The polymerase chain reaction technique combined with restriction map analysis with Msp I and hybridization with synthetic oligonucleotide probes has been used to identify Hb Quong Sze [alpha 125(H8)Leu----Pro] in a Chinese family in Guangxi (Quong Sze), P. R. China. Our data and those described in an earlier publication (1) indicate that the Hb Quong Sze carriers originate from the same province of the People's Republic of China, namely Guangxi.
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A rare case of compound heterozygous Southeast Asian double α-globin gene deletion and Haemoglobin Quong Sze in a Malay proband.
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Haematology Unit, Cancer Research Centre, Institute for Medical Research, National Institutes of Health, 40170 Shah Alam, Selangor, Malaysia.
Introduction: Haemoglobin (Hb) Quong Sze is a non-deletional α-thalassaemia subtype that occurs due to missense mutation at codon 125 of the HBA2 gene. Interaction between Hb QS with Southeast Asian double α-globin gene deletion results in non-deletional HbH disease, which is more severe than deletional HbH.
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Case report: Prenatal diagnosis in the fetus of a couple with both thalassemia and deafness genes.
Front Genet
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Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China.
Prenatal diagnosis and genetic counseling play an important role in preventing and controlling birth defects. No reports were found of prenatal diagnosis of couples carrying both the thalassemia and deafness genes. In this study, we presented the prenatal screening and diagnosis of a couple with both thalassemia and deafness genes, contributing to better genetic counseling.
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Taiwan J Obstet Gynecol
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Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Guangdong, China. Electronic address:
Objective: Hemoglobin Quong Sze (Hb QS) is one of the most common non-deletional α-thalassemia (α-thal), which is prevalent in the Southern Chinese population. However, there are still few comprehensive researches on the molecular characterization of Hb QS. So it is important to find out appropriate diagnosis and characterization of Hb QS carrier for genetic counseling.
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Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, People's Republic of China.
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