A Novel Frameshift Mutation(HBA2:C.337delC) Associated With α-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China.

Here, we report a novel frameshift mutation caused by a single base deletion in exon 3 of the HBA2 gene (HBA2:c.337delC) detected by next-generation sequencing. The proband was a 26-year-old Chinese pregnant woman who originates from Hunan Province. Her mean corpuscular volume(MCV) and mean corpuscular hemoglobin (MCH) had a mild decrease. Capillary electrophoresis (CE) showed that both Hb A (97.8%) and Hb F (0.0%) values were within normal range, while the Hb A2 (2.2%) value was below normal. Sequence analysis of the α and ß-globin genes revealed a novel single base deletion at codon 112 (HBA2:c.337delC) in the heterozygous state, which resulted in a mild phenotype of α-thalassemia.

Trimester-specific reference intervals of hemostasis biomarkers for healthy pregnancy.

Physiological changes in hemostasis during pregnancy have been reported by several authors. This study aimed at establishing reference intervals for the hemostasis biomarkers thrombin-antithrombin complex (TAT), α2-plasmininhibitor-plasmin complex (PIC), thrombomodulin (TM) and tissue plasminogen activator-inhibitor complex (tPAI-C), in healthy pregnancies. After excluding outliers, a total of 496 healthy pregnant women (128 first-trimester, 142 second-trimester, 107 third-trimester and 119 pre-labor) and 103 healthy nonpregnant women were enrolled from Shenzhen Bao'an Women's and Children's Hospital. Hemostasis biomarkers, TAT, PIC, TM and tPAI-C, were measured by using a quantitative chemiluminescence enzyme immunoassay performed on HISCL automated analysers. The median and reference intervals (the 2.5th and 97.5th percentiles) were calculated to establish trimester-specific reference intervals for healthy pregnant women. The reference intervals for TAT, PIC, TM and tPAI-C in the first trimester were 0.7-7.6 1 µg/L, 0.2-0.9 mg/L, 2.8-11.0 TU/ml, and 1.2-6.5 1 µg/L, respectively. The reference intervals in the second trimester were 1.7-12.0 1 µg/L, 0.2-1.0 mg/L, 3.7-11.6 TU/ml, and 2.8-8.8 1 µg/L, respectively. The reference intervals in the third trimester were 2.7-16.1 1 µg/L, 0.1-1.4 mg/L, 2.9-12.9 TU/ml, and 1.9-8.0 1 µg/L, respectively. At pre-labor, the reference intervals were 4.8-32.9 1 µg/L, 0.2-1.9 mg/L, 4.2-12.6 TU/ml, and 2.8-15.4 1 µg/L, respectively. Gestational reference intervals for TAT, PIC, TM and tPAI-C in healthy pregnancies are provided, but only for TAT with increasing concentrations throughout pregnancy, the reference intervals for non-pregnant were not applicable.

[Influencing factors for lymphocyte subsets in children aged 0-6 years].

OBJECTIVE: To investigate the influencing factors for lymphocyte subsets in children 0 to 6 years of age. METHODS: Umbilical artery blood samples from 45 healthy full-term infants and venous blood samples from 79 healthy children between 0 and 6 years were collected. According to the methods of delivery, the full-term infants were divided into vaginal delivery group (n=22) and cesarean section group (n=23). Healthy children were divided into different age groups: 28 days to 12 months (n=25), 1-3 years (n=26), and 3-6 years (n=28). Lymphocyte subsets were examined by flow cytometry. The influencing factors including delivery method, sex, and age, which might have an effect on the lymphocyte subsets, were analyzed. RESULTS: There were significant differences in T and Ts cell counts, percentage of B cells, and percentage and count of natural killer (NK) cells between the full-term infants of vaginal delivery and cesarean section (P<0.05). The absolute counts and percentages of different lymphocyte subsets showed no significant differences between males and females in healthy children (P>0.05). The counts of all lymphocyte subsets except Ts and NK cells varied significantly between different age groups (P<0.05). CONCLUSIONS: Lymphocyte subsets in children under 6 years of age are more profoundly affected by age. Delivery method is also a contributing factor in newborn infants. The reference range of lymphocyte subsets in children should be established for different age groups.