糖化血红蛋白水平在预测妊娠期糖尿病孕妇生产结局中的价值分析

目的探讨糖化血红蛋白(glucosylated hemoglobin,HbAlc)水平在预测妊娠期糖尿病(gestational diabetes mellitus,GDM)孕妇生产结局中的价值。方法将2014年6月至2015年12月在四川省眉山市妇幼保健院进行产前检查并在该院分娩的146例GDM孕妇,按照分娩前HbAlc水平控制情况将其分为控制组86例、未控制组60例,另外选取同期HbAlc水平正常的产妇60例作为对照组,对比分析3组产妇妊娠结局。结果未控制组妊娠期高血压疾病、胎膜早破、羊水过多、剖宫产率、羊水粪染、早产、胎儿宫内窘迫、新生儿窒息和巨大儿发生率明显高于控制组和对照组(P0.05),控制组和对照组比较差异无统计学意义(P0.05)。结论 HbAlc水平对GDM孕妇的妊娠结局有较好的预测作用,可将HbAlc水平作为孕妇血糖控制情况的重要监测指标。     

Hb Alesha [β67(E11)Val→Met (GTG>ATG); HBB: c.202G > A] Found in a Chinese Girl

Mutations that cause destabilization of the hemoglobin (Hb) tetramer are a rare cause of hemolytic anemia. In contrast to the hemolytic anemia caused by enzyme deficiencies, a dominant mode of inheritance characterizes the unstable Hbs. Hb Alesha [β67(E11)Val→Met; HBB: c.202G>A] is caused by a G>A mutation at codon 67 of the β-globin gene, resulting in a valine to methionine substitution at helix E11. This replacement disrupts the apolar bonds between valine and the heme group, producing an unstable Hb and severe hemolysis. We report this rare hemoglobinopathy in a Chinese girl with severe hemolytic anemia, splenomegaly and frequent requirement for red blood cell (RBC) transfusions.     

Genetic therapies for sickle cell disease

After decades with few novel therapeutic options for sickle cell disease (SCD), autologous hematopoietic stem cell (HSC) based genetic therapies including lentiviral gene therapy (GT), and genome editing (GE) now appear imminent. Lentiviral GT has advanced considerably in the past decade with promising clinical trial results in multiple disorders. For β-hemoglobinopathies, GT strategies of gene addition and fetal hemoglobin induction through BCL11A regulation are both being evaluated in open clinical trials. GE techniques offer the possibility of a nonviral curative approach, either through sickle hemoglobin mutation repair or fetal hemoglobin elevation. Although GE currently remains at the preclinical stage, multiple clinical trials will likely open soon. In addition to reviewing current strategies for GT and GE, this review highlights important next steps toward optimization of these therapies. All autologous cell-based genetic therapies rely on safely obtaining an adequate yield of autologous HSCs for genetic modification and transplantation. HSC collection is uniquely challenging in SCD. Peripheral mobilization with plerixafor has recently emerged as a promising approach. The acute and long-term toxicities associated with myeloablative conditioning are risks that may not be acceptable to a significant number of SCD patients, highlighting the need for novel conditioning regimens. Finally, increasing availability of autologous genetic therapies will require comprehensive and collaborative discussions regarding cost and access for SCD patients, at individual centers and worldwide.     

Symptomatic Erythrocytosis Due to Homozygosity for Hb Luton [HBA2: c.269A>T (or HBA1)] and α-Thalassemia: A Clinical Update

A female proband homozygous for both Hb Luton [α89(FG1)His→Leu (CAC>CTC), HBA2: c.269A>T (or HBA1)], a high oxygen affinity hemoglobin (Hb), and for α⁺-thalassemia (α-thal), (–α^4.2, leftward deletion) was first described in 2012. This is a follow-up report of the same case. At the age of 18, the described patient presented with progressively worsening lethargy, headaches, dizziness, syncope and Raynaud’s phenomenon. Following extensive cardiological and neurological investigation, it was felt that significant erythrocytosis was the most likely cause. Venesection followed by regular exchange transfusions were arranged with marked amelioration in symptomatology. In the vast majority of cases of high oxygen affinity Hbs, venesection is not recommended due to the asymptomatic phenotype and reduced oxygen delivery resulting from venesection. This update describes the evolving phenotype of this unique proband and, to the best of our knowledge, the first use of regular, long-term therapeutic red cell exchange transfusions in a case of high affinity Hb.     

HBB: c.316-125A>G and HBB: c.316-42delC: Phenotypic Evaluations of Two Rare Changes in the Second Intron of the HBB Gene

We report two very rare changes in the second intron of the HBB gene, a substitution at nucleotide (nt) 726 [IVS-II-726 (A>G) (β⁺), NM_000518, HBB: c.316-125A>G] and a deletion of a cytosine at nt 809 [IVS-II-809 (–C) (β), NM_000518, HBB: c.316-42delC] identified during the screening program for hemoglobinopathies in the resident Sicilian population. The purpose of this study was to evaluate the clinical implication of these rare changes, particularly in coinheritance with known mutations in the globin clusters, in order to conduct an appropriate genetic counseling for at-risk couples. Molecular analysis detected the first rare nt substitution in two cases in simple heterozygosity and in two cases in association with other known mutations on globin genes, while the deletion was identified in a pregnant woman, carrier of β-thal, and in her fetus at prenatal diagnosis (PND) for hemoglobinopathies. The present study emphasizes the importance of sharing the observed changes in the globin gene cluster, especially in the case of new or rare undefined mutations, in order to facilitate the determination of their phenotypic expression and possible interactions with known molecular defects.     

糖尿病行血清C肽与糖化血红蛋白联合检验的临床价值研究

〔摘 要〕 目的：探讨对糖尿病患者实施血清 C 肽、糖化血红蛋白联合检验的临床价值。方法：选取 2019 年 5 月至 2020 年 5 月阳春市人民医院收治的糖尿病患者 120 例作为观察组，另选取同期健康体检者 120 例作为对照组，所选研究对 象均通过 TOSOHHLC–723G8 型全自动糖化血红蛋白分析仪和西门子全自动化学发光分析仪 Siemens ADVIA Centaur XP 实 施糖化血红蛋白和血清 C 肽水平检验，比较两组的检验结果。结果：相较于对照组健康体检者，观察组患者的糖化血红蛋 白水平明显更高，血清 C 肽明显更低，组间比较，差异均具有统计学意义（P ＜ 0.05）。结论：联合检验血清 C 肽和糖化 血红蛋白水平能够为糖尿病的早期诊断提供参考。     

Blood Typing Profile of a School-Aged Population of a North Togo Township

The aim of this study was the determination of hemoglobin (Hb) variants and ABO blood groups in a school population aged 6 to 9 years in the township of Agbandé-Yaka in North Togo. A cross-sectional study was carried out on 570 children of four primary schools at Agbande-Yaka, between March and July 2010. Hemoglobin characterization was done by alkaline buffer electrophoresis and the blood types ABO-Rhesus (Rh) D by immuno-hematological methods. A Hb variant was detected in 37.0% of the schoolchildren. Among them, the AS trait accounted for 11.9% and the AC trait for 20.2%. Homozygous Hb S (HBB: c.20A>T) was not found but Hb C (HBB: c.19G>A) appeared at a frequency of 3.3%, while compound heterozygotes carrying Hb SC were seen at a frequency of 1.6%. The O, B and A blood groups accounted for 49.0, 26.8 and 21.9%, respectively. The Hb anomalies reached a high prevalence in this school population. These results are remarkable by the absence of homozygous Hb S individuals compared to homozygous Hb C individuals, which were as numerous as expected. The frequencies of the ABO blood groups are similar to what has been found in other West African populations.     

Nutraceuticals use and type 2 diabetes mellitus

Type 2 diabetes mellitus (T2DM) is a complicated metabolic disease and has become one of the significant medical problems worldwide. Researchers aim to provide fine-tuned treatment for T2DM with minimal exposed side effects. Nutraceuticals are compounds or materials and emerging evidence suggests that the use of nutraceuticals has recently been recognized as a promising option for the prevention and management of T2DM, such as probiotics and prebiotics, Vitamin D, n-3 long-chain polyunsaturated fatty acids, and Plant-derived nutraceuticals. This review attempts to show the most popular nutraceuticals and review their effects and possible mechanisms in the prevention or glycemic control of T2DM.