A new DEL variant caused by exon 8 deletion.

Abstract:

BACKGROUND:A 28-year-old woman of Lebanese origin experienced two stillbirths. At the time, serology typed her red blood cells as being group A D- and found an anti-D in her serum sample. Molecular biology analysis, however, showed that she was in fact RHD+. STUDY DESIGN AND METHODS:To better characterize this case, a full investigation including family members was undertaken. Classical serology techniques and DNA and RNA analysis were performed whenever possible. RESULTS:Serology results showed that the patient's father and two brothers were D-. RHD genotyping demonstrated that her two brothers were indeed RHD+. Polymerase chain reaction (PCR) amplification was performed on each RHD 10 exons. Exon 8 did not amplify for the patient, her father, and her two brothers. Her mother and sister had exon 8. Messenger RNA analysis showed five RHD transcripts. The longest transcript was missing exon 8 but had a part of intron 7 inserted instead. Genomic DNA sequencing revealed a 995-bp deletion including part of intron 7, exon 8, and intron 8. This mutation, RHD(delEx8), was found to express a DEL in adsorption-elution. To facilitate the screening of this new DEL allele, a simple PCR-based assay was designed. CONCLUSION:This novel allele represents the first observation of a large deletion at the genomic level within the RHD gene in Caucasian persons.

journal_name

Transfusion

journal_title

Transfusion

authors

Richard M,Perreault J,Constanzo-Yanez J,Khalifé S,St-Louis M

doi

10.1111/j.1537-2995.2007.01199.x

subject

Has Abstract

pub_date

2007-05-01 00:00:00

pages

852-7

issue

5

eissn

0041-1132

issn

1537-2995

pii

TRF01199

journal_volume

47

pub_type

杂志文章
  • Prospective surveillance of D- recipients of D+ apheresis platelets: alloimmunization against D is not detected.

    abstract:BACKGROUND:Recent retrospective studies indicate that D- recipients of D+ apheresis platelets (PLTs) are not alloimmunized to D. Our hospital policy is to offer RhIG to D- women of childbearing age who received D+ apheresis PLTs but not to other D- recipients of D+ apheresis PLTs. We instituted prospective surveillance...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1111/trf.12972

    authors: Weinstein R,Simard A,Ferschke J,Vauthrin M,Bailey JA,Greene M

    更新日期:2015-06-01 00:00:00

  • Impact of cytomegalovirus (CMV) antibody reflex testing in the transfusion service on management of CMV-seronegative blood inventory.

    abstract:BACKGROUND:Our goal is to minimize unnecessary cytomegalovirus (CMV)-seronegative blood transfusion to preserve the CMV-seronegative blood inventory for patients who are identified as CMV seronegative. STUDY DESIGN AND METHODS:We implemented a CMV antibody reflex testing protocol for patients who require CMV-compatibl...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1111/j.1537-2995.2010.02643.x

    authors: Fontaine MJ,Jurado C,Miller E,Viele M,Goodnough LT

    更新日期:2010-08-01 00:00:00

  • Duration of red blood cell storage and survival of transfused patients (CME).

    abstract:BACKGROUND:Disquieting reports of increased complication and death rates after transfusions of red blood cells (RBCs) stored for more than 14 days prompted us to perform an observational retrospective cohort study of mortality in relation to storage time. STUDY DESIGN AND METHODS:We conducted a cohort study utilizing ...

    journal_title:Transfusion

    pub_type: 杂志文章,多中心研究

    doi:10.1111/j.1537-2995.2010.02583.x

    authors: Edgren G,Kamper-Jørgensen M,Eloranta S,Rostgaard K,Custer B,Ullum H,Murphy EL,Busch MP,Reilly M,Melbye M,Hjalgrim H,Nyrén O

    更新日期:2010-06-01 00:00:00

  • Continuous- and semicontinuous-flow blood centrifugation systems: therapeutic applications, with plasma-, platelet, lympha-, and eosinapheresis.

    abstract::Blood centrifugation, with a continuous-flow or semicontinuous-flow system, was used in the treatment of 17 patients with various hematologic disorders. Total plasma exchange (TPE) controlled symptoms of hyperviscosity and arrested bleeding in three patients. In two patients, TPE made is possible to perform urgent sur...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1046/j.1537-2995.1977.17578014576.x

    authors: Pineda AA,Brzica SM Jr,Taswell HF

    更新日期:1977-09-01 00:00:00

  • Adoptive therapy by transfusing expanded donor murine natural killer T cells can suppress acute graft-versus-host disease in allogeneic bone marrow transplantation.

    abstract:BACKGROUND:Invariant natural killer T cells (iNKT cells) may suppress graft-versus-host disease (GVHD) after allogeneic transplantation. The purpose of this study was to investigate the therapeutic potential of iNKT cells from major histocompatibility complex (MHC)-mismatched donors for preventing GVHD after allogeneic...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1111/j.1537-2995.2009.02395.x

    authors: Yang J,Gao L,Liu Y,Ren Y,Xie R,Fan H,Qian K

    更新日期:2010-02-01 00:00:00

  • Reduced ferritin levels in individuals with non-O blood group: results from the Danish Blood Donor Study.

    abstract:BACKGROUND:Genomewide association studies have reported alleles in the ABO locus to be associated with ferritin levels. These studies warrant the investigation of a possible association between the ABO blood group and ferritin levels. We aimed to explore if ABO blood group is associated with iron stores expressed as fe...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1111/trf.14364

    authors: Rigas AS,Berkfors AA,Pedersen OB,Sørensen E,Nielsen KR,Larsen MH,Paarup HM,Wandall HH,Erikstrup C,Hjalgrim H,Ullum H

    更新日期:2017-12-01 00:00:00

  • Comparative evaluation of 14 immunoassays for detection of antibodies to the human T-lymphotropic virus types I and II using panels of sera from Sweden and West Africa.

    abstract:BACKGROUND:A new generation of assays for the detection of human T-lymphotropic virus types I and II (HTLV-I/II) antibodies has been released. These assays incorporate HTLV-I- and HTLV-II-specific antigens, and some are based on new assay principles. Comparative evaluation data that include these new as well as previou...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1046/j.1537-2995.1999.39080845.x

    authors: Andersson S,Thorstensson R,Ramirez KG,Krook A,von Sydow M,Dias F,Biberfeld G

    更新日期:1999-08-01 00:00:00

  • Improvement in appropriate autologous donations with local education: 1987 to 1989.

    abstract::Preoperative autologous blood donation for elective surgery patients at university hospitals was underused in the past. More recently, national educational efforts have been made. To test the impact of local surgeon interviews and education, in 1988 the same local educational program was instituted at three university...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1046/j.1537-2995.1992.32692367202.x

    authors: Toy PT,McVay PA,Strauss RG,Stehling LC,Ahn DK

    更新日期:1992-07-01 00:00:00

  • Transfusion-associated transmission of human T-lymphotropic virus types I and II: experience of a regional blood center.

    abstract::During a 22-month period, 78,000 blood donors were screened for human T-lymphotropic virus types I and II (HTLV-I/II) at Belle Bonfils Memorial Blood Center (Denver, Colorado). Positive donors and the living recipients of their previously donated blood components were evaluated for risk factors and symptoms related to...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1046/j.1537-2995.1993.33393174445.x

    authors: Herr V,Ambruso D,Fairfax M,Neumann A,Swanson P,Lee H

    更新日期:1993-03-01 00:00:00

  • Rapid estimation of the glycerol concentration of frozen-thawed red cells prepared by the agglomeration technique.

    abstract::The glycerol concentration of frozen-thawed red cells must be less than 2 percent to prevent hemolysis upon transfusion. Three methods were investigated for monitoring the glycerol concentration of frozen-thawed red cells prepared by the agglomeration technique. The supernatant osmolality and glycerol concentration we...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1046/j.1537-2995.1983.23483276865.x

    authors: Bongiovanni MB,Hughlett MA,Wurzel HA

    更新日期:1983-07-01 00:00:00

  • Prevalence, incidence, and residual risk of human immunodeficiency virus and hepatitis C virus infections among United States blood donors since the introduction of nucleic acid testing.

    abstract:BACKGROUND:Nucleic acid testing (NAT) for human immunodeficiency virus (HIV) and hepatitis C virus (HCV) was introduced for blood donation screening in the United States in 1999. This study analyzes temporal trends of these two infections since NAT introduction. STUDY DESIGN AND METHODS:Donation data from 1999 to 2008...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1111/j.1537-2995.2010.02622.x

    authors: Zou S,Dorsey KA,Notari EP,Foster GA,Krysztof DE,Musavi F,Dodd RY,Stramer SL

    更新日期:2010-07-01 00:00:00

  • Safety of blood donation by individuals over age 70 and their contribution to the blood supply in five developed countries: a BEST Collaborative group study.

    abstract:BACKGROUND:Some countries impose an upper age limit on whole blood and double RBC donation while others do not. We evaluated the safety of blood donation in older individuals (≥71 years), and their contribution to the blood supply of five countries. STUDY DESIGN AND METHODS:Twelve blood center members of the Biomedica...

    journal_title:Transfusion

    pub_type: 杂志文章,多中心研究

    doi:10.1111/trf.15132

    authors: Goldman M,Germain M,Grégoire Y,Vassallo RR,Kamel H,Bravo M,Irving DO,Di Angelantonio E,Steele WR,O'Brien SF,Biomedical Excellence for Safer Transfusion Collaborative (BEST) Investigators.

    更新日期:2019-04-01 00:00:00

  • Managing a tissue recall in a large academic hospital.

    abstract:BACKGROUND:In October 2005, a recall of human tissue for implantation was initiated because one recovery center obtained tissues from donors who were not screened properly for infectious diseases. The Food and Drug Administration (FDA) and Centers for Disease Control (CDC) recommended notifying affected patients and of...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1111/j.1537-2995.2007.01211.x

    authors: Steelman VM,Schlueter AJ

    更新日期:2007-05-01 00:00:00

  • Incidence of transfusion reactions: a multicenter study utilizing systematic active surveillance and expert adjudication.

    abstract:BACKGROUND:Prevalence estimates of the serious hazards of transfusion vary widely. We hypothesized that the current reporting infrastructure in the United States fails to capture many transfusion reactions and undertook a multicenter study using active surveillance, data review, and adjudication to test this hypothesis...

    journal_title:Transfusion

    pub_type: 杂志文章,多中心研究

    doi:10.1111/trf.13730

    authors: Hendrickson JE,Roubinian NH,Chowdhury D,Brambilla D,Murphy EL,Wu Y,Ness PM,Gehrie EA,Snyder EL,George Hauser R,Gottschall JL,Kleinman S,Kakaiya R,Strauss RG,National Heart, Lung, and Blood Institute (NHLBI) Recipient Epidemio

    更新日期:2016-10-01 00:00:00

  • Long-term production of pre-existing alloantibodies to E and c after allogenic BMT in a patient with aplastic anemia resulting in delayed hemolytic anemia.

    abstract:BACKGROUND:Delayed hemolysis mediated by long-term production of pre-existing recipient-derived antibodies directed against donor RBC antigens after allogenic BMT is an unusual complication of hematopoietic transplantation. CASE REPORT:A 26-year-old man with aplastic anemia had pre-existing alloantibodies to E and c. ...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1046/j.1537-2995.2003.00303.x

    authors: Izumi N,Fuse I,Furukawa T,Uesugi Y,Tsuchiyama J,Toba K,Togashi K,Yamada K,Ohtake S,Saitoh Y,Yanagisawa N,Aizawa Y

    更新日期:2003-02-01 00:00:00

  • Effects of colloidal resuscitation fluids on the neutrophil respiratory burst.

    abstract:BACKGROUND:Experimental studies have revealed that gelatin and HES produce increased neutrophil respiratory burst activity. It was investigated whether 3-percent gelatin (MW 35,000) and three types of 6-percent HES (MW 70,000; degree of substitution, 0.5; 200,000/0.5; 450,000/0.7) preparations can influence superoxide ...

    journal_title:Transfusion

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1046/j.1537-2995.2001.41081064.x

    authors: Jaeger K,Heine J,Ruschulte H,Jüttner B,Scheinichen D,Kuse ER,Piepenbrock S

    更新日期:2001-08-01 00:00:00

  • Factors affecting umbilical cord blood stem cell suitability for transplantation in an in utero collection program.

    abstract:BACKGROUND:The greatest limiting factor in the use of umbilical cord blood (UCB) for transplantations is the number of stem cells available in any given collected unit. This study examines maternal, neonatal, and obstetric factors that influence the suitability for banking and transplantation of UCB units collected in ...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1111/trf.12340

    authors: Keersmaekers CL,Mason BA,Keersmaekers J,Ponzini M,Mlynarek RA

    更新日期:2014-03-01 00:00:00

  • A general method for concentrating blood samples in preparation for counting very low numbers of white cells.

    abstract:BACKGROUND:To count extremely low levels of white cells (WBCs) in WBC-reduced blood components, a larger volume of sample must be processed. The goal was to develop an all-purpose method for concentrating the samples obtained from WBC-reduced red cells or platelets. The method was designed to be compatible with a varie...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1046/j.1537-2995.1997.37397240209.x

    authors: Szuflad P,Dzik WH

    更新日期:1997-03-01 00:00:00

  • Multiple hemolytic transfusion reactions misinterpreted as severe vaso-occlusive crisis in a patient with sickle cell disease.

    abstract:BACKGROUND:Hemolytic transfusion reactions are a rare, yet serious complication of red blood cell (RBC) transfusion. Patients with sickle cell disease (SCD) are at an increased risk for such reactions, because they are prone to make alloantibodies against transfused RBCs, complicating this integral part of their diseas...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1111/trf.15010

    authors: Dean CL,Maier CL,Roback JD,Stowell SR

    更新日期:2019-02-01 00:00:00

  • Quantitative and thermodynamic studies of erythrocytic ABO antigens.

    abstract::This paper presents recent data from quantitative and thermodynamic investigations on A and B erythrocyte antigens. In regard to weak A phenotypes on the basis of quantitative data, practically no gap is observed from the weakest Aend to the strongest A3. Weak B phenotypes give a similar distribution. However, a more ...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1046/j.1537-2995.1976.16677060242.x

    authors: Salmon C,Lopez M,Cartron JP,Bouguerra A

    更新日期:1976-11-01 00:00:00

  • Establishing an antigen-negative red blood cell inventory in a hospital-based blood bank.

    abstract:BACKGROUND:Our blood bank is part of a large academic institution with an active sickle cell anemia program. We provide sickle patients with blood phenotypically matched for C/c, E/e, and K antigens. Since licensed reagents are available for phenotyping C/c, E/e, and K on an automated blood analyzer, we decided to eval...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1111/trf.12270

    authors: Le N,Harach ME,Kay JK,Brown RP,Everetts JN,Herman JH

    更新日期:2014-02-01 00:00:00

  • Assessment of cord blood hematopoietic cell parameters before and after cryopreservation.

    abstract:BACKGROUND:The testing of cord blood (CB) progenitor and stem cell units for transplantation suitability involves enumeration of total nucleated cells before freezing. CD34+ cell counts may also be a means of determining suitability. Studies have been conducted to evaluate how specific storage conditions influence cell...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1111/j.1537-2995.2007.01327.x

    authors: Kurtz J,Seetharaman S,Greco N,Moroff G

    更新日期:2007-09-01 00:00:00

  • Cesarean section due to fetal distress increases the number of stem cells in umbilical cord blood.

    abstract:BACKGROUND:Umbilical cord blood (UCB) can be used as hematopoietic stem cell source for transplantation. The success of a transplantation is highly correlated with the number of total nucleated cells (TNCs) and CD34+ cells in the UCB. Certain obstetric factors increase the yield of stem cells in the UCB. It is necessar...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1111/j.1537-2995.2007.01617.x

    authors: Manegold G,Meyer-Monard S,Tichelli A,Pauli D,Holzgreve W,Troeger C

    更新日期:2008-05-01 00:00:00

  • Blood group incidence and Escherichia coli bacterial sepsis.

    abstract::Many strains of Escherichia coli possess an antigen that reacts with naturally occurring antibodies to human red cell B antigens. The authors tested the hypothesis that the presence of naturally occurring anti-B isoagglutinins afford protection against the development of E. coli septicemia. The blood groups found in 1...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1046/j.1537-2995.1986.26687043620.x

    authors: Wittels EG,Lichtman HC

    更新日期:1986-11-01 00:00:00

  • Effect of screening for red cell antibodies, other than anti-D, to detect hemolytic disease of the fetus and newborn: a population study in the Netherlands.

    abstract:BACKGROUND:Hemolytic disease of the fetus and newborn (HDFN) is a severe disease, resulting from maternal red cell (RBC) alloantibodies directed against fetal RBCs. The effect of a first-trimester antibody screening program on the timely detection of HDFN caused by antibodies other than anti-D was evaluated. STUDY DES...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1111/j.1537-2995.2007.01625.x

    authors: Koelewijn JM,Vrijkotte TG,van der Schoot CE,Bonsel GJ,de Haas M

    更新日期:2008-05-01 00:00:00

  • Resolution by erythrocytapheresis of the exposure of an Rh-negative person to Rh-positive cells: an alternative treatment.

    abstract::Acute trauma with severe bleeding caused the unavoidable transfusion of Rh-positive red cells (RBCs) to a young, childless, Rh-negative woman during surgery. Of the 10 units of RBCs given, 6 were Rh positive. An alternative treatment for large-volume exposure involves the removal of some of the Rh-positive cells trans...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1046/j.1537-2995.1993.33693296819.x

    authors: Werch J,Todd C

    更新日期:1993-06-01 00:00:00

  • Selective protection of RBCs against photodynamic damage by the band 3 ligand dipyridamole.

    abstract:BACKGROUND:All studied photosensitizers for virus inactivation impair RBCs. To reduce damage to the RBCs without affecting virucidal activity, selective protection of the RBCs is necessary. The ability of the band 3 ligand, dipyridamole, to react with singlet oxygen and to increase the selectivity of photosterilization...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1046/j.1537-2995.2000.40111330.x

    authors: vanSteveninck J,Trannoy LL,Besselink GA,Dubbelman TM,Brand A,de Korte D,Verhoeven AJ,Lagerberg JW

    更新日期:2000-11-01 00:00:00

  • Transient hemolysis due to anti-D and anti-A1 produced by engrafted donor's lymphocytes after allogeneic unmanipulated haploidentical hematopoietic stem cell transplantation.

    abstract:BACKGROUND:Development of de novo alloantibodies against recipient's red blood cell (RBC) antigens by engrafted donor's lymphocytes is a known phenomenon in the setting of allogeneic hematopoietic stem cell transplantation (HSCT). This situation is usually clinically insignificant. We report a case of early clinically ...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1111/trf.14232

    authors: Bailén R,Kwon M,Pérez-Corral AM,Pascual C,Buño I,Balsalobre P,Serrano D,Gayoso J,Díez-Martín JL,Anguita J

    更新日期:2017-10-01 00:00:00

  • A single-center prospective study on the safety of plasma exchange procedures using a double-viral-inactivated and prion-reduced solvent/detergent fresh-frozen plasma as the replacement fluid in the treatment of thrombotic microangiopathy.

    abstract:BACKGROUND:Patients presenting with acute episodes of thrombotic microangiopathies (TMAs) require urgent access to plasma exchange (PEX). OctaplasLG, a solvent/detergent fresh-frozen plasma product that has undergone viral inactivation and prion reduction step, has been used in our institution since 2013, replacing Oct...

    journal_title:Transfusion

    pub_type: 临床试验,杂志文章

    doi:10.1111/trf.13877

    authors: Vendramin C,McGuckin S,Alwan F,Westwood JP,Thomas M,Scully M

    更新日期:2017-01-01 00:00:00

  • Effects of UVB radiation on cytokine generation, cell adhesion molecules, and cell activation markers in T-lymphocytes and peripheral blood HPCs.

    abstract:BACKGROUND:Immunomodulatory effects of UV light have increasingly become a focus in transfusion medicine, BMT and transplantation immunology. In the transplant setting, the use of UVB radiation may reduce or abolish T-cell activation without compromising either bone marrow (BM) engraftment or graft-versus-leukemia effe...

    journal_title:Transfusion

    pub_type: 杂志文章

    doi:10.1046/j.1537-2995.2000.40030361.x

    authors: Lankford KV,Mosunjac M,Hillyer CD

    更新日期:2000-03-01 00:00:00