期刊
HEMOGLOBIN
卷 36, 期 2, 页码 177-182出版社
TAYLOR & FRANCIS LTD
DOI: 10.3109/03630269.2011.644651
关键词
Hemoglobin (Hb); Thalassemia; Gene rearrangement; Hb A(2) levels; beta-Globin gene cluster
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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