UGT1A1 promoter polymorphisms and the development of hyperbilirubinemia and gallbladder disease in children with sickle cell anemia.

Abstract:

:Genetic modifiers contribute to phenotypic variability in patients with sickle cell anemia (SCA). The influence of the bilirubin UDP-glucuronosyltransferase (UGT) 1A1 (TA)(n)TAA promoter polymorphism on bilirubin levels and gallbladder disease in SCA was examined using prospectively collected data from the Cooperative Study of Sickle Cell Disease. A total of 324 children with HbSS (median age 6.9 years) had UGT1A1 genotyping; 243 (75%) had common (TA)(6) or (TA)(7) alleles, whereas 81 (25.0%) had variant (TA)(5) or (TA)(8) alleles. The UGT1A1 genotype significantly influenced average bilirubin levels for the common alleles: 6/6 genotype = 2.36 +/- 1.13 mg/dL, 6/7 genotype = 2.90 +/- 1.54 mg/dL, and 7/7 genotype = 4.24 +/- 2.11 mg/dL (P < 0.0001). Thirty-nine percent of children with the 7/7 genotype had documented gallbladder disease, compared with 18.2% with the 6/7 genotype and only 9.9% with the wildtype 6/6 UGT1A1 genotype (P = 0.001). To analyze the (TA)(5) and (TA)(8) variant alleles, three groups were generated, showing increasing bilirubin levels with increasing TA repeats and age. Group 3 (genotypes 6/8, 7/7, and 7/8) had a significantly greater rate of bilirubin change than Groups 1 (genotypes 5/6, 5/7, and 6/6) or 2 (genotype 6/7). These results validate previous smaller studies and confirm that the UGT1A1 promoter polymorphism exerts a powerful influence on bilirubin levels and the development of gallbladder disease in children with SCA. UGT1A1 genotyping should be considered as a screening tool for predicting children most likely to develop gallbladder disease at a young age.

journal_name

Am J Hematol

authors

Carpenter SL,Lieff S,Howard TA,Eggleston B,Ware RE

doi

10.1002/ajh.21264

subject

Has Abstract

pub_date

2008-10-01 00:00:00

pages

800-3

issue

10

eissn

0361-8609

issn

1096-8652

journal_volume

83

pub_type

杂志文章
  • Personalized risk prediction for event-free survival at 24 months in patients with diffuse large B-cell lymphoma.

    abstract::We recently defined event-free survival at 24 months (EFS24) as a clinically relevant outcome for patients with DLBCL. Patients who fail EFS24 have very poor overall survival, while those who achieve EFS24 have a subsequent overall survival equivalent to that of the age- and sex-matched general population. Here, we de...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.24223

    authors: Maurer MJ,Jais JP,Ghesquières H,Witzig TE,Hong F,Haioun C,Thompson CA,Thieblemont C,Micallef IN,Porrata LF,Ribrag V,Nowakowski GS,Casasnovas O,Bologna S,Morschhauser F,Morrison VA,Peterson BA,Macon WR,Copie-Bergman C

    更新日期:2016-02-01 00:00:00

  • Relationship between hematopoietic growth factors levels and hematological parameters in Argentine hemorrhagic fever.

    abstract::Argentine hemorrhagic fever (AHF) is a viral disease caused by Junin virus and characterized by hematologic and neurological involvement. The main hematologic features are leukopenia, thrombocytopenia, and bone marrow hypoplasia. Hematopoietic growth factors serum levels were measured by ELISA technique in forty-eight...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/(sici)1096-8652(200005)64:1<1::aid-ajh1>3.

    authors: Marta RF,Enria D,Molinas FC

    更新日期:2000-05-01 00:00:00

  • Properties of the exchangeable splenic platelets released into the circulation during exercise-induced thrombocytosis.

    abstract::The human spleen normally retains about one-third of the body's platelets in an exchangeable pool which can be released into the circulation by alpha-adrenergic stimulation. Some previous investigators concluded that the splenic platelet population was enriched in a subpopulation of large, young, dense platelets (mega...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830340302

    authors: Chamberlain KG,Tong M,Penington DG

    更新日期:1990-07-01 00:00:00

  • Post-transfusion purpura associated with alloimmunization against the platelet-specific antigen, Baka.

    abstract::Post-transfusion purpura (PTP) with severe thrombocytopenia occurred eight days after transfusion in a 28-year-old woman and responded to treatment with prednisone and plasma exchange. In contrast to nearly all previously studied cases of PTP, the patient's platelets were PlA1-positive and anti-PlA1 antibody could not...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830210110

    authors: Keimowitz RM,Collins J,Davis K,Aster RH

    更新日期:1986-01-01 00:00:00

  • Sickle cell anemia as a syndrome: a review of diagnostic features.

    abstract::Sickle cell (SS) disease is a complex of various genetic conditions. In some, homozygosity for the beta S gene may be present alone or in combination with the heterozygous or homozygous alpha-thalassemia-2 condition. Such combinations might ameliorate the clinical and hematological condition of the patient. The same m...

    journal_title:American journal of hematology

    pub_type: 杂志文章,评审

    doi:10.1002/ajh.2830060210

    authors: Huisman TH

    更新日期:1979-01-01 00:00:00

  • Evaluation of opioid induced nausea and vomiting in sickle cell disease.

    abstract::A common side effect of opioids is nausea and vomiting; however, the incidence in hospitalized patients receiving opioids for acute pain is unknown. We performed a retrospective study in adult patients with sickle cell disease admitted for an acute pain crisis during a six-month period to evaluate the incidence of nau...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.21031

    authors: Shord SS,Chew L,Villano J

    更新日期:2008-03-01 00:00:00

  • Systemic amyloidosis associated with chronic lymphocytic leukemia/small lymphocytic lymphoma.

    abstract::To clarify the presentation and course of patients with chronic lymphocytic leukemia (CLL) and amyloidosis. Mayo databases were interrogated for patients who carried a diagnosis of amyloidosis and CLL evaluated at Mayo Clinic, Rochester from January 1974 to October 2012. Charts were abstracted and data analyzed. Of th...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.23413

    authors: Kourelis TV,Gertz M,Zent C,Lacy M,Kyle R,Kapoor P,Zeldenrust S,Buadi F,Witzig T,Hayman S,Lust J,Russell S,Lin Y,Rajkumar VS,Kumar S,Leung N,Dingli D,Dispenzieri A

    更新日期:2013-05-01 00:00:00

  • Efficacy and safety of rituximab for systemic lupus erythematosus-associated immune cytopenias: A multicenter retrospective cohort study of 71 adults.

    abstract::The aim of the study was to assess the efficacy and safety of rituximab (RTX) for treating systemic lupus erythematosus (SLE)-associated immune cytopenias. This multicenter retrospective cohort study of adults from French referral centers and networks for adult immune cytopenias and SLE involved patients ≥18 years old...

    journal_title:American journal of hematology

    pub_type: 杂志文章,多中心研究

    doi:10.1002/ajh.24999

    authors: Serris A,Amoura Z,Canouï-Poitrine F,Terrier B,Hachulla E,Costedoat-Chalumeau N,Papo T,Lambotte O,Saadoun D,Hié M,Blanche P,Lioger B,Gottenberg JE,Godeau B,Michel M

    更新日期:2018-03-01 00:00:00

  • The use of ATG abrogates the antileukemic effect of cytomegalovirus reactivation in patients with acute myeloid leukemia receiving grafts from unrelated donors.

    abstract::Several studies provided evidence of a consistent antileukemic effect induced by cytomegalovirus (CMV) replication in acute myeloid leukemia (AML) patients receiving allogeneic hematopoietic stem cell transplantation (HSCT), however the use of antithymocyte globulin (ATG) as graft-versus-host disease prophylaxis, may ...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.23998

    authors: Busca A,Passera R,Pini M,Zallio F,Dellacasa C,Audisio E,Giaccone L,Maffini E,Costa C,Cavallo R,Bruno B

    更新日期:2015-06-01 00:00:00

  • Detection of BCL-6 rearrangements and p53 mutations in Malt-lymphomas.

    abstract::Twenty-seven lymphomas of mucosa-associated lymphoid tissue (MALT) derived from distinct anatomical sites were tested for the presence of genetic lesions commonly involved in B-cell lymphomagenesis, including activation of proto-oncogenes (BCL-1, BCL-2, BCL-6, and c-MYC), disruption of tumor suppressor loci (p53, 6q),...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/(sici)1096-8652(199712)56:4<206::aid-ajh2>

    authors: Gaidano G,Volpe G,Pastore C,Chiarle R,Capello D,Gloghini A,Perissinotto E,Savinelli F,Bosco M,Mazza U,Pileri S,Palestro G,Carbone A,Saglio G

    更新日期:1997-12-01 00:00:00

  • Gene therapies for transfusion dependent β-thalassemia: Current status and critical criteria for success.

    abstract::Thalassemia is one of the most prevalent monogenic diseases usually caused by quantitative defects in the production of β-globin leading to severe anemia. Technological advances in genome sequencing, stem cell selection, viral vector development, transduction and gene editing strategies now allow for efficient exvivo ...

    journal_title:American journal of hematology

    pub_type: 杂志文章,评审

    doi:10.1002/ajh.25909

    authors: Soni S

    更新日期:2020-09-01 00:00:00

  • A prospective newborn screening and treatment program for sickle cell anemia in Luanda, Angola.

    abstract::Over 300,000 infants are born annually with sickle cell anemia (SCA) in sub-Saharan Africa, and >50% die young from infection or anemia, usually without diagnosis of SCA. Early identification by newborn screening (NBS), followed by simple interventions dramatically reduced the mortality of SCA in the United States, bu...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.23578

    authors: McGann PT,Ferris MG,Ramamurthy U,Santos B,de Oliveira V,Bernardino L,Ware RE

    更新日期:2013-12-01 00:00:00

  • Proliferation of abnormal bone marrow histiocytes, an undesired effect of granulocyte macrophage-colony-stimulating factor therapy in a patient with Hurler's syndrome undergoing bone marrow transplantation.

    abstract::Granulocyte macrophage-colony-stimulating factor (GM-CSF) has shown promise as a means of alleviating leukopenia associated with a wide variety of disorders. It is currently undergoing evaluation as an adjunct to bone marrow transplantation but its use in patients with metabolic disorders, such as Hurler's syndrome (H...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830410411

    authors: Lang E,Cibull ML,Gallicchio VS,Henslee-Downey PJ,Davey DD,Messino MJ,Harder EJ

    更新日期:1992-12-01 00:00:00

  • Long-term results using hydroxyurea/phlebotomy for reducing secondary stroke risk in children with sickle cell anemia and iron overload.

    abstract::Children with sickle cell anemia (SCA) and a primary overt stroke are at high risk of recurrent (secondary) stroke. Chronic transfusion therapy dramatically reduces but does not eliminate this high risk, and inevitably results in transfusion-related hemosiderosis. We previously reported the use of hydroxyurea/phleboto...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.21986

    authors: Greenway A,Ware RE,Thornburg CD

    更新日期:2011-04-01 00:00:00

  • Confirming evidence for the clonal development and stem cell origin of Philadelphia chromosome-negative chronic myelogenous leukemia.

    abstract::A 74-year old woman with Ph1-negative chronic myelogenous leukemia (CML) and heterozygous for glucose-6-phosphate dehydrogenase (G6PD) was studied. Both A and B types of G6PD were found in skin. In contrast, white blood cells and platelets showed only a single G6PD type A. These results provide further evidence that P...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830170113

    authors: Kaye FJ,Najfeld V,Singer J,Cuttner J,Fialkow PJ

    更新日期:1984-07-01 00:00:00

  • von Willebrand disease R1374C: type 2A or 2M? A challenge to the revised classification. High frequency in the northwest of Spain (Galicia).

    abstract::Patients initially diagnosed with type 1 von Willebrand disease (VWD) have been reclassified as type 2 after a more exhaustive analysis in several studies. Our study's objectives were (1) to reanalyze patients that were previously diagnosed as type 1 to achieve a more accurate diagnosis and (2) to compare the von Will...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.20470

    authors: Penas N,Pérez-Rodríguez A,Torea JH,Lourés E,Noya MS,López-Fernández MF,Batlle J

    更新日期:2005-11-01 00:00:00

  • Acquired factor XI inhibitors in congenitally deficient patients.

    abstract::Four factor XI (F XI)-deficient patients are described, all of whom formed circulating anticoagulants against F X1. In the three most severely affected patients (F XI 0%-6% activity), the anticoagulant appeared to have been stimulated by plasma infusion. However, in the milder case (25% F XI activity), no infusion had...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830260405

    authors: Schnall SF,Duffy TP,Clyne LP

    更新日期:1987-12-01 00:00:00

  • A phase III randomized trial of high-dose CEOP + filgrastim versus standard-dose CEOP in patients with non-Hodgkin lymphoma: 10-year follow-up data: Australasian Leukaemia and Lymphoma Group (ALLG) NHL07 trial.

    abstract::Increasing dose intensity (DI) of chemotherapy for patients with aggressive non-Hodgkin lymphoma (NHL) may improve outcomes at the cost of increased toxicity. This issue was addressed in a randomized trial aiming to double the DI of myelosuppressive drugs. Between 1994 and 1999, 250 patients with previously untreated ...

    journal_title:American journal of hematology

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1002/ajh.23684

    authors: Hertzberg M,Matthews JP,Stone JM,Dubosq MC,Grigg A,Ellis D,Benson W,Browett P,Horvath N,Januszewicz H,Abdi E,Green M,Bonaventura A,Marlton P,Cannell P,Wolf M,ALLG.

    更新日期:2014-05-01 00:00:00

  • Idiopathic autoimmune thrombocytopenia: evidence for redistribution of platelet antibodies into the circulation after immunoadsorption treatment.

    abstract::Platelet antibodies are detectable in only about 50% of patients with chronic autoimmune thrombocytopenia (AITP). We determined platelet antibodies against GPIa/IIa, GPIb/IX, GPIIb/IIIa, and GPV and reticulated platelets in three female patients with AITP, before and after immunoadsorption treatment. None of the three...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.10312

    authors: Leitner GC,Stiegler G,Horvath M,Hoecker P,Sagaster P,Panzer S

    更新日期:2003-05-01 00:00:00

  • Tumor necrosis factor-alpha overproduction in Fanconi's anemia.

    abstract::Various in vitro studies and clinical observations suggest that Fanconi's anemia (FA) patients are unable to detoxify adequately superoxide anions (O2-) released by activated phagocytes. Recent studies have shown that certain lymphokines such as tumor necrosis factor-alpha (TNF-alpha) and interferon-gamma (IFN-gamma) ...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830420211

    authors: Schultz JC,Shahidi NT

    更新日期:1993-02-01 00:00:00

  • Coagulation factor XI is a contaminant in intravenous immunoglobulin preparations.

    abstract::A small number of thromboembolic events, including deep venous thrombosis and myocardial infarction, have been reported in patients receiving IVIG. These events have primarily occurred in patients receiving high-dose IVIG and have been attributed to an increase in blood viscosity. To test the hypothesis that a procoag...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/1096-8652(200009)65:1<30::aid-ajh5>3.0.co;

    authors: Wolberg AS,Kon RH,Monroe DM,Hoffman M

    更新日期:2000-09-01 00:00:00

  • Monocytic leukemia cutis diagnosed simultaneously with refractory anemia with monocytosis: a case report.

    abstract::A case of leukemia cutis (LC) of monocytic lineage in a patient with myelodysplastic syndrome (MDS) is presented. Cutaneous infiltrates were recognized concurrent with diagnosis of refractory anemia (RA) with monocytosis. Skin infiltrates subsequently spontaneously regressed although MDS progressed with increasing mon...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/1096-8652(200102)66:2<120::AID-AJH1027>3.0

    authors: Yavorkovsky LL,Zain J,Wu CD,Trivelli L,Cook P

    更新日期:2001-02-01 00:00:00

  • Potentiation of vincristine cytotoxicity by hormones: corticosteroids, androgens, estrogens and progestins.

    abstract::Using an in vitro system to evaluate the simultaneous use of two drugs, we previously have confirmed the synergism of vincristine and prednisolone cytotoxicity against lymphoid cells. Experiments were now carried out to determine whether other steroid hormones can be substituted for prednisolone. Partial or complete p...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830050405

    authors: Rosner F,Hirshaut Y,Grünwald HW,Deutsch S

    更新日期:1978-01-01 00:00:00

  • Myelodysplastic syndrome treatment with danazol and cis-retinoic acid.

    abstract::We prospectively treated 46 patients with favorable myelodysplastic syndrome classified as refractory anemia (RA), refractory cytopenia (RC), or refractory anemia with ringed sideroblasts (RARS). These patients received one of two schedules of 13-Cis-Retinoic Acid (low dose 80 mg daily for 6 months vs. high dose 200 m...

    journal_title:American journal of hematology

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1002/ajh.2830480405

    authors: Letendre L,Levitt R,Pierre RV,Schroeder G,Krook JA,Mailliard JE,Morton RF,Tschetter LK

    更新日期:1995-04-01 00:00:00

  • Monoclonal antibodies in the management of acute leukemia.

    abstract::This report reviews the diagnostic significance of immune markers, their relationship to patient outcome, and the therapeutic uses of monoclonal antibodies (MoAbs) in acute leukemia. Immunophenotyping allows for rapid and reproducible diagnosis in the majority of cases of acute leukemia. It is of particular importance...

    journal_title:American journal of hematology

    pub_type: 杂志文章,评审

    doi:10.1002/ajh.2830500307

    authors: Wang JC,Beauregard P,Soamboonsrup P,Neame PB

    更新日期:1995-11-01 00:00:00

  • Chemotaxis radioassays: a simplified, quantitative method using technetium-99m radiocolloid labeled granulocytes.

    abstract::Selective labeling of phagocytes in human blood can be achieved by incubation of unseparated, heparinized blood with 99mTc-sulfur colloid. We have developed a method for quantitation of granulocyte chemotaxis using granulocytes labeled by this technique. The method was found to be more accurate and less tedious to per...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830030402

    authors: English D,McPherson TA

    更新日期:1977-01-01 00:00:00

  • Laboratory evaluation of clopidogrel responsiveness by platelet function and genetic methods.

    abstract::Clopidogrel is a widely used antiplatelet agent that irreversibly inhibits platelet P2Y12 ADP receptors after conversion to an active metabolite. There are a number of laboratory tests capable of detecting clopidogrel-induced platelet inhibition and published literature correlates suboptimal clopidogrel response to ad...

    journal_title:American journal of hematology

    pub_type: 杂志文章,评审

    doi:10.1002/ajh.22112

    authors: Smock KJ,Saunders PJ,Rodgers GM,Johari V

    更新日期:2011-12-01 00:00:00

  • Outcome of children with newly diagnosed acute lymphoblastic leukemia treated with CCLG-ALL 2008: The first nation-wide prospective multicenter study in China.

    abstract::Acute lymphoblastic leukemia (ALL) is the most common malignancy among children. The trial Chinese Children Leukemia Group (CCLG)-ALL 2008 was a prospective clinical trial designed to improve treatment outcome of childhood ALL through the first nation-wide collaborative study in China. Totally 2231 patients were recru...

    journal_title:American journal of hematology

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1002/ajh.25124

    authors: Cui L,Li ZG,Chai YH,Yu J,Gao J,Zhu XF,Jin RM,Shi XD,Zhang LP,Gao YJ,Zhang RD,Zheng HY,Hu SY,Cui YH,Zhu YP,Zou Y,Ng MHL,Xiao Y,Li JH,Zhang YH,He HL,Xian Y,Wang TY,Li CK,Wu MY,Chinese Children Leukemia Gro

    更新日期:2018-07-01 00:00:00

  • ABO incompatibility in mismatched unrelated donor allogeneic hematopoietic cell transplantation for acute myeloid leukemia: A report from the acute leukemia working party of the EBMT.

    abstract::ABO incompatibility is commonly observed in stem cell transplantation and its impact in this setting has been extensively investigated. HLA-mismatched unrelated donors (MMURD) are often used as an alternative stem cell source but are associated with increased transplant related complications. Whether ABO incompatibili...

    journal_title:American journal of hematology

    pub_type: 杂志文章,多中心研究

    doi:10.1002/ajh.24771

    authors: Canaani J,Savani BN,Labopin M,Michallet M,Craddock C,Socié G,Volin L,Maertens JA,Crawley C,Blaise D,Ljungman PT,Cornelissen J,Russell N,Baron F,Gorin N,Esteve J,Ciceri F,Schmid C,Giebel S,Mohty M,Nagler A

    更新日期:2017-08-01 00:00:00

  • Comparative outcomes of myeloablative and reduced-intensity conditioning allogeneic hematopoietic cell transplantation for therapy-related acute myeloid leukemia with prior solid tumor: A report from the acute leukemia working party of the European societ

    abstract::Therapy-related acute myeloid leukemia (t-AML) arises as a late complication following antecedent solid tumors or hematologic diseases and their associated treatments. There are limited data regarding risk factors and outcomes following allogeneic hematopoietic cell transplantation (HCT) for t-AML following a prior so...

    journal_title:American journal of hematology

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1002/ajh.25395

    authors: Lee CJ,Labopin M,Beelen D,Finke J,Blaise D,Ganser A,Itälä-Remes M,Chevallier P,Labussière-Wallet H,Maertens J,Yakoub-Agha I,Bourhis JH,Mailhol A,Mohty M,Savani BN,Nagler A

    更新日期:2019-04-01 00:00:00