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Hemoglobin
international journal for hemoglobin research
Volume 31, 2007 - Issue 1
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Short Communication

Misdiagnosis of Hb Constant Spring (α142, Term→Gln, TAA→CAA in α2) in a Hb H (β4) Disease Child

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Pages 105-108 | Received 09 May 2006, Accepted 13 Jun 2006, Published online: 07 Jul 2009
 

Abstract

Hb Constant Spring (Hb CS; α142, Term→Gln, TAA→CAA in α2) is the most prevalent nondeletional α-thalassemia (thal) in Southeast Asian populations. It is difficult to detect on electrophoresis in its heterozygous state because of the low Hb CS levels. We found a case with Hb H (β4) disease who, at birth, was initially assumed to have deletional α-thal mutations, but eventually proved to have a Hb CS defect.

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