Rapid molecular characterization of Hb Queens and Hb Siam: two variants easily misidentified as sickle Hb
- PMID: 17014836
- DOI: 10.1016/j.clinbiochem.2006.08.008
Rapid molecular characterization of Hb Queens and Hb Siam: two variants easily misidentified as sickle Hb
Abstract
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.
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