First Report of a Case with Nondeletional Hb H Disease Caused by IVS-I-116 (A>G) of the α2-Globin Gene

被引：2
作者：
He, Xiao-Hong [1 ]
Zhang, Rui [1 ]
Mai, Guang-Xing [1 ]
Ren, Li-Rong [2 ]
Li, Dong-Zhi [3 ]
机构：
[1] Shenzhen Baoan Maternal & Child Hlth Hosp, Prenatal Diag Unit, Shenzhen, Guangdong, Peoples R China
[2] Shenzhen Baoan Tradit Chinese Med Hosp, Dept Obstet, Shenzhen, Guangdong, Peoples R China
[3] Guangzhou Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Childrens Med Ctr, Guangzhou, Guangdong, Peoples R China
来源：
HEMOGLOBIN | 2018年 / 42卷 / 5-6期
基金：
中国国家自然科学基金;
关键词：
alpha-Thalassemia (alpha-thal); fetal anemia; nondeletional Hb H disease; THALASSEMIA; MUTATION; DELETION;
D O I：
10.1080/03630269.2018.1556684
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：
In this report, we describe a prenatal case with cardiomegaly and increased middle cerebral artery-peak systolic velocity (MCA-PSV) at 22 weeks' gestation. Fetal blood sampling revealed moderate anemia (Hb 7.4 g/dL) and increased Hb Bart's (gamma 4) level (28.2%), indicative of Hb H (beta 4) disease. Molecular analysis of the family members revealed that the pregnant woman carried a heterozygous IVS-I-116 (A>G) (HBA2: c.96-2A>G) mutation of alpha 2-globin gene, and the fetus was a compound heterozygote for IVS-I-116 and the Southeast Asian (- -(SEA)) deletion. This is the first reported case of nondeletional Hb H disease caused by the IVS-I-116 (A>G) mutation associated with fetal anemia identified by ultrasound.
引用
收藏
页码：344 / 346
页数：3
相关论文
共 8 条
[1]   NOVEL MUTATIONS RESPONSIBLE FOR α-THALASSEMIA IN IRANIAN FAMILIES [J].
Bayat, Nooshin ;
Farashi, Samaneh ;
Hafezi-Nejad, Nima ;
Faramarzi, Negin ;
Ashki, Mehri ;
Vakili, Shadi ;
Imanian, Hashem ;
Khosravi, Mohsen ;
Azar-Keivan, Azita ;
Najmabadi, Hossein .
HEMOGLOBIN, 2013, 37 (02) :148-159
[2]   An IVS1-116 (A->G) acceptor splice site mutation in the alpha(2) globin gene causing alpha(+) thalassaemia in two Dutch families [J].
Harteveld, CL ;
Heister, JGAM ;
Giordano, PC ;
Batelaan, D ;
vonDelft, P ;
Haak, HL .
BRITISH JOURNAL OF HAEMATOLOGY, 1996, 95 (03) :461-466
[3]   The Dutch IVS-I-116 (A→G) (α2) Thalassemia mutation induces Hb H inclusion bodies when found in combination with the -α3.7 deletion defect [J].
Harteveld, CL ;
Van Lom, K ;
Garcia, EBG ;
van Delft, P ;
Giordano, PC .
HEMOGLOBIN, 2003, 27 (01) :49-51
[4]   Molecular prenatal diagnosis of Hb H Hydrops Fetalis caused by haemoglobin Adana and the implications to antenatal screening for α-thalassaemia [J].
Henderson, S. ;
Pitman, M. ;
McCarthy, J. ;
Molyneux, A. ;
Old, J. .
PRENATAL DIAGNOSIS, 2008, 28 (09) :859-861
[5]   Hemoglobin H hydrops fetalis syndrome resulting from the association of the --SEA deletion and the αQuong Szeα mutation in a Chinese woman [J].
Li, DZ ;
Liao, C ;
Li, J ;
Xie, XM ;
Huang, YN ;
Wu, QC .
EUROPEAN JOURNAL OF HAEMATOLOGY, 2005, 75 (03) :259-261
[6]   PHENOTYPIC VARIABILITY IN A CHINESE FAMILY WITH NONDELETIONAL Hb H-Hb QUONG SZE DISEASE [J].
Li, Jian ;
Liao, Can ;
Zhou, Jian-Ying ;
Xie, Xing-Mei ;
Li, Ru ;
Chen, Li-He ;
Li, Dong-Zhi .
HEMOGLOBIN, 2011, 35 (04) :430-433
[7]   Diversity in clinical presentation of hemoglobin H disease induced by the SEA deletion and the hemoglobin Quong Sze [J].
Liao, Can ;
Li, Jian ;
Xie, Xing-Mei ;
Zhou, Jian-Ying ;
Li, Dong-Zhi .
ANNALS OF HEMATOLOGY, 2009, 88 (11) :1145-1147
[8]   Hydrops Fetalis Associated with Compound Heterozygosity for Hb Zurich-Albisrieden (HBA2: C.178G>C) and the Southeast Asian (- -SEA/) Deletion [J].
Yang, Xin ;
Yan, Jin-Mei ;
Li, Jian ;
Xie, Xing-Mei ;
Zhou, Jian-Ying ;
Li, Yan ;
Li, Dong-Zhi .
HEMOGLOBIN, 2016, 40 (05) :353-355
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