Guo Lina, Kausar Anika, Old John M, Henderson Shirley J, Gallienne Alice E
National Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department , John Radcliffe Hospital, Headington, Oxford, Oxfordshire , UK.
Hemoglobin. 2015;39(1):58-61. doi: 10.3109/03630269.2014.988347. Epub 2014 Dec 9.
A molecular study of Hb Lepore heterozygotes identified by the UK population screening program has revealed four out of the five known Lepore variants. The region of homologous δ- and β-globin gene sequence was determined in 58 unrelated Hb Lepore heterozygotes referred for confirmation of their carrier status by DNA analysis through the national thalassemia and sickle cell screening program over a period of 10 years. The most common variant found was Hb Lepore-Boston-Washington (Hb LBW, HBD: c.265 C > c.315 + 7 C) observed in 46 carriers (79.0%). Hb Lepore-Hollandia (HBD: c.69 A > c.92 + 16 A) was found in nine cases (16.0%); Hb Lepore-Baltimore (HBD: c.208 G > c.254 C) in two cases (4.0%) and Hb Lepore-ARUP (HBD: c.97 C > c.150 C) in one carrier (2.0%). Analysis of the hematological findings showed no significant differences between the four groups. The wide range of Hb Lepore variants observed in this study confirms the very diverse range of α- and β-globin gene mutations observed in the UK population by previous studies.
一项对通过英国人群筛查项目鉴定出的血红蛋白 Lepore 杂合子的分子研究，发现了五种已知 Lepore 变体中的四种。在 10 年期间，通过国家地中海贫血和镰状细胞筛查项目，对 58 名因 DNA 分析来确认其携带者状态而被转诊的无亲缘关系的血红蛋白 Lepore 杂合子，测定了同源 δ-和 β-珠蛋白基因序列区域。发现最常见的变体是血红蛋白 Lepore-波士顿-华盛顿（Hb LBW，HBD：c.265 C > c.315 + 7 C），在 46 名携带者中观察到（79.0%）。在 9 例中发现了血红蛋白 Lepore-霍兰迪亚（HBD：c.69 A > c.92 + 16 A）（16.0%）；在 2 例中发现了血红蛋白 Lepore-巴尔的摩（HBD：c.208 G > c.254 C）（4.0%），在 1 名携带者中发现了血红蛋白 Lepore-ARUP（HBD：c.97 C > c.150 C）（2.0%）。血液学检查结果分析显示，这四组之间没有显著差异。本研究中观察到的广泛的血红蛋白 Lepore 变体，证实了先前研究中在英国人群中观察到的 α-和 β-珠蛋白基因突变的非常多样化的范围。
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