The current state of sickle cell trait: implications for reproductive and genetic counseling.

Abstract:

:Sickle cell trait (SCT) is unique among the carrier states that are identified during newborn screening. Unlike other heterozygous states for rare recessive diseases, SCT is exceedingly prevalent throughout regions of the world, making sickle cell disease one of the most common monogenetic diseases worldwide. Because of this high frequency, reproductive counseling is of paramount importance. In addition, unlike other carrier states, SCT seems to be a risk factor for several clinical complications, such as extreme exertional injury, chronic kidney disease, and venous thromboembolism. Increasing knowledge about these clinical outcomes can help inform genetic counseling recommendations. Expanding research and clinical efforts are needed to ensure that the promises of modern and precision medicine can be delivered to the millions of SCT carriers and their children.

journal_name

Blood

journal_title

Blood

authors

Pecker LH,Naik RP

doi

10.1182/blood-2018-06-848705

subject

Has Abstract

pub_date

2018-11-29 00:00:00

pages

2331-2338

issue

22

eissn

0006-4971

issn

1528-0020

pii

blood-2018-06-848705

journal_volume

132

pub_type

杂志文章,评审

相关文献

BLOOD文献大全
  • Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations.

    abstract::Fas (CD95/Apo-1) mutations were previously reported as the genetic defect responsible for human lymphoproliferative syndrome associated with autoimmune manifestations (also known as autoimmune lymphoproliferative syndrome or Canale-Smith syndrome). We have identified 14 new heterozygous Fas mutations. Analysis of pati...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Rieux-Laucat F,Blachère S,Danielan S,De Villartay JP,Oleastro M,Solary E,Bader-Meunier B,Arkwright P,Pondaré C,Bernaudin F,Chapel H,Nielsen S,Berrah M,Fischer A,Le Deist F

    更新日期:1999-10-15 00:00:00

  • Preaggregation reactions of platelets.

    abstract::Whether platelet volume increases during the morphological changes preceding aggregation has been investigated. Previous research is controversial; resistive-counting techniques reveal an increase, centrifugal methods do not. Platelets were sized with a computerized, resistive-particle counter before and after incubat...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Gear AR

    更新日期:1981-09-01 00:00:00

  • A site involving the "hybrid" and PSI homology domains of GPIIIa (beta 3-integrin subunit) is a common target for antibodies associated with quinine-induced immune thrombocytopenia.

    abstract::Drug-dependent antibodies (DDAbs) can cause the precipitous destruction of platelets if a patient is exposed to the drug for which the antibodies are specific. The molecular character of the epitopes recognized is poorly understood, and the mechanism by which drugs promote tight binding of these antibodies to platelet...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2002-07-2336

    authors: Peterson JA,Nyree CE,Newman PJ,Aster RH

    更新日期:2003-02-01 00:00:00

  • Thrombin functions during tissue factor-induced blood coagulation.

    abstract::Tissue factor-induced blood coagulation was studied in 20 individuals, for varying periods of time during 54 months, in contact pathway-inhibited whole blood at 37 degrees C and evaluated in terms of the activation of various substrates. After quenching over time with inhibitors, the soluble phases were analyzed for t...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood.v100.1.148

    authors: Brummel KE,Paradis SG,Butenas S,Mann KG

    更新日期:2002-07-01 00:00:00

  • MicroRNA-139-5p regulates proliferation of hematopoietic progenitors and is repressed during BCR-ABL-mediated leukemogenesis.

    abstract::MicroRNAs (miRNAs) have emerged as important regulators of the immune system. However, despite this prominence, our understanding of the function of miRNAs in the early hematopoietic stages is incomplete. In this study, we found that miR-139-5p negatively regulated the proliferation of hematopoietic stem cells and pro...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2016-02-702464

    authors: Choi J,Kim YK,Park K,Nah J,Yoon SS,Kim DW,Kim VN,Seong RH

    更新日期:2016-10-27 00:00:00

  • Platelet adhesion involves a novel interaction between vimentin and von Willebrand factor under high shear stress.

    abstract::The interaction between platelet receptor glycoprotein Ibα and the A1 domain of von Willebrand factor (VWF) mediates tethering/translocation of platelets to sites of vascular injury. Unexpectedly, we observed platelets translocating over A1A2A3 domains protein slower than on A1 domain at high shear stress. This observ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2013-10-530428

    authors: Da Q,Behymer M,Correa JI,Vijayan KV,Cruz MA

    更新日期:2014-04-24 00:00:00

  • Survival with bone marrow transplantation versus hydroxyurea or interferon for chronic myelogenous leukemia. The German CML Study Group.

    abstract::Hydroxyurea, interferon, and HLA-identical sibling bone marrow transplantation are common therapies for chronic myelogenous leukemia (CML) in chronic phase. Which is best is controversial. The purpose of this study was to compare survival of patients with CML receiving HLA-identical sibling transplants versus hydroxyu...

    journal_title:Blood

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Gale RP,Hehlmann R,Zhang MJ,Hasford J,Goldman JM,Heimpel H,Hochhaus A,Klein JP,Kolb HJ,McGlave PB,Passweg JR,Rowlings PA,Sobocinski KA,Horowitz MM

    更新日期:1998-03-01 00:00:00

  • Circulating IL-15 exists as heterodimeric complex with soluble IL-15Rα in human and mouse serum.

    abstract::IL-15 is an important cytokine for the function of the immune system, but the form(s) of IL-15 produced in the human body are not fully characterized. Coexpression of the single-chain IL-15 and the IL-15 receptor alpha (IL-15Rα) in the same cell allows for efficient production, surface display, and eventual cleavage a...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2011-10-384362

    authors: Bergamaschi C,Bear J,Rosati M,Beach RK,Alicea C,Sowder R,Chertova E,Rosenberg SA,Felber BK,Pavlakis GN

    更新日期:2012-07-05 00:00:00

  • Expression and factor-dependent modulation of the interleukin-3 receptor subunits on human hematopoietic cells.

    abstract::Interleukin-3 (IL-3) regulates growth and differentiation of multipotential as well as lineage-committed progenitor cells. The human IL-3 receptor (IL-3R) consists of the alpha and common beta (beta c) subunits. The alpha subunit (IL-3R alpha) is specific for IL-3 and binds IL-3 with low affinity. In contrast, the bet...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Sato N,Caux C,Kitamura T,Watanabe Y,Arai K,Banchereau J,Miyajima A

    更新日期:1993-08-01 00:00:00

  • Differentiation-associated changes in CD44 isoform expression during normal hematopoiesis and their alteration in chronic myeloid leukemia.

    abstract::CD44 is a widely expressed, multifunctional, cell-surface glycoprotein that has been implicated in the regulation of normal hematopoiesis. In addition, expression of particular isoforms of CD44 has been associated with malignant transformation and/or the acquisition of metastatic potential. In this study, we used two ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Ghaffari S,Dougherty GJ,Lansdorp PM,Eaves AC,Eaves CJ

    更新日期:1995-10-15 00:00:00

  • Physiologic hypoxia promotes maintenance of CML stem cells despite effective BCR-ABL1 inhibition.

    abstract::C-abl oncogene 1, nonreceptor tyrosine kinase (ABL1) kinase inhibitors such as imatinib mesylate (imatinib) are effective in managing chronic myeloid leukemia (CML) but incapable of eliminating leukemia stem cells (LSCs), suggesting that kinase-independent pathways support LSC survival. Given that the bone marrow (BM)...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2013-07-511907

    authors: Ng KP,Manjeri A,Lee KL,Huang W,Tan SY,Chuah CT,Poellinger L,Ong ST

    更新日期:2014-05-22 00:00:00

  • Rituximab blocks binding of radiolabeled anti-CD20 antibodies (Ab) but not radiolabeled anti-CD45 Ab.

    abstract::Rituximab therapy is associated with a long in vivo persistence, yet little is known about the effect of circulating rituximab on B-cell non-Hodgkin lymphoma (B-NHL) targeting by the other available anti-CD20 monoclonal antibodies (MoAbs) (131)iodine-tositumomab and (90)yttrium-ibritumomab tiuxetan. Therefore we asses...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2008-01-132142

    authors: Gopal AK,Press OW,Wilbur SM,Maloney DG,Pagel JM

    更新日期:2008-08-01 00:00:00

  • Magnetic resonance imaging for diagnosis of recurrent ipsilateral deep vein thrombosis.

    abstract::The diagnosis of recurrent ipsilateral deep vein thrombosis (DVT) is challenging, because persistent intravascular abnormalities after previous DVT often hinder a diagnosis by compression ultrasonography. Magnetic resonance direct thrombus imaging (MRDTI), a technique without intravenous contrast and with a 10-minute ...

    journal_title:Blood

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1182/blood.2019004114

    authors: van Dam LF,Dronkers CEA,Gautam G,Eckerbom Å,Ghanima W,Gleditsch J,von Heijne A,Hofstee HMA,Hovens MMC,Huisman MV,Kolman S,Mairuhu ATA,Nijkeuter M,van de Ree MA,van Rooden CJ,Westerbeek RE,Westerink J,Westerlund E,Krof

    更新日期:2020-04-16 00:00:00

  • Hematopoiesis on cellulose ester membranes. XI. Induction of new bone and a hematopoietic microenvironment by matrix factors secreted by marrow stromal cells.

    abstract::Cellulose ester membranes (CEM) were coated with stromal cells from bone marrow (BM) or bone and implanted intraperitoneally (IP) in CAF1 mice for intervals of 1 to 6 months. Previous studies indicated that matrix factors [glycoproteins (GPs), proteoglycans (PGs), and glycosaminoglycans (GAGs)] were secreted by the re...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Knospe WH,Husseini SG,Fried W

    更新日期:1989-07-01 00:00:00

  • Allogeneic marrow grafting for treatment of aplastic anemia: a follow-up on long-term survivors.

    abstract::Eleven of twenty-four patients with severe aplastic anemia given marrow grafts from HLA-identical siblings between October 1970 and March 1973 are alive with normal marrow function and continued evidence of engraftment 3-5 yr later. Ten have been leading normal lives with no immunosuppressive or other drug therapy sin...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Storb R,Thomas ED,Buckner CD,Clift RA,Fefer A,Fernando LP,Giblett ER,Johnson FL,Neiman PE

    更新日期:1976-10-01 00:00:00

  • Results of a phase 2 study of pacritinib (SB1518), a JAK2/JAK2(V617F) inhibitor, in patients with myelofibrosis.

    abstract::Pacritinib (SB1518) is a Janus kinase 2 (JAK2), JAK2(V617F), and Fms-like tyrosine kinase 3 inhibitor that does not inhibit JAK1. It demonstrated a favorable safety profile with promising efficacy in phase 1 studies in patients with primary and secondary myelofibrosis (MF). This multicenter phase 2 study further chara...

    journal_title:Blood

    pub_type: 杂志文章,多中心研究

    doi:10.1182/blood-2013-02-484832

    authors: Komrokji RS,Seymour JF,Roberts AW,Wadleigh M,To LB,Scherber R,Turba E,Dorr A,Zhu J,Wang L,Granston T,Campbell MS,Mesa RA

    更新日期:2015-04-23 00:00:00

  • Elevated Mcl-1 perturbs lymphopoiesis, promotes transformation of hematopoietic stem/progenitor cells, and enhances drug resistance.

    abstract::Diverse human cancers with poor prognosis, including many lymphoid and myeloid malignancies, exhibit high levels of Mcl-1. To explore the impact of Mcl-1 overexpression on the hematopoietic compartment, we have generated vavP-Mcl-1 transgenic mice. Their lymphoid and myeloid cells displayed increased resistance to a v...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2010-04-281071

    authors: Campbell KJ,Bath ML,Turner ML,Vandenberg CJ,Bouillet P,Metcalf D,Scott CL,Cory S

    更新日期:2010-10-28 00:00:00

  • Hematologic and immunomodulatory effects of an interleukin-1 receptor antagonist coinfusion during low-dose endotoxemia in healthy humans.

    abstract::Endotoxin is a component of gram-negative bacteria that causes hematologic and immunologic changes through its induction of cytokines. Interleukin-1 receptor antagonist (IL-1Ra) is a naturally occurring inhibitor of IL-1 that competes with IL-1 for occupancy of cell-surface receptors but possesses no agonist activity....

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Granowitz EV,Porat R,Mier JW,Orencole SF,Callahan MV,Cannon JG,Lynch EA,Ye K,Poutsiaka DD,Vannier E

    更新日期:1993-11-15 00:00:00

  • Development of a marrow transplant regimen for acute leukemia using targeted hematopoietic irradiation delivered by 131I-labeled anti-CD45 antibody, combined with cyclophosphamide and total body irradiation.

    abstract::In an attempt to decrease the relapse rate after bone marrow transplantation (BMT) for advanced acute leukemia, we initiated studies using 131I-labeled anti-CD45 antibody (BC8) to deliver radiation specifically to hematopoietic tissues, followed by a standard transplant preparative regimen. Biodistribution studies wer...

    journal_title:Blood

    pub_type: 临床试验,杂志文章

    doi:

    authors: Matthews DC,Appelbaum FR,Eary JF,Fisher DR,Durack LD,Bush SA,Hui TE,Martin PJ,Mitchell D,Press OW

    更新日期:1995-02-15 00:00:00

  • Lymphocyte aggregation in response to adrenergic stimulation.

    abstract::A nonanemic chronic lymphocytic leukemia patient with nearly 500,000 lymphocytes/microL underwent leukapheresis when she presented with CNS symptoms and retinal vascular engorgement. Respiratory distress developed during the cell separator run, which led us to ask whether the procedure could have changed the adhesive ...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Hammerschmidt DE,Jeanneret C,Husak M,Lobell M,Jacob HS

    更新日期:1988-05-01 00:00:00

  • Interleukin-33 induces angiogenesis and vascular permeability through ST2/TRAF6-mediated endothelial nitric oxide production.

    abstract::Interleukin-33 (IL-33), a member of the IL-1 cytokine family, is emerging as a new regulator of immune responses and inflammatory vascular diseases. Although IL-33 and its cognate receptor ST2 appear to be expressed in vascular cells, the precise role of IL-33 in the vasculature has not been determined. In this study,...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2009-02-203372

    authors: Choi YS,Choi HJ,Min JK,Pyun BJ,Maeng YS,Park H,Kim J,Kim YM,Kwon YG

    更新日期:2009-10-01 00:00:00

  • Alloantibodies in von Willebrand disease.

    abstract::The development of alloantibodies against von Willebrand factor (VWF) represents a rare but serious complication of treatment of von Willebrand disease (VWD), occurring in ~5% to 10% of type 3 VWD patients. Affected patients can present with a range of symptoms, including lack or loss of hemostatic response to infused...

    journal_title:Blood

    pub_type: 杂志文章,评审

    doi:10.1182/blood-2012-10-462085

    authors: James PD,Lillicrap D,Mannucci PM

    更新日期:2013-08-01 00:00:00

  • CLL-cells induce IDOhi CD14+HLA-DRlo myeloid-derived suppressor cells that inhibit T-cell responses and promote TRegs.

    abstract::Myeloid-derived suppressor cells (MDSCs) represent a heterogeneous population that shares certain characteristics including an aberrant myeloid phenotype and the ability to suppress T cells. MDSCs have been predominantly studied in malignant diseases and findings suggest involvement in tumor-associated immune suppress...

    journal_title:Blood

    pub_type: 临床试验,杂志文章

    doi:10.1182/blood-2013-12-546416

    authors: Jitschin R,Braun M,Büttner M,Dettmer-Wilde K,Bricks J,Berger J,Eckart MJ,Krause SW,Oefner PJ,Le Blanc K,Mackensen A,Mougiakakos D

    更新日期:2014-07-31 00:00:00

  • IFNgamma differentially controls the development of idiopathic pneumonia syndrome and GVHD of the gastrointestinal tract.

    abstract::Although proinflammatory cytokines are key mediators of tissue damage during graft-versus-host disease (GVHD), IFNgamma has previously been attributed with both protective and pathogenic effects. We have resolved this paradox by using wild-type (wt), IFNgamma(-/-), and IFNgammaR(-/-) mice as donors or recipients in we...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2006-12-063982

    authors: Burman AC,Banovic T,Kuns RD,Clouston AD,Stanley AC,Morris ES,Rowe V,Bofinger H,Skoczylas R,Raffelt N,Fahy O,McColl SR,Engwerda CR,McDonald KP,Hill GR

    更新日期:2007-08-01 00:00:00

  • Keratinocyte growth factor and androgen blockade work in concert to protect against conditioning regimen-induced thymic epithelial damage and enhance T-cell reconstitution after murine bone marrow transplantation.

    abstract::Myeloablative conditioning results in thymic epithelial cell (TEC) injury, slow T-cell reconstitution, and a high risk of opportunistic infections. Keratinocyte growth factor (KGF) stimulates TEC proliferation and, when given preconditioning, reduces TEC injury. Thymocytes and TECs express androgen receptors, and expo...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2008-01-136531

    authors: Kelly RM,Highfill SL,Panoskaltsis-Mortari A,Taylor PA,Boyd RL,Holländer GA,Blazar BR

    更新日期:2008-06-15 00:00:00

  • Characterization of interleukin-2 receptors expressed on acute leukemic B cells.

    abstract::More than 90% of both unfractionated and blast-enriched T cell-depleted mononuclear cells (MNC) from a patient with a morphologically and phenotypically unclassified acute leukemia expressed interleukin 2 receptors (IL2-R), whereas 50% unfractionated MNC displayed monocyte/myeloid- (My7, My9, and OKM1) and B cell-rest...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Bentaboulet M,Allouche M,Tsapis A,Jasmin C,Georgoulias V

    更新日期:1987-10-01 00:00:00

  • Immunogenic nature of a Pol gene product of HTLV-III/LAV.

    abstract::The present studies were initiated to define the coding region of a 34 kilodalton (kd) protein (p34) frequently observed with antibodies from HTLV-III/LAV-infected people by immunoblotting and radioimmunoprecipitation (RIP) techniques. We have directly mapped this viral protein to the pol gene of HTLV-III/LAV by radio...

    journal_title:Blood

    pub_type: 杂志文章

    doi:

    authors: Allan JS,Coligan JE,Lee TH,Barin F,Kanki PJ,M'Boup S,McLane MF,Groopman JE,Essex M

    更新日期:1987-01-01 00:00:00

  • C-reactive protein enhances IgG-mediated phagocyte responses and thrombocytopenia.

    abstract::Immune-mediated platelet destruction is most frequently caused by allo- or autoantibodies via Fcγ receptor-dependent phagocytosis. Disease severity can be predicted neither by antibody isotype nor by titer, indicating that other factors play a role. Here we show that the acute phase protein C-reactive protein (CRP), a...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2014-05-579110

    authors: Kapur R,Heitink-Pollé KM,Porcelijn L,Bentlage AE,Bruin MC,Visser R,Roos D,Schasfoort RB,de Haas M,van der Schoot CE,Vidarsson G

    更新日期:2015-03-12 00:00:00

  • Visualization of nitric oxide production by individual platelets during adhesion in flowing blood.

    abstract::Nitric oxide (NO) exerts vasodilatatory, antiplatelet, antioxidant, and antiproliferative effects. Endothelium-derived NO has been shown to be of crucial importance in cardiovascular protection, whereas evidence that NO is synthesized by platelets and regulates platelet function is still controversial. By using a sens...

    journal_title:Blood

    pub_type: 杂志文章

    doi:10.1182/blood-2014-06-579474

    authors: Cozzi MR,Guglielmini G,Battiston M,Momi S,Lombardi E,Miller EC,De Zanet D,Mazzucato M,Gresele P,De Marco L

    更新日期:2015-01-22 00:00:00

  • How targeted therapy disrupts the treatment paradigm for acquired TTP: the risks, benefits, and unknowns.

    abstract::Insights into immune-mediated thrombotic thrombocytopenic purpura (iTTP) pathophysiology have led to novel targeted therapies. Immunomodulatory strategies target anti-ADAMTS13 antibodies: rituximab is effective in inducing responses in refractory/relapsed TTP and increasing relapse-free survival; caplacizumab targets ...

    journal_title:Blood

    pub_type: 杂志文章,评审

    doi:10.1182/blood.2019000954

    authors: Mazepa MA,Masias C,Chaturvedi S

    更新日期:2019-08-01 00:00:00