Waye J S, Eng B, Patterson M, Chui D H, Chang L S, Cogionis B, Poon A O, Olivieri N F
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
Am J Hematol. 1994 Dec;47(4):262-5. doi: 10.1002/ajh.2830470403.
We describe a family from Bangladesh in which three children are compound heterozygotes for Hb E (alpha 2 beta 2, beta 26Glu Lys) and Hb Lepore (delta-beta fusion gene). PCR amplification and direct nucleotide sequencing established that the fusion gene is Hb LeporeHollandia, with the cross-over localized to a 40 bp window between codon 22 and IVS-1 nt 16 of the delta- and beta-globin genes. This unusual combination of mutations is associated with a relatively mild clinical phenotype, with all three affected siblings having microcytic anemia of moderate severity without the need for transfusions.
我们描述了一个来自孟加拉国的家庭，其中三个孩子是Hb E（α2β2，β26Glu Lys）和Hb Lepore（δ-β融合基因）的复合杂合子。聚合酶链反应（PCR）扩增和直接核苷酸测序确定该融合基因为Hb LeporeHollandia，交叉点定位于δ-和β-珠蛋白基因密码子22和IVS-1 nt 16之间的40 bp窗口。这种不寻常的突变组合与相对较轻的临床表型相关，所有三个受影响的兄弟姐妹都患有中度严重程度的小细胞贫血，无需输血。
