Complex Interaction of Hb Q-Thailand with 0- and 0-Thalassemia in a Chinese Family

被引：2

作者：

He, Sheng ^{[1
]}

Qin, Qian ^{[2
]}

Lin, Li ^{[1
]}

Chen, Qiuli ^{[1
]}

Yi, Shang ^{[1
]}

Wei, Honhwei ^{[1
]}

Du, Juan ^{[1
]}

Zheng, Chenguang ^{[1
]}

Qiu, Xiaoxia ^{[1
]}

Chen, Biyan ^{[1
]}

机构：

[1] Guangxi Zhuang Autonomous Reg Women & Children Ca, Prenatal Diagnost Ctr, 59 Xiangzhu Rd, Nanning 530012, Peoples R China

[2] Baise Women & Children Care Hosp, Prenatal Diagnost Ctr, Baise, Guangxi, Peoples R China

来源：

HEMOGLOBIN | 2017年 / 41卷 / 01期

关键词：

(0)-Thalassemia ((0)-thal); (0)-thalassemia ((0)-thal); genetic counseling; hemoglobinopathies; Hb Q-Thailand; HEMOGLOBIN-VARIANTS; DOUBLE HETEROZYGOTE; BETA-THALASSEMIA; ALPHA(0)-THALASSEMIA; ASSOCIATION; DISEASE;

D O I：

10.1080/03630269.2017.1295985

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：

Hb Q-Thailand [74(EF3)AspHis (1); HBA1: c.223G>C] is an abnormal hemoglobin (Hb), variant found mainly in China and Southeast Asian countries. The association of the (Q)-Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report a hitherto undescribed condition of patients with a double heterozygosity for Hb Q-Thailand with (0)-thalassemia ((0)-thal) and in combination with (0)-thalassemia ((0)-thal) in a Chinese family. Our study will provide some clinical manifestations, laboratory diagnosis and genetic counseling for complex hemoglobinopathies.

引用

页码：68 / 72

页数：5

共 16 条

[1] Hb Cervantes, Hb Maranon, Hb La Mancha and Hb Goya: Description of 4 new haemoglobinopathies
De la Fuente-Gonzalo, Felix
Nieto, Jorge M.
Ricard, Pilar
Anguita, Javier
Martinez, Rosalina
Cervera, Aurea
Villegas, Ana
Gonzalez, Fernando A.
Ropero, Paloma
[J]. CLINICAL BIOCHEMISTRY, 2015, 48 (10-11) : 662 - 667
[2] Fais A, 2011, ISRN HEMATOL, V2011
[3] Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China
He, Sheng
Qin, Qian
Yi, Shang
Wei, Yuan
Lin, Li
Chen, Shaoke
Deng, Jianping
Xu, Xianmin
Zheng, Chenguang
Chen, Biyan
[J]. GENE, 2017, 619 : 71 - 75
[4] Clinical phenotype of haemoglobin Q-H disease
Leung, KFS
Ma, ESK
Chan, AYY
Chan, LC
[J]. JOURNAL OF CLINICAL PATHOLOGY, 2004, 57 (01) : 81 - 82
[5] ASSOCIATION OF β-THALASSEMIA AND Hb Q-THAILAND RESULTING IN A NORMAL Hb A2 VALUE
Liao, Can
Li, Jian
Li, Dongzhi
[J]. HEMOGLOBIN, 2008, 32 (05) : 505 - 508
[6] A double heterozygote for (δβ)0-thalassemia and codons 41/42 (-TTCT) behaves as a homozygote for the frameshift mutation in a Chinese family
Liao, Can
Feng, Qiong
Li, Jian
Huang, Yining
Li, Dongzhi
[J]. HEMOGLOBIN, 2007, 31 (03) : 397 - 400
[7] Prevalence and molecular characterization of abnormal hemoglobin in eastern Guangdong of southern China
Lin, M.
Wang, Q.
Zheng, L.
Huang, Y.
Lin, F.
Lin, C. P.
Yang, L. Y.
[J]. CLINICAL GENETICS, 2012, 81 (02) : 165 - 171
[8] Prevalence and Molecular Characterization of Structural Hemoglobin Variants in the Dongguan Region of Guangdong Province, Southern China
Lou, Ji-Wu
Wang, Ting
Liu, Yan-Hui
He, Yi
Zhong, Bai-Mao
Liu, Jian-Xin
Zhao, Ying
Ye, Wan-Ling
Li, Dong-Zhi
[J]. HEMOGLOBIN, 2014, 38 (04) : 282 - 286
[9] Hemoglobin Q-Thailand and its Combinations with other Forms of Thalassemia or Hemoglobinopathies in Northern Thailand
Panyasai, Sitthichai
Pornprasert, Sakorn
[J]. CLINICAL LABORATORY, 2014, 60 (07) : 1099 - 1103
[10] A novel α0-thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait
Phylipsen, Marion
Traeger-Synodinos, Jan
van der Kraan, Martijn
van Delft, Peter
Bakker, Greet
Geerts, Mariska
Kanavakis, Emmanuel
Stamoulakatou, Alexandra
Karagiorga, Markissia
Giordano, Piero C.
Harteveld, Cornelis L.
[J]. EUROPEAN JOURNAL OF HAEMATOLOGY, 2012, 88 (04) : 356 - 362

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