Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia.

Abstract:

:Sickle cell disease (SCD) is a relatively common inherited hemolytic anemia among individuals of African descent. Genetic factors might clarify clinical diversity of the disease and variations in treatment response. Some researchers investigated heme oxygenase-1 (HMOX1) or chemokine receptor 5 (CCR5Δ32) genotypes among SCD patients and their correlation with fetal hemoglobin (HbF) and disease severity. However, there are no such records among Arab nations. We aimed to estimate the prevalence of the HMOX1-413 A>T (rs2071746) and CCR5Δ32 (rs333) polymorphisms, and to assess their effect on SCD phenotype and HbF level among Egyptian patients. Polymerase chain reaction assay was used to determine these polymorphisms among 100 SCD patients and 100 healthy controls. Though not statistically significant, the frequency of individual carrying HMOX-1 polymorphic AT and TT genotypes in both patient and control groups was 92% and 85% respectively. Regarding CCR5Δ32 polymorphisms, all SCD patients harbored the wild genotype (100%), while the heteromutant genotype was encountered in 2% of our controls. Patients harboring mutant HMOX-1 had a less frequent vaso-occlusive crisis (VOC)/lifetime, less VOC in the last year, less incidence of stroke, less frequency of hospitalization, and responded more frequently to hydroxyurea with statistically significant differences (p = 0.028, 0.007, 0.046, 0.007, and 0.011 respectively). No significant associations with HbF level or other hematologic parameters were encountered among our cohort. Our study results suggest a protective effect of mutant HMOX-1 genotypes in ameliorating the phenotypic severity of the disease. HMOX1-413 A>T (rs2071746) polymorphisms might prove to be a prognostic marker among Egyptian SCD, but not CCR5Δ32 (rs333) polymorphisms.

journal_name

Ann Hematol

journal_title

Annals of hematology

authors

Bakr S,Khorshied M,Talha N,Jaffer KY,Soliman N,Eid K,El-Ghamrawy M

doi

10.1007/s00277-019-03697-9

subject

Has Abstract

pub_date

2019-08-01 00:00:00

pages

1805-1812

issue

8

eissn

0939-5555

issn

1432-0584

pii

10.1007/s00277-019-03697-9

journal_volume

98

pub_type

杂志文章
  • Current prognostic and predictive factors in follicular lymphoma.

    abstract::Follicular lymphoma (FL) is generally considered an indolent disorder. With modern day treatments, long remissions are often achieved both in the front-line and relapsed setting. However, a subset of patients has a more aggressive course and a worse outcome. Their identification is the main purpose of modern day progn...

    journal_title:Annals of hematology

    pub_type: 杂志文章,评审

    doi:10.1007/s00277-017-3154-z

    authors: Sorigue M,Sancho JM

    更新日期:2018-02-01 00:00:00

  • Impact of extramedullary plasmacytomas on outcomes according to treatment approach in newly diagnosed symptomatic multiple myeloma.

    abstract::The prognostic impact of extramedullary plasmacytomas (EMPs) on newly diagnosed symptomatic multiple myeloma (MM) was evaluated in the context of treatment approach including autologous stem cell transplantation (ASCT) and chemotherapy alone. A total of 275 consecutive patients with newly diagnosed MM were included, a...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s00277-014-2216-8

    authors: Lee SE,Kim JH,Jeon YW,Yoon JH,Shin SH,Eom KS,Kim YJ,Kim HJ,Lee S,Cho SG,Lee JW,Min WS,Park CW,Min CK

    更新日期:2015-03-01 00:00:00

  • MCNU in the treatment of essential thrombocythemia--a pilot study.

    abstract::The efficacy of a single dose of MCNU 150 mg was evaluated in nine symptomatic patients with essential thrombocythemia (ET). As the platelet counts increased during the following 4 weeks, an extra dose of 100 mg of MCNU was administered to three patients. All patients had thrombotic or hemorrhagic complications. Seven...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/BF01738474

    authors: Murakami H,Tamura J,Sawamura M

    更新日期:1993-05-01 00:00:00

  • Intercellular adhesion molecular 1 on monocytes mediates adhesion as well as trans-endothelial migration and can be downregulated using antisense oligonucleotides.

    abstract::The intercellular adhesion molecule 1 (ICAM-1) on endothelial cells is involved in the recruitment of leukocytes to inflammatory sites. In contrast to ICAM-1 expression on endothelial cells, little is known about its function in leukocytes in inflammation. Using ICAM-1-directed anti-sense oligodeoxyribonucleotides (OD...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s002770000168

    authors: Steidl U,Haas R,Kronenwett R

    更新日期:2000-08-01 00:00:00

  • Chemotherapy-induced mesenchymal stem cell damage in patients with hematological malignancy.

    abstract::Hematopoietic recovery after high-dose chemotherapy (HDC) in the treatment of hematological diseases may be slow and/or incomplete. This is generally attributed to progressive hematopoietic stem cell failure, although defective hematopoiesis may be in part due to poor stromal function. Chemotherapy is known to damage ...

    journal_title:Annals of hematology

    pub_type: 临床试验,杂志文章

    doi:10.1007/s00277-009-0896-2

    authors: Kemp K,Morse R,Wexler S,Cox C,Mallam E,Hows J,Donaldson C

    更新日期:2010-07-01 00:00:00

  • The prognostic value of circulating myeloblasts in patients with myelodysplastic syndromes.

    abstract::The prognostic value of peripheral blasts (PB) is not well-studied in patients with myelodysplastic syndromes (MDS). We evaluated the impact of PB on overall survival (OS) and transformation to acute myeloid leukemia (AML) in a large cohort. The MDS database at the Moffitt Cancer Center was retrospectively reviewed to...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s00277-017-3186-4

    authors: Duong VH,Padron E,Al Ali NH,Lancet JE,Hall J,Kwok B,Zhang L,Epling-Burnette PK,List AF,Komrokji RS

    更新日期:2018-02-01 00:00:00

  • Correlation between leukocytosis and thrombosis in Philadelphia-negative chronic myeloproliferative neoplasms.

    abstract::The evidence that leukocytes may contribute to the pathogenesis of thrombosis in Chronic Myeloproliferative Neoplasms is increasing but not definitive. To further enforces whether an increased leukocyte count is associated with thrombosis and whether this effect can be modulated by cytoreductive therapy, we analyzed t...

    journal_title:Annals of hematology

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s00277-009-0706-x

    authors: Caramazza D,Caracciolo C,Barone R,Malato A,Saccullo G,Cigna V,Berretta S,Schinocca L,Quintini G,Abbadessa V,Di Raimondo F,Siragusa S

    更新日期:2009-10-01 00:00:00

  • Dynamics of circulating t(14;18)-positive cells during first-line and subsequent lines of treatment in follicular lymphoma.

    abstract::In follicular lymphoma the t(14;18) might be useful as a tumor marker in predicting the quality of the response to treatment. We investigated whether analyzing numbers of t(14;18)-positive cells in peripheral blood correlated with remission status in individual patients receiving a variety of treatments. Numbers of ci...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s00277-003-0762-6

    authors: Mandigers CM,Meijerink JP,van 't Veer MB,Mensink EJ,Raemaekers JM

    更新日期:2003-12-01 00:00:00

  • CLIPI: a new prognostic index for indolent cutaneous B cell lymphoma proposed by the International Extranodal Lymphoma Study Group (IELSG 11).

    abstract::Indolent primary cutaneous B cell lymphomas (PCBCL) generally have a good prognosis, but they often relapse leading in some cases to extracutaneous disease and therefore, to poor survival. We developed a prognostic model to improve the therapeutic approach to these lymphomas. Two hundred and seventeen patients with di...

    journal_title:Annals of hematology

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s00277-010-1083-1

    authors: Mian M,Marcheselli L,Luminari S,Federico M,Cantonetti M,Sarris AH,Rossi A,Rambaldi A,Frontani M,Devizzi L,Gianni AM,Busetto M,Berti E,Martinelli G,Tsang RW,Ferreri AJ,Pinotti G,Pogliani E,Zucca E,Cortelazzo S

    更新日期:2011-04-01 00:00:00

  • Diffuse thyroid 18F-FDG uptake after R-CHOP therapy predicts favorable outcome in patients with DLBCL.

    abstract::Therapy-induced autoimmunity may mediate the destruction of cancer cells. Previous studies have demonstrated that presence of autoimmune thyroid disorder is associated with favorable outcome in patients with solid cancer. Patients with diffuse large B cell lymphoma (DLBCL) who achieved complete response on positron em...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s00277-015-2311-5

    authors: Song MK,Chung JS,Kim SJ,Kim SS,Shin HJ

    更新日期:2015-06-01 00:00:00

  • New prognostic model for extranodal natural killer/T cell lymphoma, nasal type.

    abstract::Extranodal natural killer/T cell lymphoma, nasal type (ENKTL) is an aggressive disease with a poor prognosis, requiring risk stratification in affected patients. We designed a new prognostic model specifically for ENKTL to identify high-risk patients who need more aggressive therapy. We retrospectively reviewed 158 pa...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s00277-014-2089-x

    authors: Cai Q,Luo X,Zhang G,Huang H,Huang H,Lin T,Jiang W,Xia Z,Young KH

    更新日期:2014-09-01 00:00:00

  • Transdifferentiation of mesenchymal stem cells into cardiomyocytes by direct cell-to-cell contact with neonatal cardiomyocyte but not adult cardiomyocytes.

    abstract::Recent studies have demonstrated that direct cell-to-cell interaction is one of the microenvironment factors for transdifferentiation of adult stem cells into cardiomyocytes. We investigated whether transdifferentiation of mesenchymal stem cells (MSCs) into cardiomyocytes was dependent on developmental stages of cocul...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s00277-005-1068-7

    authors: Yoon J,Shim WJ,Ro YM,Lim DS

    更新日期:2005-10-01 00:00:00

  • Clinical significance of SF3B1 mutations in Korean patients with myelodysplastic syndromes and myelodysplasia/myeloproliferative neoplasms with ring sideroblasts.

    abstract::Somatic mutations in the SF3B1 gene, a gene encoding the splicing factor 3B subunit 1, were recently reported in myelodysplastic syndromes (MDS), particularly in the presence of ring sideroblasts (RS). The authors investigated the prevalence and clinical significance of SF3B1 mutations in Korean patients with myeloid ...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s00277-013-1915-x

    authors: Seo JY,Lee KO,Kim SH,Kim K,Jung CW,Jang JH,Kim HJ

    更新日期:2014-04-01 00:00:00

  • Historical review. The light and shadow of Paul Kaznelson: his life and contribution to hematology.

    abstract::Paul Kaznelson is credited with describing the first case of pure red cell aplasia. He was also known for his contribution to the discovery of the therapeutic role of splenectomy in idiopathic thrombocytopenic purpura. Most of his academic works appeared in 1910s and 1920s, when he used to work in Karl-Ferdinand Unive...

    journal_title:Annals of hematology

    pub_type: 传,历史文章,杂志文章

    doi:10.1007/s00277-008-0553-1

    authors: Yoshida Y

    更新日期:2008-11-01 00:00:00

  • The significance of the hemochromatosis genetic variants in multiple myeloma in comparison to that of myelodysplastic syndrome.

    abstract::The clinical experience of the significant difference in iron metabolism between multiple myeloma and myelodysplasia prompted us to analyse patients according to mutation frequency in the hemochromatosis gene (HFE) known to participate in the regulation of iron metabolism. HFE genotyping results were also evaluated in...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s00277-006-0178-1

    authors: Várkonyi J,Demeter J,Tordai A,Andrikovics H

    更新日期:2006-12-01 00:00:00

  • The effects of air quality on haematological and clinical parameters in children with sickle cell anaemia.

    abstract::Sickle cell anaemia (SCA; HbSS) is characterised by its clinical variability, which is only partly explained by known genetic factors. Environmental factors are known to contribute to acute problems but their importance in chronic complications has not been analysed. We have studied 93 children with SCA in a single in...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s00277-008-0598-1

    authors: Mittal H,Roberts L,Fuller GW,O'Driscoll S,Dick MC,Height SE,Thein SL,Rees DC

    更新日期:2009-06-01 00:00:00

  • Successful alemtuzumab retreatment in progressive B-cell chronic lymphocytic leukemia: a multicenter survey in 30 patients.

    abstract::Although retreatment with alemtuzumab in relapsing B-cell chronic lymphocytic leukemia (CLL) may be beneficial, there has thus far been no thorough analysis available on this topic. Data were collected from 30 chemotherapy-pretreated patients with progressive CLL who had received alemtuzumab twice in consecutive, dist...

    journal_title:Annals of hematology

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s00277-011-1192-5

    authors: Fiegl M,Falkner F,Steurer M,Zojer N,Hopfinger G,Haslbauer F,Winder G,Voskova D,Andel J,Lang A,Brychtova Y,Mayer J,Greil R,Gastl G,Austrian Collaborative Study Group on Alemtuzumab in Chronic Lymphocytic Leukemia.,Czech Leuk

    更新日期:2011-09-01 00:00:00

  • L-tryptophan-related eosinophilia-myalgia syndrome possibly associated with a chronic B-lymphocytic leukemia.

    abstract::A female patient presenting with B-CLL and coincident eosinophilia-myalgia syndrome (EMS) after ingestion of L-tryptophan is described. The manifestations of EMS disappeared completely during treatment with cyclophosphamide/prednisone. and there was an intermittent clinical remission of CLL with absence of the monoclo...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s002770050449

    authors: Böhme A,Wolter M,Hoelzer D

    更新日期:1998-11-01 00:00:00

  • Increased cell apoptosis in bone marrow trephine biopsies and immunomagnetically isolated myeloid progenitor cells in patients with chronic idiopathic neutropenia.

    abstract::The frequency of apoptotic cells in bone marrow trephine biopsies and cytospins of immunomagnetically isolated myeloid progenitor cells was determined in 39 patients with chronic idiopathic neutropenia (CIN) and 12 hematologically normal individuals using the in situ end-labeling (ISEL) apoptosis detection method. We ...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s00277-003-0709-y

    authors: Koumaki V,Papadaki HA,Stefanaki K,Damianaki A,Gemetzi C,Katonis P,Vrentzos G,Eliopoulos GD

    更新日期:2003-10-01 00:00:00

  • Prevalence of increased osmotic fragility of erythrocytes in German blood donors: screening using a modified glycerol lysis test.

    abstract::We screened for increased osmotic fragility of erythrocytes in 1464 healthy German blood donors. The osmotic fragility was determined by an acidified glycerol lysis test (AGLT) using glycerol-sodium phosphate-buffered NaCl solution. Since the original test described by Zanella et al. [23] showed only low specificity f...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/BF01715351

    authors: Eber SW,Pekrun A,Neufeldt A,Schröter W

    更新日期:1992-02-01 00:00:00

  • A review of the European LeukemiaNet recommendations for the management of CML.

    abstract::Several guidelines and recommendations on the management of chronic myeloid leukemia (CML) have been prepared by several scientific societies. The European LeukemiaNet (ELN) appointed a panel of experts who submitted their recommendations to peer-reviewed scientific journals in 2006, 2009, and 2013. Here, we make a cr...

    journal_title:Annals of hematology

    pub_type: 杂志文章,评审

    doi:10.1007/s00277-015-2322-2

    authors: Baccarani M,Castagnetti F,Gugliotta G,Rosti G

    更新日期:2015-04-01 00:00:00

  • In vitro megakaryocyte expansion in patients with delayed platelet engraftment after autologous stem cell transplantation.

    abstract::Increasing the number of megakaryocytic cells in stem cell transplants by ex vivo expansion culture may provide an approach to accelerate platelet engraftment after high-dose chemotherapy. However, it is unknown if a relationship exists between the expansion potential of progenitor cells and the time to platelet engra...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s00277-002-0443-x

    authors: Drayer AL,Smit Sibinga CT,Esselink MT,de Wolf JT,Vellenga E

    更新日期:2002-04-01 00:00:00

  • Clinical heterogeneity of silent-gene b-thalassemia among Indians.

    abstract::This paper describes six Indian families in which silent-gene beta-thalassemia was encountered by us in the past 2 years. This stresses the importance of globin-chain synthesis in the diagnosis of beta-thalassemia. Of these six cases, five were diagnosed retrospectively when they had a homozygous beta-thalassemia offs...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/BF01715386

    authors: Nadkarni A,Pawar A,Mudera VC,Mohanty D,Colah R

    更新日期:1995-01-01 00:00:00

  • Erythropoietin production: evidence for multiple oxygen sensing pathways.

    abstract::The production of erythropoietin (Epo), the glycoprotein hormone which controls red blood cell formation, is regulated by feedback mechanisms sensing tissue oxygenation. The mechanism of the putative oxygen sensor has yet to be elucidated. There is evidence that at least two pathways participate in hypoxia signal tran...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s002770050514

    authors: Daghman NA,Elder GE,Savage GA,Winter PC,Maxwell AP,Lappin TR

    更新日期:1999-06-01 00:00:00

  • The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.

    abstract::Nondeletional hereditary persistence of fetal hemoglobin (nd-HPFH), a rare hereditary condition resulting in elevated levels of fetal hemoglobin (Hb F) in adults, is associated with promoter mutations in the human fetal globin (HBG1 and HBG2) genes. In this paper, we report a novel type of nd-HPFH due to a HBG2 gene p...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s00277-008-0643-0

    authors: Chassanidis C,Kalamaras A,Phylactides M,Pourfarzad F,Likousi S,Maroulis V,Papadakis MN,Vamvakopoulos NK,Aleporou-Marinou V,Patrinos GP,Kollia P

    更新日期:2009-06-01 00:00:00

  • Diverse phenotypes and transfusion requirements due to interaction of β-thalassemias with triplicated α-globin genes.

    abstract::Co-inheritance of triplicated α-genes can alter the clinical and hematological phenotypes of β-thalassemias. We evaluated the phenotypic diversity and transfusion requirements in β-thalassemia heterozygotes, homozygotes, and normal individuals with associated α-gene triplication. Clinical and hematological evaluation ...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s00277-015-2479-8

    authors: Mehta PR,Upadhye DS,Sawant PM,Gorivale MS,Nadkarni AH,Shanmukhaiah C,Ghosh K,Colah RB

    更新日期:2015-12-01 00:00:00

  • CTLA-4 polymorphisms are associated with treatment outcomes of patients with multiple myeloma receiving bortezomib-based regimens.

    abstract::Single-nucleotide polymorphisms (SNPs) of cytotoxic T lymphocyte antigen-4 (CTLA-4) are important risk factors associated with autoimmune diseases and malignancies. This study explored the association of CTLA-4SNPs with the development of myeloma and evaluated the outcome of patients receiving bortezomib-based regimen...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s00277-017-3203-7

    authors: Qin XY,Lu J,Li GX,Wen L,Liu Y,Xu LP,Chang YJ,Liu KY,Jiang ZF,Huang XJ

    更新日期:2018-03-01 00:00:00

  • Treatment of fungal infections in hematology and oncology--guidelines of the Infectious Diseases Working Party (AGIHO) of the German Society of Hematology and Oncology (DGHO).

    abstract::The Infectious Diseases Working Party of the German Society of Haematology and Oncology presents their guidelines for the treatment of fungal infections in patients with hematological and oncological malignancies. These guidelines are evidence-based, considering study results, case reports and expert opinions, using t...

    journal_title:Annals of hematology

    pub_type: 指南,杂志文章,实务指引

    doi:10.1007/s00277-003-0767-1

    authors: Böhme A,Ruhnke M,Buchheidt D,Karthaus M,Einsele H,Guth S,Heussel G,Heussel CP,Junghanss C,Kern WK,Kubin T,Maschmeyer G,Sezer O,Silling G,Südhoff T,Szelényi Dagger H,Ullmann AJ,Infectious Diseases Working Party (AGIHO) o

    更新日期:2003-10-01 00:00:00

  • A novel scoring system to predict the incidence of invasive fungal disease in salvage chemotherapies for malignant lymphoma.

    abstract::The requirement of antifungal prophylaxis has not been established in the chemotherapies for malignant lymphoma. This study was conducted to explore the incidence of invasive fungal diseases (IFD) and their risk factors in patients receiving salvage therapies for malignant lymphoma. We retrospectively analyzed 177 con...

    journal_title:Annals of hematology

    pub_type: 杂志文章

    doi:10.1007/s00277-014-2093-1

    authors: Takaoka K,Nannya Y,Shinohara A,Arai S,Nakamura F,Kurokawa M

    更新日期:2014-10-01 00:00:00

  • Quality of life during maintenance therapy with the anti-CD20 antibody rituximab in patients with B cell non-Hodgkin's lymphoma: results of a prospective randomized controlled trial.

    abstract::The introduction of rituximab into the primary treatment of malignant lymphomas of the B cell lineage has had a major impact on the management of these diseases. In addition, prolonged exposure to rituximab as maintenance therapy has been beneficial in patients with follicular lymphoma and mantle cell lymphoma. For th...

    journal_title:Annals of hematology

    pub_type: 杂志文章,随机对照试验

    doi:10.1007/s00277-008-0560-2

    authors: Witzens-Harig M,Reiz M,Heiss C,Benner A,Hensel M,Neben K,Dreger P,Kraemer A,Ho AD

    更新日期:2009-01-01 00:00:00