National Institute of Blood Transfusion

Paris, France

National Institute of Blood Transfusion

Paris, France

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Saison C.,National Institute of Blood Transfusion | Peyrard T.,National Institute of Blood Transfusion | Peyrard T.,National Reference Center for Blood Groups | Landre C.,National Institute of Blood Transfusion | And 8 more authors.
Vox Sanguinis | Year: 2012

Background and objectives The Colton blood group antigens are carried by the AQP1 water channel. AQP1-/- individuals, also known as Colton-null since they express no Colton antigens, do not suffer any apparent clinical consequence but may develop a clinically significant alloantibody (anti-CO3) induced by transfusion or pregnancy. Identification and transfusion support of Colton-null patients are highly challenging, not only due to the extreme rarity of this phenotype, the lack of appropriate reagents in most laboratories, as well as the possibility of confusing it with the recently described CO:-1,-2,3,-4 phenotype where AQP1 is present. This study investigated a new Colton-null case and evaluated three commercially available anti-AQP1s to identify Colton-null red blood cell samples. Methods The Colton-null phenotype was investigated by standard serological techniques, AQP1 sequencing, immunoblot and flow cytometry analyses. Results We identified and characterized the Colton-null phenotype in a Gypsy woman who developed an anti-CO3 during her first pregnancy. After developing a simple and robust method to sequence AQP1, we showed that she was apparently homozygous for a new AQP1 null allele, AQP1601delG, whose product is not expressed in her red blood cells. We also established the Colton specificity of three commercially available anti-AQP1s in immunoblot and/or flow cytometry analyses. Conclusion This Gypsy woman represents the sixth Colton-null case characterized at the serological, genetic and biochemical levels. The validation here of new reagents and methods should facilitate the identification of Colton-null individuals. © 2012 The Author(s). Vox Sanguinis © 2012 International Society of Blood Transfusion.


Kouao M.D.,University of California at San Francisco | Kouao M.D.,National Institute of Blood Transfusion | Dembele B.,University of California at San Francisco | Dembele B.,National Institute of Blood Transfusion | And 10 more authors.
Transfusion | Year: 2012

Introduction: Blood donor selection is important to ensure the safety of both donors and recipients. There is a paucity of data on reasons for blood donor deferral in Ivory Coast. The aim of this study was to identify the reasons for predonation deferral at a blood collection site at General Hospital, Yopougon Attié in Abidjan. Materials and Methods: The investigators conducted a retrospective audit of data pertaining to donor deferral for blood donors that presented to the general hospital of Yopugon Attié from January 1, 2006 to December 31, 2008. Results: A total of 10,694 prospective blood donors, presented over the study period, and 24,363 attempts to donate were registered. The majority were repeat blood donors (77.4%). A total of 2618 (10.8%) donors were deferred. The most frequent reason for deferral was a low hemoglobin level (42.5%), with females constituting the majority of those deferred. The second most frequent reason for deferral was a reported change of or new sexual partner (34.3%); male donors were predominant in this group. Additional reasons for deferral included short interdonation interval (4.6%) and reactivity for a screened biomarker (2.3%). Conclusion: Although the rates for permanent and temporary deferral rates are similar between the Ivory Coast and high-middle income countries, the causes and demographics differ. The reasons for exclusion are preventable through awareness and education of prospective blood donors. © 2012 American Association of Blood Banks.


Arnaud L.,National Institute of Blood Transfusion | Saison C.,National Institute of Blood Transfusion | Helias V.,National Institute of Blood Transfusion | Lucien N.,National Institute of Blood Transfusion | And 25 more authors.
American Journal of Human Genetics | Year: 2010

The congenital dyserythropoietic anemias (CDAs) are inherited red blood cell disorders whose hallmarks are ineffective erythropoiesis, hemolysis, and morphological abnormalities of erythroblasts in bone marrow. We have identified a missense mutation in KLF1 of patients with a hitherto unclassified CDA. KLF1 is an erythroid transcription factor, and extensive studies in mouse models have shown that it plays a critical role in the expression of globin genes, but also in the expression of a wide spectrum of genes potentially essential for erythropoiesis. The unique features of this CDA confirm the key role of KLF1 during human erythroid differentiation. Furthermore, we show that the mutation has a dominant-negative effect on KLF1 transcriptional activity and unexpectedly abolishes the expression of the water channel AQP1 and the adhesion molecule CD44. Thus, the study of this disease-causing mutation in KLF1 provides further insights into the roles of this transcription factor during erythropoiesis in humans. © 2010 The American Society of Human Genetics. All rights reserved.


Popa O.M.,University of Bucharest | Popa L.,Grigore Antipa National Museum of Natural History | Dutescu M.I.,National Institute of Blood Transfusion | Bojinca M.,University of Bucharest | And 5 more authors.
Tissue Antigens | Year: 2011

We determined the distribution of human leukocyte antigen-C (HLA-C) allelic groups in a cohort of psoriatic arthritis (PsA) patients and a control population of Romanian ethnicity. A nominal association of HLA-C*06 with susceptibility to PsA was observed [P = 0.014, pcorr > 0.05, odds ratio (OR) 2.1, 95% confidence interval (CI) 1.08-4.46]. When subanalyzing data according to PsA clinical phenotypes, association was noticed between HLA-C*06 and PsA with psoriasis onset before 40 years (pcorr = 0.013, OR 3.7, 95% CI 1.58-9). This first report from Romania confirmed the association of HLA-C*06 with type I psoriasis in PsA patients. Other study findings, such as the relationship between HLA-C*06 and spondylitis or the protective effect of HLA-C*07 for the polyarthritis clinical phenotype of PsA, are of preliminary character and require verification. © 2011 John Wiley & Sons A/S.


Popa O.M.,University of Bucharest | Popa O.M.,Palacky University | Kriegova E.,Palacky University | Popa L.,Grigore Antipa National Museum of Natural History | And 5 more authors.
Cytokine | Year: 2013

Background: The cytokines IL12 and IL23 have been recently implicated in the pathogenesis of psoriatic arthritis (PsA). In this study we investigated the genetic variations in the genes coding for IL12, IL23 and IL23 receptor as a plausible source of susceptibility and modification of clinical symptoms of PsA in Romanian population. Methods: Twenty five SNPs mapping to IL12A, IL12B, IL23A, IL23R and IL12RB1 genes were genotyped in 94 PsA patients and 161 healthy controls of Romanian ethnicity using the Sequenom genotyping platform. Results: The exonic SNP rs11171806 from IL23A gene was significantly underrepresented in patients versus controls (p= 0.03, OR 0.391) and the carriers of rs11171806/rs2066808 AC haplotype had decreased risk for PsA (p= 0.03). The two SNPs of the highly conserved gene IL23A are in complete LD in our population. Genetic variants of IL12B gene were associated with polyarticular subtype of PsA. No associations were found between SNPs from IL12A, IL23R and IL12RB1 genes and susceptibility to PsA and its phenotypes. Conclusion: We confirm the previously described association of rs2066808 variant with psoriasis and PsA and we show evidence of an extended genomic region inside IL23A gene as carrier of true disease susceptibility factors. These data suggest a role for IL23 in the PsA pathogenesis in Romanians. © 2013 Elsevier Ltd.


Cherciu M.,University of Bucharest | Popa L.O.,Grigore Antipa National Museum of Natural History | Bojinca M.,University of Bucharest | Dutescu M.I.,National Institute of Blood Transfusion | And 3 more authors.
Tissue Antigens | Year: 2013

We investigated two nonsynonymous variants (rs30187 and rs27044) of ERAP1 gene in HLA-B27 positive individuals (150 spondyloarthritis and 108 controls) and in general ankylosing spondylitis (AS) patients (n = 137) vs random controls (n = 139). Both single nucleotide polymorphisms (SNPs) were associated with the risk of spondyloarthritis [odds ratio (OR) 1.80, 95% confidence interval (CI) 1.24-2.62, P = 0.001 for rs30187, OR 1.58, 95% CI 1.07-2.34, P = 0.02 for rs27044]. The CC haplotype was a protective factor (P = 0.002), while the TG haplotype was a risk factor (P = 0.01) for spondyloarthritis. The SNP rs30187 was also associated with the risk of HLA-B27+ AS. For the general group of AS, the carriers of minor alleles showed an increased risk for the disease (OR 1.92, 95% CI 1.17-3.13 for rs30187, OR 1.74, 95% CI 1.08-2.80 for rs27044). This is the first study that shows the association of ERAP1 gene variants and haplotypes with HLA-B27 positive spondyloarthritis. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


Thibault V.,University Pierre and Marie Curie | Laperche S.,National Institute of blood transfusion | Thiers V.,Institute Pasteur Paris | Sayon S.,University Pierre and Marie Curie | And 3 more authors.
PLoS ONE | Year: 2013

Background & Aims:Strains responsible for acute hepatitis B infections (AHB) in France have not been characterized. This study was first designed to analyze the molecular epidemiology of AHB and second to describe the differences between AHB and chronic hepatitis B (CHB) exacerbations.Methods:This prospective study was based on the French mandatory notification system for AHB. 147 samples corresponding to declared cases were shipped to a central laboratory for classification as AHB or CHB according to the level of anti-HBc IgM and anti-HBc avidity.Results:Based on biological marker values and file examination, 75 cases (59%) were classified as AHB. Independently of the acute or chronic status, genotype A (57%), D (22%) and E (14%) were the most prevalent and no phylogenetic clustering was observed among HBV sequences (n=68). Precore or basal core-promoter variants were not particularly associated with disease severity but were more prevalent in CHB. No antiviral resistant strains or immune-escape HBsAg was observed. HBV viral loads in AHB or CHB were comparable but with opposite distributions. ALT levels reached 10 times the upper normal value in 94% of AHB but only in 24% of CHB.Conclusions:After rigorous classification, no major difference at the genetic level was found between HBV strains isolated from AHB and CHB. Absence of potentially deleterious variant detection is reassuring. When based upon HBsAg and anti-HBc IgM determination, AHB notification may falsely include more than 40% CHB, leading to an important risk of bias in national surveillance programs of AHB. © 2013 Thibault et al.


Lefrere J.-J.,National Institute of Blood Transfusion | Danic B.,National Institute of Blood Transfusion
Transfusion Medicine Reviews | Year: 2013

The representation of blood transfusion and donation of blood in the comic strip has never been studied. The comic strip, which is a relatively recent art, emerged in the 19th century before becoming a mass medium during the 20th century. We have sought, by calling on collectors and using the resources of Internet, comic strips devoted, wholly or in part, to the themes of transfusion and blood donation. We present some of them here in chronologic order, indicating the title, country of origin, year of publication, and names of authors. The theme of the superhero using transfusion to transmit his virtues or his powers is repeated throughout the 20th century in North American comic strips. More recently, comic strips have been conceived from the outset with a promotional aim. They perpetuate positive images and are directed toward a young readership, wielding humor to reduce the fear of venipuncture. Few comic strips denounce the abuse of the commercialization of products derived from the human body. The image of transfusion and blood donation given by the comic strips is not to be underestimated because their readership is primarily children, some of whom will become blood donors. Furthermore, if some readers are transfused during their lives, the impact of a memory more or less conscious of these childhood readings may resurface, both in hopes and in fears. © 2013 Elsevier Inc.


PubMed | National Institute of Blood Transfusion
Type: Evaluation Studies | Journal: Transfusion | Year: 2012

Originally pasted on walls and on locations reserved specially for that purpose, the poster is a medium for advertising and promotion to be seen on the streets and in public places. More recently, it has spread, in a smaller format, on dedicated indoor sites: billboards, columns, street furniture, and so forth. For transfusion, it appeared early on that the poster constitutes an important medium to promote blood donation. Thousands of posters supporting regional, national, or international blood donation campaigns have been created all over the planet, with a great variability of images, symbols, and slogans, which are particularly revealing about the image and the reality of blood donation. The topic is rich in information, particularly sociologic, on the variety of ways in which transfusion organizations promote blood donation. The authors present in this article the results of a study based on a total of 283 posters from nations on every continent, divided into 24 different themes.


PubMed | National Institute of Blood Transfusion
Type: Journal Article | Journal: Human mutation | Year: 2013

KLF1 encodes an erythroid transcription factor, whose essential function in erythropoiesis has been demonstrated by extensive studies in mouse models. The first reported mutations in human KLF1 were found in individuals with a rare and asymptomatic blood type called In(Lu). Here, we show that KLF1 haploinsufficiency is responsible for the In(Lu) blood type, after redefining this peculiar blood type using flow cytometry to quantify the levels of BCAM and CD44 on red blood cells. We found 10 (seven novel) heterozygous KLF1 mutations responsible for the In(Lu) blood type. Although most were obligate loss-of-function mutations due to the truncation of the DNA-binding domain of KLF1, three were missense mutations that were located in its DNA-binding domain and impaired the transactivation capacity of KLF1 in vitro. We further showed that the levels of the hemoglobin variants HbF and HbA(2) were increased in the In(Lu) blood type, albeit differently. The levels of the membrane glycoproteins BCAM and CD44 were also differently reduced on In(Lu) red blood cells. This biochemical and genetic analysis of the In(Lu) blood type tackles the phenotypic outcome of haploinsufficiency for a transcription factor.

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