Screening and molecular diagnosis for abnormal hemoglobin

doi:10.3969/j.issn.1673-8640.2016.01.005

Abstract

Abstract:

Objective To screen abnormal hemoglobin（Hb） by high performance liquid chromatography（HPLC）and identify it by molecular diagnosis. Methods Abnormal Hb was detected by HPLC in 6 297 samples and identified by Sanger DNA sequencing. Results A total of 7 types of abnormal Hb were found,including Hb E（37 cases）,Hb Q（18 cases,notably 3 cases of Hb Q-Hb H）,Hb S（2 cases）,Hb C（2 cases）,Hb D-Iran（3 cases）,Hb J-Bangkok（8 cases） and Hb J-Mexico（2 cases）. Hb E,Hb Q,Hb C and Hb J-Bangkok were identified by DNA sequencing,however,1 of 2 cases of Hb S was Hb S homozygote,and another was Hb G-Makassar. The 3 cases of Hb D-Iran were diagnosed as Hb G-Taipei（2 cases） and Hb G-Coushatta（1 case）. The 2 cases of Hb J-Mexico were validated as Hb Ube-2. Conclusions Though abnormal Hb can be rapidly detected by HPLC,hypothetical diagnosis can be performed,and the final diagnosis should be based on molecular biology analysis.

Key words: Abnormal hemoglobin, High performance liquid chromatography, DNA sequencing, Screening, Molecular diagnosis

CLC Number:

R446.11

XIE Jianhong, WANG Guoqing, XIAO Qizhi, ZHANG Yongliang, ZHOU Yuqiu, HU Liqing. Screening and molecular diagnosis for abnormal hemoglobin[J]. Laboratory Medicine, 2016, 31(1): 22-25.

Figures/Tables 6

References 8

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引物名称	引物序列（5'-3'）	异常Hb	退火温度（℃）
F1	TGT TCC TGT CCT TCC CCA CC	Hb Q	62
R1	TCG ACC CAG ATC GCT CCC	Hb J-Mexico
F2	AGA GCC ATC TAT TGC TTA CA	Hb C、Hb S	58
R2	AGA CCA CCA GCA GCC TAA	Hb D-Iran、Hb E
F3	CTT AGG CTG CTG GTG GTC	Hb J-Bangkok	62
R3	GTG CCC TTG AGG TTG TCC

引物名称	引物序列（5'-3'）	异常Hb	退火温度（℃）
F1	TGT TCC TGT CCT TCC CCA CC	Hb Q	62
R1	TCG ACC CAG ATC GCT CCC	Hb J-Mexico
F2	AGA GCC ATC TAT TGC TTA CA	Hb C、Hb S	58
R2	AGA CCA CCA GCA GCC TAA	Hb D-Iran、Hb E
F3	CTT AGG CTG CTG GTG GTC	Hb J-Bangkok	62
R3	GTG CCC TTG AGG TTG TCC

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