scholarly journals Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children

2021 ◽  
Vol 12 ◽  
Author(s):  
Chongjun Wu ◽  
Ting Xiong ◽  
Zhongjin Xu ◽  
Chunlei Zhan ◽  
Feng Chen ◽  
...  

ObjectiveTo investigate the clinical and genetic characteristics of hereditary spherocythemia (HS) in Chinese children, and to analyze the potential genotypic/phenotypic associations.MethodsThe clinical data and gene test results of children with HS were collected. All patients were diagnosed by gene test results, and the laboratory results were obtained before splenectomy. The data of red blood cell (RBC), hemoglobin (HB), mean red blood cell volume (MCV), mean red blood cell hemoglobin (MCH), mean red blood cell hemoglobin concentration (MCHC), and hematocrit (HCT) were statistically analyzed according to different mutation genes. Statistical methods for comparison between groups Mann–Whitney test analysis, two-terminal p < 0.05 was considered significant difference.ResultsA total of 15 children were enrolled in our hospital, and 14 variants were found (nine variants have not been reported before), including 10 ANK1 mutations (seven ANK1 truncated mutations) and five SPTB mutations. Patients with ANK1 mutations had more severe anemia than those with SPTB mutations (significantly lower RBC, HB, MCHC, and HCT).ConclusionThis is one of the few studies on the genetic and clinical characteristics of children with HS in China. This study identified the unique genetic and clinical characteristics of Chinese children with HS and analyzed the pathogenic genotype–phenotypic association. The results confirmed that the anemia degree of HS patients caused by ANK1 was more serious than that of patients with SPTB deficiency. However, further study of the correlation between genotype and phenotype requires a larger sample size.

Author(s):  
Jasmina PLUNCEVIC GLIGOROSKA ◽  
Serjoza GONTAREV ◽  
Beti DEJANOVA ◽  
Lidija TODOROVSKA ◽  
Daniela SHUKOVA STOJMANOVA ◽  
...  

Background: This study aimed to assess the basic red blood cell variables and hematological indices in children and adolescents and analyze the differences regarding age and sex. Methods: Overall, 320 young participants, age 8 to 18 yr, were enrolled at Laboratory of Sport’s Medicine, Medical Faculty, Skopje, Macedonia in 2016. Capillary blood samples were drawn and following hematologic parameters were measured: the red blood cell count (RBC), hemoglobin concentration (Hb), hematocrit level (Hct) and hematological indexes: mean corpuscular volume (MCV), mean hemoglobin concentration (MCH), mean corpuscular hemoglobin concentration (MCHC) and red cell distribution width (RDW). Results: RBC variables in male group showed high statistical level of significance between age different groups (P=0.001) for all studied parameters except MCHC (P=0.423) and RDW (P=0.174). ANOVA test and multivariate tests in female group showed that there was no significant difference for all hematological parameters between age different groups. Regarding the sex differences, male participants had significantly higher red blood count (P<0.001), hemoglobin content (P<0.001) and hematocrit (P<0.001). Conclusion: Hematological parameters in adolescent as inhomogeneous population are not quantified sufficiently, especially hematological indices. RBC variables, regardless of the age, differ very much between male and female examinees, in favor of the male examinees. Hematological indices were insignificantly higher in males. Regarding the age of examinees, RBC variables showed significant inter-groups differences only within male adolescents. While with girls, ages span 8 to 18 yr, we did not find significant differences for most of the hematological variables.


2019 ◽  
Vol 3 (2) ◽  
pp. 21-26
Author(s):  
Kamal Mohammad Awad ◽  
Asim Alaaeldin Osman ◽  
Amir Ali Bashir ◽  
Abdelmuhsin Hussien Mohamed ◽  
Abdarahim Alborai Abeadalla ◽  
...  

Ideal body weight with proper physical activity and good sleep are essential parameters for good quality of life. This study is concerned with assessing the association of general obesity, physical activity and sleeping hours with hemoglobin (Hb) concentration and red blood cell (RBC) parameters in healthy adults in Sudan. In this cross sectional study, 1086 healthy adults between 20 and 60 years were included out of which 275 were males and 811 were females. A complete blood count (CBC) was performed for Hb, RBC count, PCV, MCH and MCHC using Sysmex KX-21 automated hematology analyzer. The median and 95 percentile (2.5th to 97.5th) range values for Hb and RBC count in underweight were 13.0 (Range: 9.6-16.7) g/dl and 4.6 (Range: 3.6-5.8) ×1000/µL respectively, while Hb and RBC count in obese were 13.1 (Range: 10.4-17.0) g/dl and 4.6 (Range: 3.7-5.9) ×1000/µL respectively, with no significant difference. The RBC count (p=0.004) and Hb (p≤0.001) were significantly high in physically active compared to physically inactive participants; whereas the hemoglobin concentration (p=0.047), red blood cells (p=0.007) and hematocrit (p≤0.001) values were significantly low in long-term sleep compared to normal sleeping hours. In conclusion, there were no significant differences in hemoglobin concentration, RBC count, PCV, MCH and MCHC between under weight, normal weight, overweight and obese persons. Increased physical activity was associated with higher Hb levels and RBC counts, while long-term sleep showed lower Hb and RBCs.


2021 ◽  
Vol 15 (2) ◽  
pp. 26-31
Author(s):  
Khushbhun Nahar Layla ◽  
Shahanara Yeasmin ◽  
Afrina Binte Azad ◽  
Masba Uddin Chowdhury ◽  
Nasrin Sultana ◽  
...  

Background and objectives: Coronavirus disease 2019 (COVID-19) pandemic has affected millions of people world-wide. It is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Increasing evidence has shown abnormalities of different hematological parameters with the severity of the diseases. The present study was undertaken to determine the red blood cell (RBC) profile in different categories of COVID-19 patients. Materials and methods: The study was conducted from January 2020 to December 2020. Reverse transcriptase-polymerase chain reaction (RT-PCR) positive COVID-19 patients were enrolled. Patients were categorized into mild, moderate and severe COVID-19 cases. Blood samples were analyzed by Automated Hematology Analyzer for hemoglobin concentration, total erythrocyte count and RBC indices. ANOVA followed by Bonferroni test, Chi square test, Spearman’s rho correlation coefficient test were performed as applicable using SPSS version 25.0. Results: A total of 100 RT-PCR positive COVID-19 patients were included in the study. There were 25, 38 and 37 mild, moderate and severe cases respectively. The mean age of the study participants was 44.68 + 13.16 years (range: 18 to 65 years). There were 67 (67%) males and 33 (33%) females. No significant difference in hemoglobin (Hb), hematocrit (HCT), total RBC count, red blood cell distribution width (CDW) was observed among the three groups. Significant negative correlation of mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH); rs-0.362 & -0.255 respectively) was observed with disease severity. Conclusion: The study showed low MCV and MCH were significantly related with the severity of the COVID-19 illness. Therefore, comprehensive analysis of the RBC profile would be helpful to understand the disease course. Ibrahim Med. Coll. J. 2021; 15(2): 26-31


2021 ◽  
pp. 107815522110120
Author(s):  
Victoire Béchet ◽  
Hubert Benoist ◽  
Frédéric Beau ◽  
Fabienne Divanon ◽  
Stéphanie Lagadu ◽  
...  

Background Caregivers in healthcare settings are exposed to a risk of antineoplastic drug contamination which can lead to adverse health effects. Biological monitoring is necessary to estimate the actual level of exposure of these workers. This study was conducted with the aim of assessing blood contamination levels by irinotecan and its metabolites of pharmaceutical staff operating inside and outside a compounding unit. Methods The study took place within the pharmaceutical unit of a French comprehensive cancer centre. Blood samples were collected from the pharmacy workers operating inside and outside the compounding unit, and analysed by UHPLC-MS/MS. Plasma and red blood cell irinotecan and its metabolites (SN-38; APC) were determined with a validated analytical method detection test. Results A total of 17/78 (21.8%) plasma and red blood cell-based assays were found to be contaminated among staff. Overall, the total number of positive assays was significantly higher for staff members working outside the compounding unit than for workers working inside it ( P = 0.022), with respectively 5/42 (11.9%) and 12/36 (33.3%) positive assays. For plasma dosages, the “outside” group had a significantly higher number of positive assays ( P = 0.014). For red blood cell-based assays, no significant difference was found ( P = 0.309). Conclusions This study reveals that pharmaceutical staff serving in health care settings are exposed to a risk of antineoplastic drug contamination, not only inside the compounding room but also in adjacent rooms. The results would help to raise awareness and potentially establish protective measures for caregivers working in areas close to the compounding room as well.


2021 ◽  
Vol 9 (1) ◽  
pp. 21
Author(s):  
Hidayatul Ihsan ◽  
Iman Surya Pratama ◽  
Nisa Isnaeni Hanifa

The stew of Mirabilis jalapa L. flower has been used traditionally as an anti-inflammatory. Phytochemical screening of Mirabilis jalapa L. flower showed flavonoid content which is known to have anti-inflammatory activity. This study aims to determine the anti-inflammatory activity of Mirabilis jalapa L. flower infusion using the red blood cell membrane stabilization method by inducing hypotonicity and heat. The test group consisted of Mirabilis jalapa L. flower infusion with a concentration of 2.5%; 5%; and 10% w / v, positive control (diclofenac sodium 0.01% w / v and aspirin 0.01% w / v), and negative control (distilled water). The anti-inflammatory activity of Mirabilis jalapa L. flower infusion was determined by the percentage of membrane stabilization and inhibition of red blood cell hemolysis. Data from the test results were statistically analyzed both parametric and nonparametric with SPSS. Mirabilis jalapa L. flower infusion contains flavonoids, tannins and terpenoids. The test results showed that the 10% concentration of Mirabilis jalapa L. flower infusion had the largest percentage of red blood cell hemolysis protection on hypotonicity induction, that is 99.50% (p>0.05) and the largest percentage of hemolysis inhibition on heat induction, that is 50.27% ( p≤0.05). From these results, it can be concluded that the Mirabilis jalapa L. flower infusion has potential as an anti-inflammatory by stabilizing the red blood cell membrane.


Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 1-2
Author(s):  
Arvand Barghi ◽  
Robert Balshaw ◽  
Emily Rimmer ◽  
Murdoch Leeies ◽  
Allan Garland ◽  
...  

Background: Red blood cell (RBC) transfusions are often used to treat patients with iron deficiency who present to the emergency department (ED) with symptomatic anemia. Intravenous (IV) iron is the preferred treatment in this setting, as it has been shown to increase hemoglobin concentration rapidly and durably. We aim to determine the incidence of iron deficiency anemia (IDA) and the management of these patients in the ED setting. Objectives: To evaluate the incidence of IDA, the frequency of RBC transfusion and iron supplementation, and factors associated with RBC transfusion. Study Design: Retrospective cohort study of all adult patients presenting to the St Boniface Hospital (Winnipeg, CAN) ED from January 2014 to January 2019. Methods: We used electronic data from the Emergency Department Information System (EDIS) and Laboratory Information Services (LIS) databases to identify patients presenting with IDA, defined as anemia (hemoglobin &lt;120 g/L) with either a transferrin saturation less than 20% or ferritin less than 30 umol/L, or mean corpuscular volume (MCV) of &lt; 75 fL. A ferritin greater than 100 umol was used to exclude IDA, regardless of MCV. We extracted patient demographics, diagnoses, markers of iron storage, RBC transfusion and use of IV iron. Multivariate logistic regression analysis was used to evaluate factors associated with RBC transfusion. Results: Of 39222 patients, 17945 (45%) were anemic. Of the anemic patients, iron parameters were ordered in 1848 (10.3%) patients, and IDA was present in 910 (5.1 %). In the IDA population, 95 patients (10.4 %) received 1 RBC unit, and 197 patients (21.6 %) received 2 or more units. Oral iron and IV iron were prescribed for 64 (7 %) and 14 (1.5 %) patients, respectively. Our logistic regression model demonstrated that hemoglobin concentration was the main determinant of whether patients received RBC transfusion. Other variables including patient age, cardiac symptoms, heart rate, blood pressure, and CTAS score were not associated with increased likelihood of receiving RBC transfusion. Conclusion: Iron parameters were infrequently ordered in the evaluation of anemia in the ED, with limited use of oral and IV iron. The decision to transfuse RBCs was primarily influenced by hemoglobin concentration, but not other surrogates of hemodynamic instability. An interventional study to improve education and access to oral and IV iron is planned to reduce unnecessary RBC transfusions and their associated risks in patients with IDA. Disclosures No relevant conflicts of interest to declare.


Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3988-3988 ◽  
Author(s):  
Harris V.K. Naina ◽  
Samar Harris

Abstract Inherited giant platelet disorders are a group of rare disorders characterized by thrombocytopenia, giant platelets and variable bleeding symptoms. Naina et al., described a new giant platelet disorder called Harris Platelet Syndrome (HPS), the most common inherited giant platelet disorder occurring in up to one third of blood donors from north eastern part of Indian subcontinent. HPS is characterized by an autosomal dominant mode of inheritance with normal to severe thrombocytopenia (less than 50x109/L), giant platelets (mean platelet volume more than 10fL) and absent bleeding symptoms with normal platelet aggregation studies. Occasionally abnormalities in red blood cell morphology have been associated with certain giant platelet disorders such as stomatocytosis in Mediterranean Macrothrmboctopenia, dyserythropoiesis in GATA 1 associated macrothrombocytopenia and thalassemia, in X Linked Thrombocytopenia Thalassemia (XLTT). This study was undertaken to analyze the platelet and red blood cell indices in blood donors with Harris Platelet syndrome. A total of 203 blood donors were included in this study, 101 blood donors from northeaster part of India with MPV more than 12fl (normal 7–10fl) and 102 blood donors from southern part of India. Before blood donation, all donors were questioned about a history of bleeding conditions, in either themselves or their relatives. Blood samples were collected in ethylenediaminetetraacetic acid (EDTA). Automated platelet counts were performed using a Coulter STKS (Coulter, Hialeah, Florida) within 2 hours of collection. Peripheral blood smears were examined to confirm thrombocytopenia, giant platelets and red blood cell morphology. There was a significant difference between platelet count (Mean ±SD) 136± 40 Vs 262 ± 53 in southern India (p<0.000). Thirty three donors with HPS had a normal platelet count with MPV more than 12fL. MPV was 13.6±0.13 (range 12 to21.9fL) in donors with HPS and 7.3 ±0.6 (range 6–9.2fl) in southern Indian blood donors. The platelet distribution width (PDW) was 17.4±0.8 in donors with HPS and was 16.38±0.5 in southern India blood donors(p<0.000). Though there was a significant difference between hemoglobin, 13.8 ± 1.0 vs and 14.7± 1.1 (P<0.00), there was no significant difference between RDW, MCV, MCH, MCHC. Peripheral blood smear did not show any obvious red blood cell abnormality, but showed giant platelets and thrombocytopenia. Harris platelet syndrome is associated with normal to severe thrombocytopenia, giant platelets and significant platelet anisocytosis. There was no associated red blood cell abnormalities observed with HPS.


2019 ◽  
Vol 70 (1) ◽  
pp. 69-80
Author(s):  
Guang Cai ◽  
Jun Qiu ◽  
Shuai Chen ◽  
Qile Pan ◽  
Xunzhang Shen ◽  
...  

Abstract This study objective was to evaluate gender differences in hematological, hormonal and fitness variables among youth swimmers and to explore relationships between erythrocyte indices and aerobic and anaerobic capacity. 137 girls and 171 boys participated in the study and were divided into three groups based on their training experience. Blood samples were obtained to determine red blood cell counts, hemoglobin concentration, hematocrit, and plasma erythropoietin and testosterone levels. VO2max was assessed using a submaximal cycle protocol. 76 girls and 102 boys also undertook a Wingate test to determine their peak anaerobic power. Boys had higher (p < 0.05) means than girls for all hematological variables except for erythropoietin and these variables demonstrated an increase with training in boys. The average VO2max in l∙min-1 and peak anaerobic power in watts were also higher in boys (2.91 ± 0.08 and 547 ± 28, respectively) than girls (2.25 ± 0.07 and 450 ± 26, respectively). Modest but significant (p < 0.05) correlations were found between VO2max and red blood cell counts (r = 0.252), hemoglobin concentration (r = 0.345), or hematocrit (r = 0.345) and between peak anaerobic power and red blood cell counts (r = 0.304), hemoglobin concentration (r = 0.319) or hematocrit (r = 0.351). This study revealed relatively lower yet age- and gender-appropriate hematological, hormonal and fitness indices in youth swimmers. The gender-related differences in erythrocyte indices seem unrelated to erythropoietin and may be explained by the higher testosterone levels seen in boys. Given their correlation to both aerobic and anaerobic capacity, erythrocyte indices may be used as part of talent identification for sports.


Author(s):  
Kartika Paramita ◽  
Agus Alim Abdullah ◽  
Mansyur Arif

 Stroke is a functional disorder attributed to acute focal or global brain injury by vascular cause and persists more than 24 hours. Stroke is divided into ischemic and hemorrhagic strokes. Red Blood Cell Distribution Width (RDW) is a measurement of erythrocyte volume variation in blood circulation. Increased RDW reflects the inflammation that plays a role in the development of atherosclerosis in stroke. This study aims to analyze differences in RDW-CV values in patients with stroke. The design was cross-sectional with a retrospective approach, secondary data from medical records of inpatients with stroke from January to December 2016 at the Dr. Wahidin Sudirohusodo Hospital. The study population consisted of 490 patients aged ≥ 18 years old. The Kruskal-Wallis, Mann-Whitney, and Anova one way tests were used to analyze differences in RDW-CV values in patients with ischemic and hemorrhagic stroke. Mann-Whitney test results showed no significant difference in RDW-CV values between groups of ischemic and hemorrhagic stroke (p 0.96). Kruskal-Wallis and Anova one way tests showed no significant difference in RDW-CV values between four groups of patient outcomes in ischemic and hemorrhagic stroke (p 0.13 and p 0.35 consecutively). There were no significant RDW-CV values between ischemic and hemorrhagic stroke. There was no significant difference between RDW-CV values of four groups of patient outcomes in ischemic and hemorrhagic stroke. RDW-CV values cannot be used to distinguish both ischemic and hemorrhagic stroke, including the prediction of stroke mortality


Sign in / Sign up

Export Citation Format

Share Document