in beta-globin gene.
Family analysis of three generations demonstrated the presence of these two mutations in trans. So it was possible to describe the phenotypes of these variants in a heterozygous state and in double heterozygous state.
本报告代表了在西西里岛首次观察到两种罕见的β-珠蛋白基因突变，Hb Hershey [β70(E14) Ala-->Gly] 和 Hb La Pommeraie [β133(H11)Val-->Met]，它们存在于来自西西里岛东北部墨西拿的一名 35 岁男性患者中，该患者在进行血红蛋白病人群筛查时发现。
通过阳离子交换色谱法评估 Hb 变异体的发生情况，同时使用自动细胞计数器获得全血细胞计数。红细胞裂解物在碱性和酸性 pH 下通过电泳进行分析。血红蛋白的稳定性通过异丙醇沉淀试验和热试验进行检查，包涵体和网织红细胞计数通过用灿烂甲酚蓝孵育血样来确定。通过对β-和α-珠蛋白基因的 DNA 测序进行分子分析。
我们观察到异常高的高效液相色谱洗脱，平均红细胞体积和平均红细胞血红蛋白参数略有降低，β-珠蛋白基因中密码子 70 GCC-->GGC（Hb Hershey）和 133 GTG-->ATG（Hb La Pommeraie）发生突变。
对三代人的家族分析表明这些突变在反式中存在。因此，有可能在杂合状态和双重杂合状态下描述这些变体的表型。
