Compound heterozygous hemochromatosis genotype predicts increased iron and erythrocyte indices in women

BACKGROUND: Women who inherit heterozygosity for the C282Y mutation of the HFE gene may have increased serum iron indices and hemoglobin and are less likely to develop iron deficiency compared with women with the wild-type genotype. METHODS: We performed a cross-sectional analysis of 497 women 20-44 years of age and 830 women >51 years of age drawn from the Busselton (Australia) population study to assess the effects of the HFE genotype on serum iron and hematology indices. RESULTS: Heterozygosity for the C282Y mutation occurred in 13.8% of the study population, comprising 11.8% C282Y wild-type heterozygotes and 2.0% C282Y/H63D compound heterozygotes. In the younger age group, C282Y wild-type women did not have significantly increased serum iron, transferrin saturation, or hemoglobin values, and were not protected from developing iron deficiency, compared with women of the same age with the wild-type genotype. Young compound heterozygous women had higher means for serum iron (25.0 vs 16.9 micromol/L; P <0.001), transferrin saturation (42.0% vs 25.6%; P <0. 05), hemoglobin (139.4 vs 132.3 g/L; P <0.05), and corpuscular volume (91.1 vs 87.7 fL; P <0.05), and a higher median ferritin (53 vs 44 microg/L; P <0.05) compared with the wild-type genotype. Similar results were observed for compound heterozygotes in the >51 years age group. CONCLUSIONS: Women with the compound heterozygous HFE genotype C282Y/H63D, but not the C282Y wild-type genotype, had increased values for serum iron and transferrin saturation, and the younger age group also had increased hemoglobin values. We conclude that the compound heterozygous genotype may have a beneficial effect in protecting women from iron deficiency.     

Peripheral intravenous cannulas for blood drawing: Nurses' views through content analysis

BackgroundPeripheral intravenous cannulas are commonly used for blood sampling. Conflicting evidence on the safety and reliability of blood sampling from peripheral intravenous cannulas provides little support to guide practice of clinicians.AimTo elicit views of nurses working in acute care of their opinions on the safety and efficacy of obtaining blood samples from peripheral intravenous cannulas.MethodsA cross-sectional electronic survey was utilised. Participants included nurses working in Australian acute care services nationally. The STROBE checklist was followed. The survey was distributed by two professional nursing bodies to their members between September and December 2017. Content analysis was used to analyse open-ended responses.FindingsOf the 338 participants who completed the survey, 269 provided comments. Themes supporting the use of peripheral intravenous cannulas for blood sampling included ‘efficiency’, ‘patient care’, ‘last resort’, and ‘other’. Reasons for not using a peripheral intravenous cannula for sampling provided themes of ‘PIVC use’, ‘dwell time’, ‘test type required’, ‘patency/insertion site care’, ‘preference’, and ‘other’.DiscussionThe choice regarding method of blood sampling is left to the discretion of individual practitioners. Diverse rationales were provided by respondents to support their practice in sampling blood. This may be influenced by variations in hospital policies and conflicting research evidence to support or refute the practice.ConclusionBlood sampling from peripheral intravenous cannulas or venepuncture is practiced differently between nurses based on multiple rationales. Research is needed to provide evidence for safe practice and support hospital policies.     

Peripheral blood parameters in patients with gastrointestinal tuberculosis

The hemograms of 38 patients with gastrointestinal tuberculosis (GIT) and of 47 patients with pulmonary tuberculosis variations were comparatively studied. Reliably valuable differences were registered in the frequency rate of deviations from the norm and in the mean values of hemograms' parameters of GIT patients, i.e. a more pronounced lower count of erythrocytes, hemoglobin and of monocyte-lymphocyte index as well as an accelerated ESR and a disassociation between the accelerated ESR and the normal leukocyte count.     

Decrease in erythrocyte glycophorin sialic acid content is associated with increased erythrocyte aggregation in human diabetes.

1. Sialic acid moieties of erythrocyte membrane glycoproteins are the principal determinants of the negative charge on the cell surface. The resultant electrostatic repulsion between the cells reduces erythrocyte aggregation and hence the low shear rate viscosity and yield stress of blood. 2. Using g.c.-m.s., a decrease in sialic acid content has been observed in the major erythrocyte membrane glycoprotein, glycophorin A, obtained from nine diabetic patients compared with that from seven normal control subjects [median (range): 3.30 (0.01-11.90) versus 18.60 (3.20-32.60) micrograms/100 micrograms of protein, P less than 0.02]. 3. Erythrocyte aggregation, measured by viscometry as the ratio of suspension viscosity to supernatant viscosity (LS/S) in fibrinogen solution, was increased in ten diabetic patients compared with ten normal control subjects (mean +/- SEM, 37.6 +/- 1.3 versus 33.8 +/- 0.6, P less than 0.02). 4. In the patients in whom both viscometry and carbohydrate analysis were performed, the decrease in erythrocyte glycophorin sialylation and the increase in erythrocyte aggregation in fibrinogen solution were related statistically (LS/S correlated negatively with glycophorin sialic acid content, r = 0.73, P less than 0.05). 5. Decreased glycophorin sialylation provides an explanation at the molecular level for increased erythrocyte aggregation and it may be important in the pathogenesis of vascular disease in diabetes.     

Magnetophoresis: II. quantification of iron and hemoglobin content at the single erythrocyte level

The iron and hemoglobin content of individual erythrocytes was determined using a method based on parallel velocity measurements during magnetophoresis and gravitational sedimentation of individual erythrocytes in suspension. In previous publications we have suggested employing cell magnetophoresis, a biophysical phenomenon characterized by cell movement in a fluid under magnetic field influence, for cytometry. The paramagnetic ferric iron in methemoglobin is used as a magnetic label. The iron content is estimated from the magnetophoresis velocity, and hemoglobin content from the gravitational sedimentation velocity of erythrocytes. Blood samples are also analyzed in a Coulter counter to determine their mean corpuscular hemoglobin. The time course of the reaction of methemoglobin reduction is quantified at the single erythrocyte level. The methemoglobin content in individual erythrocytes is determined following the oxidation reaction. Erythrocytes from patients with normo-, hypo-, or hyperchromic anemia exhibit magnetophoresis and gravitational sedimentation velocities that correlate closely with mean corpuscular hemoglobin. We propose the utilization of magnetophoretic cytometry for detailed diagnostic studies at the single erythrocyte level. Furthermore, the magnetophoresis velocity to gravitational sedimentation velocity ratio is proposed as a standard value for comparative study of magnetically labeled cells in future investigations, as it was found to be constant and independent of hemoglobin content.©1995 wiley-Liss, inc.     

血液贮存时间与红细胞内肌酸含量的关系

目的应用红细胞内肌酸的酶测定方法,观察人红细胞内肌酸在血液贮存期间的变化量及其与无偿献血次数的关系。方法分组测定不同无偿献血次数者及库存不同时间血液的红细胞内肌酸的含量。结果血液库存期间,红细胞内肌酸的变化范围为：0％～72．5％（4℃库存0～42d）、0％～51.8％（室温储存0～28d）。不同无偿献血次数的献血者红细胞内肌酸测定结果经方差分析,各组之间差异无显著性（P〉0．05）。结论红细胞内肌酸随血液库存时间延长红细胞衰老而降低,降低幅度与红细胞衰老程度呈正比,通过红细胞内肌酸降低的程度,可估计红细胞在库存期间的衰老变化程度;不同无偿献血次数的献血者红细胞内肌酸含量无明显差异,科学合理献血对献血者红细胞无影响。     

Human erythrocyte transketolase: no evidence for variants

Using isoelectric focusing of human erythrocyte transketolase, the isoenzyme pattern described recently (Kaczmarek and Nixon, 1983) was reexamined. Seven bands having pI values of 7.4-8.4 were common to the central part of the transketolase isoenzyme pattern in 63 healthy subjects investigated and were definitely reproduced, whereas four additional marginal bands (pI values of 7.2, 7.3, 8.6 and 8.8) were found with varying intensities in part of the samples and could not always be reproduced. We conclude that the method used does not permit the distinction of transketolase variants, that would allow to postulate a genetic polymorphism, based only on variation of the marginal bands of the pattern.     

Red blood cell phosphatidylserine exposure is responsible for increased erythrocyte adhesion to endothelium in central retinal vein occlusion

Summary. Background: Retinal vein occlusion (RVO) is a common cause of permanent loss of vision. The pathophysiology is uncertain, although enhanced erythrocyte aggregation and blood hyperviscosity have been observed. Increased red blood cell (RBC) adhesion has been associated with vascular complications in several diseases, such as sickle cell anemia, diabetes mellitus or polycythemia vera. Objectives: To measure RBC adhesion to endothelial cells in RVO and to explore the molecular basis of the adhesion process. Patients and methods: We assessed RBC adhesion to endothelial cells and adhesion molecule expression among 32 patients with RVO. Patients with disease known to alter RBC adhesion were excluded (n = 8), and further investigation was conducted in 20 patients with central retinal vein occlusion (CRVO) and four patients with retinal artery occlusion (RAO), compared with 25 normal subjects. Results: Under static conditions, adhesion of CRVO RBC was increased (135 ± 7 × 10² mm^?2) compared with RAO RBC (63 ± 5 × 10² mm^?2) (P < 0.01) and normal control RBC (37 ± 3 × 10² mm^?2) (P < 0.001). Under flow conditions, CRVO RBC adhered in greater numbers than normal RBC (P < 0.001). Phosphatidylserine (PS) expression on CRVO RBC was 2.4‐fold higher than controls and correlated with RBC adhesion (P = 0.001). In static conditions, specific antibodies against PS receptor and annexin V inhibited RBC adhesion. In flow conditions, the inhibitory effect was in the same range with antibodies but was 2‐fold higher with annexin V. Conclusion: Increased CRVO RBC adhesion is mediated by PS RBC and endothelial PS receptor. This phenomenon may be one of the factors responsible for CRVO.     

LDL oxidation is associated with increased blood hemoglobin A1c levels in diabetic patients

AIM: To investigate whether levels of blood HbA1c in diabetic patients are associated with susceptibility of LDL to oxidation. METHODS: LDL was separated from blood of 40 diabetic patients with known blood glucose and HbA1c levels. The tendency to undergo lipid peroxidation was assessed via lag time required for initiation of LDL oxidation. HbA1c formation was measured in vitro following incubation of red blood cell (RBC) hemolysate for 3 months with increasing concentrations of glucose in the absence or presence of LDL or oxidized LDL. RESULTS: Lag time for copper-induced LDL oxidation was twice as long in normal subjects compared to diabetic patients. Correlation analyses between LDL oxidation lag time and HbA1c blood levels revealed an R value of 0.74. Incubation of RBC hemolysate with high glucose concentration (up to 400 mg/dl) resulted in increased blood HbA1c concentration by up to 107%. Addition of LDL to this hemolysate over a period of 3 months resulted in LDL oxidation and an increase in HbA1c levels by up to 168%. Similarly, addition of oxidized LDL to the hemolysate increased HbA1c by up to 240%. CONCLUSIONS: Increased tendency of LDL to undergo lipid peroxidation in diabetic patients contributes to increased levels of blood HbA1c, mainly in those with HbA1c<7.3.     

新生儿脐带血红细胞相关参数及血红蛋白电泳结果分析

目的 了解梧州市新生儿α-珠蛋白生成障碍性贫血(简称地贫)的发生率,明确新生儿脐带血红细胞相关参数在筛查α-地贫中的意义.方法 选择2018年8月至2019年8月在梧州市中医医院出生的696例新生儿作为研究对象,对新生儿脐带血行血红蛋白(Hb)电泳和血常规检测,对区带进行扫描分析.根据电泳结果将其分为Hb Bart's阳性组和电泳正常组,分析Hb Bart's阳性组新生儿红细胞相关参数变化特点,采用受试者工作特征(ROC)曲线分析各参数对α-地贫的诊断效能.结果 696例脐带血标本中共检出Hb Bart's阳性标本72例,其中男44例,女28例,阳性率为10.34％;静止型14例,阳性率为2.01％,标准型57例,阳性率为8.19％,中间型1例,阳性率为0.14％.Hb Bart's阳性组红细胞各相关参数与电泳正常组相比,差异均有统计学意义(P<0.05),其中Hb Bart's阳性组新生儿脐带血红细胞计数(RBC)、红细胞分布宽度变异系数(RDW-CV)、红细胞计数与血红蛋白比值(RBC/Hb)、红细胞计数与红细胞平均体积比值(RBC/MCV)高于电泳正常组,而Hb、红细胞平均体积(MCV)、平均血红蛋白含量(MCH)、平均血红蛋白浓度(MCHC)、红细胞分布宽度标准差(RDW-SD)低于电泳正常组.ROC曲线分析显示,各参数用于诊断α-地贫的曲线下面积为MCH>RBC/Hb>MCV>RDW-SD>RBC/MCV>MCHC.当RBC/MCV为4.7418时,其诊断α-地贫的灵敏度为79.2％,特异度为84.8％,当RBC/Hb为3.2013时,其诊断α-地贫的灵敏度为86.1％,特异度为96.3％.结论 以脐带血红细胞相关参数作为α-地贫筛查指标,具有准确、经济、便捷的特点,能及早地为α-地贫基因携带患儿立卡建档,降低α-地贫基因携带者成年后相互婚配导致重症地贫患儿出生的概率.     

Ferritin iron content in haemodialysis patients: comparison with septic and hemochromatosis patients

Objectives

Hemodialysis (HD) population commonly show high plasma ferritin levels with a poor diagnostic value. The objective of this study is to elucidate the meaning of HD hyperferritinemia through the analysis of its ferritin iron content (FIC).

Design and methods

FIC (iron atoms/ferritin molecule) was measured by atomic emission spectrometry. Ferritin and FIC values were correlated with iron storage and inflammation markers and the results of HD patients compared to those of septic and hemochromatosis patients.

Results

1) In the whole HD population, high ferritin levels were associated to low FIC values; 2) the correlation of ferritin with iron indices and inflammation markers in HD patients was intermediate in between that of septic and hemochromatosis patients; 3) the FIC level of HD patients was lower than that of the other two groups.

Conclusions

The high ferritin levels of HD patients are not synonymous with either inflammation or of high levels of iron storage. Their high levels and the low FIC values might be due to the presence inside the ferritin core of oligoelements other than iron.