First Report of a Chinese Family Carrying a Double Heterozygosity for Hb Q-Thailand and Hb J-Bangkok

被引：8

作者：

Jiang, Fan ^{[1
,2
]}

Zhou, Jian-Ying ^{[1
,2
]}

Yan, Jin-Mei ^{[1
,2
]}

Lu, Yue-Cheng ^{[1
,2
]}

Li, Dong-Zhi ^{[1
,2
]}

机构：

[1] Guangzhou Med Univ, Guangzhou Women & Children Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R China

[2] Guangzhou Med Univ, Guangzhou Women & Children Med Ctr, Dept Obstet & Gynecol, Guangzhou, Guangdong, Peoples R China

来源：

HEMOGLOBIN | 2016年 / 40卷 / 06期

关键词：

Capillary electrophoresis (CE); double heterozygous state; Hb J-Bangkok; Hb Q-Thailand; HEMOGLOBIN-VARIANTS; THALASSEMIA;

D O I：

10.1080/03630269.2016.1274660

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The double heterozygosity for alpha and beta chain variants leads to the formation of abnormal heterodimer hybrids, which could render laboratory diagnostics in a routine setting difficult. The following is the first report of a double heterozygosity for Hb Q-Thailand [alpha 74(EF3) Asp -> His; HBA1: c. 223G> C] with alpha(+) thalassemia (alpha(+) thal) and Hb J- Bangkok [beta 56(D7) Gly -> Asp; HBB: c. 170G> A] found in a Chinese family. Both subjects were healthy with normal or borderline hematological parameters. Hemoglobin (Hb) analyses showed a novel variant, Hb Q- Thailand and Hb J- Bangkok. Family studies helped in the initial recognition and in making presumptive diagnoses, but definitive diagnoses of these cases with complex a and b chain variants could only be obtained after DNA analysis.

引用

页码：425 / 427

页数：3

共 8 条

[1] Presumptive diagnosis of common haemoglobinopathies in Southeast Asia using a capillary electrophoresis system [J].

Fucharoen, G. ;

Srivorakun, H. ;

Singsanan, S. ;

Fucharoen, S. .

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2011, 33 (04) :424-433

[2] Updates of the HbVar database of human hemoglobin variants and thalassemia mutations [J].

Giardine, Belinda ;

Borg, Joseph ;

Viennas, Emmanouil ;

Pavlidis, Cristiana ;

Moradkhani, Kamran ;

Joly, Philippe ;

Bartsakoulia, Marina ;

Riemer, Cathy ;

Miller, Webb ;

Tzimas, Giannis ;

Wajcman, Henri ;

Hardison, Ross C. ;

Patrinos, George P. .

NUCLEIC ACIDS RESEARCH, 2014, 42 (D1) :D1063-D1069

[3] HEMOGLOBIN-J BANGKOK (BETA-56 [D7]GLY-]ASP) - A HEMOGLOBIN-VARIANT DISCOVERED BY THE HEMOGLOBINOPATHY SURVEY IN TAKAMATSU DISTRICT [J].

IUCHI, I ;

SHIMASAKI, S ;

HIDAKA, K ;

UEDA, S ;

HARANO, T ;

SHIBATA, S ;

MIZUSHIMA, J ;

OHNISHI, Y .

HEMOGLOBIN, 1981, 5 (02) :199-204

[4] Clinical phenotype of haemoglobin Q-H disease [J].

Leung, KFS ;

Ma, ESK ;

Chan, AYY ;

Chan, LC .

JOURNAL OF CLINICAL PATHOLOGY, 2004, 57 (01) :81-82

[5] Prevalence and Molecular Characterization of Structural Hemoglobin Variants in the Dongguan Region of Guangdong Province, Southern China [J].

Lou, Ji-Wu ;

Wang, Ting ;

Liu, Yan-Hui ;

He, Yi ;

Zhong, Bai-Mao ;

Liu, Jian-Xin ;

Zhao, Ying ;

Ye, Wan-Ling ;

Li, Dong-Zhi .

HEMOGLOBIN, 2014, 38 (04) :282-286

[6] Hemoglobin Q-Thailand and its Combinations with other Forms of Thalassemia or Hemoglobinopathies in Northern Thailand [J].

Panyasai, Sitthichai ;

Pornprasert, Sakorn .

CLINICAL LABORATORY, 2014, 60 (07) :1099-1103

[7] Five Hemoglobin Variants in a Double Heterozygote for α- and β-Globin Chain Defects [J].

Singha, Kritsada ;

Fucharoen, Goonnapa ;

Fucharoen, Supan .

ACTA HAEMATOLOGICA, 2014, 131 (02) :71-75

[8] A comprehensive analysis of hemoglobin variants by high-performance liquid chromatography (HPLC) [J].

Szuberski, J. ;

Oliveira, J. L. ;

Hoyer, J. D. .

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2012, 34 (06) :594-604

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