High accuracy of single-molecule real-time sequencing in detecting a rare α-globin fusion gene in carrier screening population.

Introduction: The α-globin fusion gene between the HBA2 and HBAP1 genes becomes clinically important in thalassemia screening because this fusion gene can cause severe hemoglobin (Hb) H disease when combining with α -thalassemia (α -thal). Due to its uncommon rearrangement in the α gene cluster without dosage changes, this fusion gene is undetectable by common molecular testing approaches used for α-thal diagnosis.

Methods: In this study, we used the single-molecule real-time (SMRT) sequencing technique to detect this fusion gene in 23 carriers identified by next-generation sequencing (NGS) among 16,504 screened individuals.

[Correlation of age, body mass index and obesity-related biochemical indexes with semen quality in males intending for a second child].

Objective: To explore the influence of age, body mass index (BMI) and obesity-related biochemical indexes on semen quality in adult males intending to have a second child in Guangzhou.

Methods: We conducted a questionnaire investigation among 632 adult males seeking medical advice on their intention for a second child at Guangzhou Women and Children's Medical Center from August 2017 to July 2018. We obtained their lipid metabolism indicators and semen parameters, and analyzed the correlation of semen quality with age, BMI, obesity-related biochemical indexes, living environment and occupation.

KFL1 Gene Variants in α-Thalassemia Individuals with Increased Fetal Hemoglobin in a Chinese Population.

Krüppel-like factor 1 (KLF1) is a pleiotropic erythroid transcription factor that is a regulator of definitive erythropoiesis. The aim of this study was to detect KLF1 gene variants in α-thalassemia (α-thal) carriers with an increased Hb F level in a Chinese population, and determine the changes of hematological parameters as a result of interactions between KLF1 gene mutations and α-thal. Subjects with α-thal and Hb F levels of ≥1.

[Screening Abnormal Hemoglobin Diseases for Couples of Childbearing Age in Guangzhou City by HPLC].

Objective: To investigate the incidence and common types of abnormal hemoglobin diseases of the couples at childbearing age by using high performance liquid chromatography (HPLC) in Guangzhou city.

Methods: The couple of childbearing age in the Birth defect intervention project and Free pre pregnancy health examination were screened from October 2008 to February 2016 in Guangzhou city. The HPLC was used to detect abnormal hemoglobin; The Gap-PCR and reverse dot blot(RDB) were used to detect thalassemia gene deletions.

[Population intervention of thalassemia relying on family planning service system].

Objective: To set up thalassemia population intervention model in order to decrease the birth of thalassemia major, relying on population and family planning service system.

Methods: Pregnant women and their husbands were educated about thalassemia, and participated in screening and prenatal diagnosis if the couple were carriers of thalassemia in the areas of Huangpu, Panyu, Zengcheng and Tianhe districts of Guangzhou.

Results: The network of thalassemia intervention mainly dependent on family planning service system was set up in these regions.