Sickle Cell Anemia Research Today is a free monthly online journal that collates and summarizes the latest research about Sickle Cell Anemia, including details on genetics, causes, symptoms.

Rapid molecular characterization of Hb Queens and Hb Siam: two variants easily misidentified as sickle Hb.

Fucharoen S, Singsanan S, Hama A, Fucharoen G, Sanchaisuriya K

Centre for Research and Development of Medical Diagnostic, Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen 40002, Thailand. supan@kku.ac.th

OBJECTIVE: To establish a rapid differential diagnosis of hemoglobin (Hb) Queens and Hb Siam from other clinically relevant variants. DESIGN AND METHODS: Molecular and hematological features associated with two pregnant Thai women who were mistaken for Hb S were investigated. A simultaneous DNA diagnosis based on multiplex allele specific PCR approach was developed and tested with other common variants. RESULTS: Apart from mild anemia, the two subjects were generally healthy. DNA analysis identified that they were respectively carriers of Hb Siam [alpha15(A13)Gly-Arg] and Hb Queens [alpha34(B15)Leu-Arg]. A successful application of the multiplex allele specific PCR for differential diagnosis was demonstrated. CONCLUSION: Diagnosis of these clinically relevant hemoglobinopathies is problematic in the routine setting, and the method developed should prove useful in complementing routine Hb analysis for providing accurate diagnosis.

Published 3 January 2007 in Clin Biochem, 40(1): 137-40.
Full-text of this article is available online (may require subscription).

© 2006-2008 Sickle Cell Anemia Research Today. All Rights Reserved.