scholarly journals Rapid Gardos Hereditary Xerocytosis Diagnosis in 8 Families Using Reticulocyte Indices

2021 ◽  
Vol 11 ◽  
Author(s):  
Véronique Picard ◽  
Corinne Guitton ◽  
Lamisse Mansour-Hendili ◽  
Bernard Jondeau ◽  
Laurence Bendélac ◽  
...  

Gardos channelopathy (Gardos-HX) or type 2 stomatocytosis/xerocytosis is a hereditary hemolytic anemia due to mutations in the KCNN4 gene. It is rarer than inherited type 1 xerocytosis due to PIEZO1 mutations (Piezo1-HX) and its diagnosis is difficult given the absence of a specific clinical or biological phenotype. We report here that this diagnosis can be sped up using red blood cell (RBC) indices performed on an ADVIA 2120 (Siemens®) analyzer, which measures reticulocyte mean corpuscular volume (rMCV) and mean corpuscular hemoglobin concentration (rMCHC). We studied reticulocyte indices in 3 new and 12 described patients (8 families) with Gardos-HX, 11 subjects presented the recurrent p.Arg352His mutation, 4 cases (two families) carried a private KCNN4 mutation. They were compared to 79 described patients (49 families) with Piezo1-HX. Surprisingly, in Gardos-HX cases, rMCV revealed to be smaller than MCV and rMCHC higher than MCHC, in contrast with normal or Piezo1-HX RBC. Consequently, ΔMCV (rMCV-MCV) was −0.9 ± 5 fL vs. 19.8 ± 3 fL (p < 0.001) in Gardos compared with Piezo1-HX and ΔMCHC (rMCHC-MCHC) was 18.7 ± 13 vs. −50 ± 8.7 g/L (p < 0.001). A threshold of 8.6 fL for ΔMCV and −5.5 g/L for ΔMCHC could discriminate between Gardos and Piezo1-HX with 100% sensitivity and specificity, regardless of age, mutation or splenectomy status. Consequently, we showed that reticulocytes indices are useful to suggest Gardos-HX on blood count results, allowing to rapidly target these patients for gene analysis. In addition, these parameters may prove useful as a ‘functional tool’ in interpreting new KCNN4 variants.

2021 ◽  
Vol 8 (Supplement_1) ◽  
pp. S461-S462
Author(s):  
Melissa E Day ◽  
Miguel E Mejia Sang ◽  
Yonairy Collado Puello ◽  
Elvira J Diaz Brockmans ◽  
Stephanie Rivera Defillo ◽  
...  

Abstract Background Dengue fever (DF) is an acute viral disease which can lead to severe illness, including dengue hemorrhagic fever, marked by thrombocytopenia and hemolytic anemia, as well as end-organ damage. Despite the well-known presentation and prevalence, changes in hematologic markers across the DF course have not been well-described in children. We sought to investigate the association of clinical laboratory values over time with dengue disease progression and outcome in a pediatric population in the Dominican Republic. Methods Pediatric participants were enrolled at Hospital Infantil Dr. Robert Reid Cabral in Santo Domingo, Dominican Republic, in a prospective, observational case-based study. Laboratory values, including complete blood count (CBC) indices and dengue titer results, were collected over the course of hospital stay. Using linear mixed models, we assessed whether 13 different CBC values and time trajectories differed by dengue status, including age and sex as covariates. To account for multiple testing, p≤0.0033 was considered significant. Results A total of 575 children ages 0 to 211 months met inclusion criteria; 51.8% (n=298) were male, and the median (IQR) age was 59 (14-93) months. Eighty-two percent (n=472) of participants had DF. CBC values across days 1 to 10 of fever in those with and without DF are depicted in Figure 1. Those with DF showed levels dropping more quickly across days of fever for hematocrit and hemoglobin (p≤ 0.002), with a more rapid decline in those with severe DF (p < 0.0001). Those with DF had levels increasing more quickly for mean corpuscular hemoglobin concentration (MCHC), monocyte number, and white blood cell counts (p ≤ 0.003), with those with severe DF having a more rapid increase (p < 0.001). The direction of the change across time differed by DF status for mean corpuscular volume and red blood cell distribution width (RDW) (p ≤ 0.0003), with those with severe DF showing an increase in RDW across day of fever (p= 0.0004). Figure 1. CBC values across day of fever in dengue (blue) and non-dengue (purple) patients. The graph above depicts the following CBC values across day of fever in dengue (blue) and non-dengue (purple) patients: a) white blood cell (WBC) count, b) platelet count, c) monocyte number, d) hemoglobin, e) mean corpuscular hemoglobin concentration (MCHC), and f) mean corpuscular volume (MCV). Values with an asterisk (*) represent significant values (p < 0.0033). Conclusion The trajectory of CBC measures differs between those with and without DF, despite similar clinical presentations. These laboratory differences may facilitate a better understanding of the clinical course of DF and may aid in earlier identification of DF in resource-limited settings. Disclosures Elizabeth P. Schlaudecker, MD, MPH, Pfizer (Grant/Research Support)Sanofi Pasteur (Advisor or Review Panel member)


Blood ◽  
1981 ◽  
Vol 57 (6) ◽  
pp. 1065-1067 ◽  
Author(s):  
JA Strauchen ◽  
W Alston ◽  
J Anderson ◽  
Z Gustafson ◽  
LF Fajardo

Abstract Because we recently observed two patients with severe diabetic hyperglycemia and spuriously elevated electronically determined hematocrit and mean corpuscular volume (MCV), we investigated the effect of hyperglycemia on two popular automated hematology systems, the Coulter S and Ortho ELT-8. Marked hyperglycemia (blood glucose 800-- 2000 mg/dl) caused consistent overestimation of the electronically determined MCV compared to that derived from a simultaneous spun microhematocrit. The resultant overestimation and underestimation, respectively, of the derived values for hematocrit and mean corpuscular hemoglobin concentration may be clinically misleading. The mechanism of MCV elevation in hyperglycemia appears to be swelling of hyperosmolar glucose “loaded” erythrocytes when diluted into “isotonic” counting medium. This effect is readily circumvented by determination of a spun microhematocrit.


Author(s):  
I Gede Agus Eva Prawira Adinata ◽  
Ni Ketut Suwiti ◽  
Anak Agung Sagung Kendran

Telah dilakukan penelitian untuk mengetahui nilai hematologi MCHC (Mean Corpuscular Hemoglobin Concentration), MCV (Mean Corpuscular Volume) dan MCH (Mean Corpuscular Haemoglobin) darah sapi bali yang dipelihara berbasis organik. Sistem pemeliharaan berbasis organik adalah manajemen pemberian pakan yang berasal dari lingkungan serta tidak menggunakan pestisida atau zat kimia lainnya. Nilai MCV, MCH dan MCHC darah sapi bali diukur dengan Veterinary hematology analyzer. Hasil penelitian menunjukan, nilai dari MCHC sebesar 39,17%/dl, MCV sebesar 48,44 fl dan nilai dari MCH sebesar 18,69pg. Dapat disimpulkan rerata nilai tersebut masih dalam batas normal nilai indeks eritrosit sapi pada umumnya.


2020 ◽  
Vol 8 (3) ◽  
Author(s):  
Anisah Dahlan ◽  
Fitria Hariati Ramdhani ◽  
Neni Anggraeni ◽  
Irma Melyani Puspitasari ◽  
Mirasari Putri ◽  
...  

Carbon tetrachloride (CCL4) is widely used in industry, toxic to the environment and humans, and most often used as a model of acute liver damage and liver fibrosis in experimental animals. Liver damage can deteriorate the hematological profile. The roots of cogongrass (Imperata cylindrica L.) have been used as traditional medicine due to its antioxidant activity. This study was conducted at the Faculty of Medicine, Universitas Padjadjaran, from January to March 2019. The study aimed to investigate whether the cogongrass roots ethanol extract (CGRE) can ameliorate the disturbance in the hematological profile in acute CCl4-injected mice. CGRE in dose 150 and 200 mg/kgBW was given orally to mice for four weeks before intraperitoneal injection of CCl4 1 mL/kgBW in olive oil (1:1 v/v). After 48 hours, mice were sacrificed, and the whole blood was drawn for hematological analysis. As a result, mean corpuscular volume (MCV) was reduced in CCl4-induction mice treated with CGRE in dose 150 mg/kgBW (49.25±3.06 vs 43.38±2.13 fl, p<0.05). This condition was followed by the improved hematocrit (Hct) and mean corpuscular hemoglobin concentration (MCHC). Platelet and platelet crit (Pct) levels were tended to decrease in CCl4-induction mice treated with CGRE in dose 150 mg/kgBW. In conclusion, CGRE dose 150 mg/kg BW can improve MCV, Hct, MCHC, platelet, and Pct in CCl4-injection mice. The antioxidant level in CGRE might facilitate it. EKSTRAK ETANOL AKAR ALANG-ALANG (IMPERATA CYLINDRICAL L.) MEMPERBAIKI PROFIL HEMATOLOGI PADA MENCIT YANG DIINJEKSI CARBON TETRACHLORIDECarbon tetrachloride (CCL4) banyak digunakan pada industri, bersifat toksik bagi lingkungan dan manusia, serta sering digunakan pada hewan coba untuk kerusakan liver akut dan fibrosis. Kerusakan liver dapat menyebabkan gangguan profil hematologi. Akar alang-alang (Imperata cylindrica L.) telah digunakan sebagai obat tradisional karena memiliki aktivitas antioksidan. Penelitian ini dilakukan di Fakultas Kedokteran Universitas Padjadjaran pada bulan Januari hingga Maret 2019. Tujuan penelitian ini adalah meneliti apakah ekstrak etanol akar alang-alang dapat memperbaiki gangguan profil hematologi pada mencit yang diinjeksi CCL4 secara akut. Ekstrak etanol akar alang-alang (EEAA) dosis 150 dan 200 mm/kgBB diberikan per oral kepada mencit selama empat minggu sebelum injeksi intraperitoneal CCl4 1 mL/kgBB yang dilarutkan dalam minyak zaitun (1:1 v/v). Setelah 48 jam, mencit dikorbankan dan diambil darahnya untuk pemeriksaan hematologi. Sebagai hasil, mean corpuscular volume (MCV) menurun pada mencit yang diinduksi CCl4 dengan perlakuan EEAA 150 mg/kgBB (49,25±3,06vs 43,38±2,13 fl, p<0,05). Keadaan ini diikuti dengan perbaikan hematokrit (Hct) dan mean corpuscular hemoglobin concentration (MCHC). Kadar platelet dan platelet crit (Pct) cenderung menurun pada mencit yang diinduksi CCl4 dengan perlakuan EEAA 150 mg/kgBB. Sebagai simpulan, EEAA dosis 150 mg/kgBB dapat memperbaiki MCV, Hct, MCHC, platelet, dan Pct pada mencit yang diinjeksi CCL4. Kemungkinan difasilitasi oleh antioksidan pada EEAA.


1987 ◽  
Vol 7 (4) ◽  
pp. 227-231
Author(s):  
Miguel Perez-Fontan Ana ◽  
F. Zamorano ◽  
Emma Huarte ◽  
Mercedes F. De Castro ◽  
Rafael Selgas

We studied the effect produced on corpuscular parameters and erythrocyte deformability by transfer of red blood cells to a nontoxic isoosmotic medium. The study groups were uremic patients treated with hemodialysis (HD) and continuous ambulatory peritoneal dialysis (CAPD). Erythrocyte deformability was estimated by the erythrocyte filtration rate (EFR). Transfer resulted in a significant decrease in mean corpuscular volume (MCV) and an increase in mean corpuscular hemoglobin concentration (MCHC), in comparison with healthy controls. The principal cause for this may be an improvement in erythrotycte membrane function. The change was more marked in the CAPD than in the HD patients; CAPD patients displayed a clear tendency to microcytosis after changing media, not directly attributable to iron deficiency or aluminum intoxication. Erythrocyte deformability was decreased markedly in all the patients, but study of the EFR of washed erythrocytes suggested that there was more impairment in HD. These differences could have some effect on the response of the hemolytic component of the anemia of uremia to HD and CAPD.


2012 ◽  
Vol 84 (4) ◽  
pp. 943-949 ◽  
Author(s):  
Ehsan Daneshvar ◽  
Mahsa Y. Ardestani ◽  
Salar Dorafshan ◽  
Mauricio L. Martins

This study describes the hematological parameters in Iranocichla hormuzensis, an Iranian freshwater cichlid important as ornamental and food fish. Forty fish were captured with seine net at Mehran river Hormozgan province, Iran. Blood was used to determine the total counts of red blood cells (RBC) and white blood cells (WBC), hematocrit, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and morphometric data of erythrocytes. The Iranian fish showed lower RBC and WBC values than the other cichlids (Oreochromis niloticus, O. aureus, O. mossambicus, O. hybrid, Cichlasoma dimerus and Cichla monoculus). Hematocrit did not vary among the species, but MCV, MCH and MCHC in I. hormuzensis were higher than those for O. niloticus, O. aureus, O. hybrid, C. dimerus and C. monoculus. These differences may be related to different life habit of fish. This study suggests that I. hormuzensis is well acclimated to the environment being the first report for its hematology. It is also suggested high efficiency in oxygen transportation, and an efficient inflow of oxygen by the gills, indicating the welfare of fish on this environment.


Diagnostics ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 80
Author(s):  
Roxana Covali ◽  
Demetra Socolov ◽  
Razvan Socolov ◽  
Ioana Pavaleanu ◽  
Alexandru Carauleanu ◽  
...  

Background: During viral outbreaks, pregnancy poses an increased risk of infection for women. Methods: In a prospective study, all patients admitted for delivery at term to Elena Doamna Obstetrics and Gynecology University Hospital in Iasi, Romania, between 1 April 2020 and 31 December 2020 were included. There were 457 patients, divided into two groups: group 1, SARS-CoV-2-positive patients (n = 46) and group 2, SARS-CoV-2-negative patients (n = 411). Among other tests, complete blood count was determined upon admittance, and the following values were studied: white blood cell count, lymphocytes, neutrophils, red blood cell count, hemoglobin, mean corpuscular hemoglobin concentration, mean corpuscular hemoglobin, mean corpuscular volume, red blood cell distribution width, hematocrit, platelet count, mean platelet volume, platelet distribution width, plateletcrit, and platelet large cell ratio. Results: in pregnant SARS-CoV-2-infected patients at term, there was a significant decrease in white blood cell, neutrophil, and lymphocyte count, and an increase in mean corpuscular hemoglobin concentration, compared to healthy pregnant women at term, although all still within normal limits. None of the other components of the complete blood count or fetal outcomes studied was significantly influenced by SARS-CoV-2 infection in pregnant patients at term.


Blood ◽  
1981 ◽  
Vol 57 (6) ◽  
pp. 1065-1067
Author(s):  
JA Strauchen ◽  
W Alston ◽  
J Anderson ◽  
Z Gustafson ◽  
LF Fajardo

Because we recently observed two patients with severe diabetic hyperglycemia and spuriously elevated electronically determined hematocrit and mean corpuscular volume (MCV), we investigated the effect of hyperglycemia on two popular automated hematology systems, the Coulter S and Ortho ELT-8. Marked hyperglycemia (blood glucose 800-- 2000 mg/dl) caused consistent overestimation of the electronically determined MCV compared to that derived from a simultaneous spun microhematocrit. The resultant overestimation and underestimation, respectively, of the derived values for hematocrit and mean corpuscular hemoglobin concentration may be clinically misleading. The mechanism of MCV elevation in hyperglycemia appears to be swelling of hyperosmolar glucose “loaded” erythrocytes when diluted into “isotonic” counting medium. This effect is readily circumvented by determination of a spun microhematocrit.


2020 ◽  
Vol 17 (1) ◽  
pp. 24-28
Author(s):  
Felix Oghenemaro Enwa ◽  
Johnson Daniel Jemikalajah ◽  
Michael Oghenejobo ◽  
Victor Eseoghene Oghenebrume

The aim of the study is to evaluate the effects of the methanolic extract of Tridax procumbens L. flower on the hematological and serum lipid profile of Albino Wistar rats. Ten male albino Wistar rats were obtained and divided into two groups (control and test). The flowers were extracted by cold maceration using methanol. The extract was then administered orally to the Test group at a dose of 100 mg/kg/d. Thereafter, blood samples were obtained from both groups and the hematological and serum lipid parameters were analyzed using auto-analyzers. The results of the hematological parameters obtained for Test group were; PCV-46.2%, Hemoglobin-14.656 g/dl, Platelets-141.08 mm3, Eosinophil-4.0%, Neutrophil-38%, Mean corpuscular hemoglobin (MCH)-35.532pg, Mean corpuscular hemoglobin concentration (MCHC)-32.11gl and Mean corpuscular volume (MCV)-108.658 ft, which were higher compared to the Control; while that of the serum lipid profiles were determined to be; Cholesterol-142.58 mg/dl,Triglycerides-157.58 mg/dl, HDL-56.72 mg/dl, LDL-55.944 mg/dl and VLDL-31.516 mg/dl. The plants were seen to have slight weight reducing activity, no significant effect on total white blood cell count, increased eosinophils, neutrophils, packed cell volume, platelet count, mean corpuscular  hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV), HDL, and reduced LDL, VLDL,triglycerides, cholesterol on the rats tested. Hence, from this study, this plant can serve as a good candidate to be used as a hematinic agent, as  weight reducers, and a lipid lowering agent. Keywords: Tridax procumbens, Wistar rat, HDL, LDL MCV, MCHC


2016 ◽  
Vol 25 (3) ◽  
pp. 299-305 ◽  
Author(s):  
Lincoln Lima Corrêa ◽  
Marcos Sidney Brito Oliveira ◽  
Marcos Tavares-Dias ◽  
Paulo Sérgio Ceccarelli

Abstract Among Kinetoplastida, the Trypanosoma is the genus with the highest occurrence infecting populations of marine fish and freshwater in the world, with high levels of prevalence, causing influences fish health and consequent economic losses, mainly for fish populations in situation stress. This study investigated infections of Hypostomus spp. by Trypanosoma spp. and leeches, as well as blood parameters of this host in the network of tributaries of the Tapajós River in the state of Pará, in the eastern Amazon region in Brazil. Of the 47 hosts examined, 89.4% were parasitized by Trypanosoma spp. and 55.4% also had leeches attached around the mouth. The intensity of Trypanosoma spp. increased with the size of the host, but the body conditions were not influenced by the parasitism. The number of red blood cells, and hemoglobin, mean corpuscular volume (MCV), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular hemoglobin (MCH), total number of leukocytes and thrombocytes showed variations and negative correlation with the intensity of Trypanosoma spp. in the blood of the hosts. The results suggest that the leeches were vectors of Trypanosoma spp. in Hypostomus spp.


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