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Hemoglobin
international journal for hemoglobin research
Volume 29, 2005 - Issue 4
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Short Communication

High Hb A2 β-Thalassemia Due to a 468 bp Deletion in a Patient with Hb S/β-Thalassemia

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Pages 293-295 | Received 10 Jun 2005, Accepted 10 Jul 2005, Published online: 07 Jul 2009
 

Abstract

We describe a case of Hb S/β-thalassemia (thal) involving a 468 bp deletion that removes the β-globin gene promoter but leaves the coding regions intact. This is the second report of this deletion, and our family study establishes that this deletion causes β0-thal with unusually high levels of Hb A2 and Hb F. As with other genotypes involving deletions of the 5′ region of the β-globin gene, our patient had a mild form of Hb S/β-thal.

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