Comparison Of Two Known Chromosomal Rearrangements In The Delta Beta-Globin Complex With Identical Dna Breakpoints But Causing Different Hb A(2) Levels
HEMOGLOBIN(2012)
摘要
We report three cases with very heterogeneous Hb A(2) levels caused by known chromosomal rearrangements in the beta-globin locus. These rearrangements had their breakpoints at the same region in the delta gene, leading either to the Senegalese delta(0)beta(+)-thalassemia (delta(0)beta(+)-thal) deletion or to an insertion of a delta gene, known as Anti-Lepore. One patient showed, apart from drastically increased Hb A(2) values of 17.0%, inconspicuous hematological values. He had an Anti-Lepore mutation with three copies of the d gene, thus explaining the high Hb A(2) level. Two other patients had Hb A(2) levels in the lower borderline range and increased Hb F levels. Molecular analysis showed the Senegalese delta(0)beta(+)-thal deletion. One of them presented with an additional mild beta-thal mutation leading to beta-thal intermedia. These cases illustrate that different gene rearrangements with the same breakpoints in the d gene can lead to different levels of Hb A(2) depending on the remaining number of delta genes.
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关键词
Hemoglobin (Hb), Thalassemia, Gene rearrangement, Hb A(2) levels, beta-Globin gene cluster
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