Clinical biochemistry · 2006
Rapid molecular characterization of Hb Queens and Hb Siam: two variants easily misidentified as sickle Hb.
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Fucharoen Supan, Singsanan Sanita, Hama Abdulloh, Fucharoen Goonnapa, Sanchaisuriya Kanokwan
Аннотация
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.
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.