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Objectives: To explore the genotypic and phenotypic characteristics of HBB: c.316-146T > G carriers in China. Methods: The blood routine parameters and hemoglobin electrophoresis data of carriers were analyzed using PCR combined with reverse dot blot (RDB), gap-PCR, and DNA sequencing. Results: The blood routine parameters of all these three cases were MCV < 82fl and MCH < 27pg, and hemoglobin electrophoresis showed HbA2 ≥ 4.60%. Genetic testing results: two cases were heterozygous mutations of HBB:c.316-146T > G, the other one was heterozygous mutation of HBB:c.316-146T > G combined with –SEA deletion. Conclusion: The hematological phenotype of HBB:c.316-146T > G mutation carriers is similar to that of common β+ heterozygous mutations, presenting with hypochromic, microcytic red cell indices. If the hematological phenotype does not match the results of genetic testing, further detection techniques such as Sanger sequencing, MLPA, next-generation sequencing (NGS), etc. are required to avoid missing rare or novel mutation types. [ABSTRACT FROM AUTHOR]

Objective: To summarize and analyze the clinical characteristics of the Hb Phnom Penh (HBA1:c.354_355insATC) variant in the Chinese population, and to guide clinical diagnosis and genetic counseling for hemoglobin disorders. Methods: Peripheral blood samples were collected from patients, and hematological parameters, hemoglobin electrophoresis, and glycated hemoglobin chromatography were analyzed. PCR combined with reverse dot blot hybridization (RDB), nested PCR, gap polymerase chain reaction (Gap-PCR), Sanger sequencing, and third-generation sequencing (TGS) were performed to determine the gene variant. Results: A total of 20 cases were examined, which included 11 neonates, 5 infants aged from 1 month to 6 months, and 4 adults. Hb Bart's band was measured in 14 infants. Thirteen infants (9 neonates and 4 infants of 1 month old) showed low levels of Hb Bart's bands (<1%), while one newborn exhibited a significantly elevated level of the Hb Bart's band (13.8%). Two adult patients were tested for glycated hemoglobin and had high levels at 7.0% and 7.2%, respectively, despite having normal blood glucose levels and no history of diabetes, indicating the presence of abnormal hemoglobin. Genetic testing confirmed that all 20 cases carried the HBA1:c.354_355insATC mutation, with one case being a compound mutation of – SEA/ααPhnom Penh. Conclusion: The HBA1:c.354_355insATC mutation leads to the production of abnormal hemoglobin (Hb Phnom Penh). Infants may exhibit low levels of Hb Bart's bands on hemoglobin electrophoresis, which have no salient pathological significance. The detection of abnormal HbA1c values suggests that this abnormal haemoglobin may be present. [ABSTRACT FROM AUTHOR]

Objective: To analyze the hematological phenotype and genotype of HbA2: c.96-2A > G carriers. Methods: The blood routine parameters and hemoglobin electrophoresis of rare cases were analyzed and identified by PCR combined with reverse dot blot (RBD-PCR), GAP-PCR and DNA sequencing. Results: Among the 7 patients, one adult patient had normal hemoglobin levels, with slightly decreased mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH). Hb Bart's band was found in 6 neonates by hemoglobin electrophoresis, of which the content of Hb Bart's band in 1 neonate was 15.80%, and the content of Hb Bart's band in the other 5 neonates was 0.30%–0.90%. The results of genetic analysis showed that all the 7 patients had HbA2: c.96-2A > G (IVS-I-116A > G) mutation, in which 1 case was compounded with – SEA deletion. Conclusion: HbA2: c.96-2A > G mutation carriers exhibit the phenotype of α-thalassemia, and when the HbA2:c.96-2A > G mutation is combined with – SEA deletion, an intermediate phenotype of anemia is produced. [ABSTRACT FROM AUTHOR]

Objective: The α-globin fusion gene between the HBA2 and HBAP1 genes, is clinically important in thalassemia screening because this fusion gene can cause severe hemoglobin (Hb) H disease when combined with α0 -thalassemia (α0 -thal). In this study, we evaluate the red blood cell parameters of α-thalassemia fusion gene in southern China. Method: Study samples suspected of α-thalassemia fusion gene were collected and confirmed by PCR-sequencing from one medical lab center in southern China. Their genotypes and phenotypes were analyzed. Results: A total of 266 cases of α-thalassemia fusion gene were confirmed in our lab from 2017 to 2023, most of them were from Hainan province (169 cases) and Huadu district of Guangzhou (21 cases), the nationality of 143 cases from Hainan was identified, with 71.3% (102/143) being from the Li minority. The Hb, MCV, MCH for αα/(αα)fusion in adult males were 143.5±11.83g/L, 81.51±4.39 fl, and 26.26±1.29 pg, respectively; and in females, they were 126.69±12.89 g/L, 80.10±4.05 fl, 25.8±2.04 pg, respectively. All 12 cases (αα) Fusion/ --SEA showed anemia with decreased Hb, MCV and MCH. Conclusion: The carriers of α-globin fusion gene heterozygotes are clinically silent and exhibit an α+ phenotype. Individuals with (αα)Fusion/--SEA show apparent anemia. This α-globin fusion gene is relatively common in southern China, specifically among the Li minority of Hainan province. Therefore, it should be taken into account for genetic counseling purposes. [ABSTRACT FROM AUTHOR]

* Context.--The pandemic of a novel coronavirus, termed severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has created an unprecedented global health burden. Objective.--To investigate the effect of the SARS-CoV-2 infection on maternal, fetal, and neonatal morbidity and other poor obstetrical outcomes. Design.--All suspected cases of pregnant women with coronavirus disease 2019 (COVID-19) admitted into one center in Wuhan from January 20 to March 19, 2020, were included. Detailed clinical data of those pregnancies with COVID-19 were retrospectively collected and analyzed. Results.--Twenty-seven pregnant women (4 early pregnancies included) with laboratory or clinically confirmed SARS-CoV-2 infection and 24 neonates born to the 23 women in late pregnancy were analyzed. On admission, 46.2% (13 of 27) of the patients had symptoms, including fever (11 of 27), cough (9 of 27), and vomiting (1 of 27). Decreased total lymphocytes count was observed in 81.5% (22 of 27) of patients. Twenty-six patients showed typical viral pneumonia by chest computed tomography scan, whereas 1 patient confirmed with COVID-19 infection showed no abnormality on chest computed tomography. One mother developed severe pneumonia 3 days after her delivery. No maternal or perinatal death occurred. Moreover, 1 early preterm newborn born to a mother with the complication of premature rupture of fetal membranes, highly suspected to have SARS-CoV-2 infection, was SARS-CoV-2 negative after repeated real-time reverse transcriptase polymerase chain reaction testing. Statistical differences were observed between the groups of women in early and late pregnancy with COVID-19 in the occurrence of lymphopenia and thrombocytopenia. Conclusions.--No major complications were reported among the studied cohort, though 1 serious case and 1 perinatal infection were observed. Much effort should be made to reduce the pathogenic effect of COVID-19 infection in pregnancies., In December 2019, a series of pneumonia cases of unknown cause was reported in Wuhan, Hubei, China. (1) Soon after the report, deep sequencing analysis indicated that a novel betacoronavirus, [...]