National Institute of Immunohaematology (ICMR), Parel, Mumbai, India.
Int J Lab Hematol. 2012 Apr;34(2):148-53. doi: 10.1111/j.1751-553X.2011.01372.x. Epub 2011 Sep 6.
Hb Lepore is a structurally abnormal hemoglobin in which the abnormal globin chain is a hybrid or fused δβ globin chain. In the heterozygous condition, Hb Lepore produces the phenotype of heterozygous β thalassemia with slightly raised HbF levels.
Using a combination of HPLC and DNA analysis, we have identified eight individuals with Hb Lepore Hollandia from three families including seven heterozygotes and one compound heterozygote with β thalassemia who presented with a severe clinical phenotype.
All the heterozygotes showed elevated levels of HbF with a mean of 3.2%. Hb Lepore Hollandia genes were associated with a single β globin cluster haplotype [- - - - - - +] indicating a common origin.
Hemoglobin Lepore Hollandia is a relatively uncommon variant in the Indian population and can be identified using a combination of chromatographic, electrophoretic, and molecular analysis.
Hb Lepore 是一种结构异常的血红蛋白，其中异常的珠蛋白链是 δβ 珠蛋白链的杂合或融合。在杂合子状态下，Hb Lepore 产生杂合子 β 地中海贫血的表型，HbF 水平略有升高。
我们使用 HPLC 和 DNA 分析相结合的方法，从三个家族中鉴定出 8 名 Hb Lepore Hollandia 个体，包括 7 名杂合子和 1 名β地中海贫血的复合杂合子，他们表现出严重的临床表型。
所有杂合子的 HbF 水平均升高，平均为 3.2%。Hb Lepore Hollandia 基因与单个 β 珠蛋白簇单倍型 [- - - - - - +] 相关，表明其具有共同的起源。
血红蛋白 Lepore Hollandia 在印度人群中相对较少见，可通过色谱、电泳和分子分析相结合的方法进行鉴定。
