Haplotypes and levels of fetal hemoglobin and G gamma to A gamma ratios in Mediterranean patients with thalassemia minor and major.

Abstract:

:This study concerned the gamma chain composition of Hb F and the haplotypes of 44 patients with beta-thalassemia major or intermedia and many of their relatives. Seventeen patients came from Northern (Turkish) Cyprus, 12 from the Istanbul area, and 15 from Macedonia and Bulgaria. Analysis of the A gamma T-G gamma-A gamma I ratio was made by HPLC, while haplotyping involved seven restriction sites. Specific haplotypes were present in certain populations; haplotype I [1] is the dominant type among North Cypriot thalassemia patients. Numerous types were seen in the patients from the Balkan countries. A direct relationship between the A gamma to G gamma ratios and the haplotypes, which exists among black beta-thalassemia heterozygotes [3], was also observed among these Mediterranean patients, although such analyses were considerably complicated by extensive blood transfusion therapy. Haplotypes without the Hinc II restriction site within the psi beta gene were associated with lower G gamma values than those that had this polymorphic site. The A gamma T chain was observed in a small number of beta-thalassemia homozygotes and heterozygotes. Three thalassemia chromosomes with slightly different haplotypes and one normal chromosome with a related haplotype were associated with the gamma 75 Ile----Thr substitution. A few patients with a thalassemia intermedia were heterozygotes for beta-thalassemia with either haplotypes V or VII [1] while the "nonthalassemic" chromosome had a haplotype I, which is the most common "beta-thalassemic" haplotype among the Mediterranean population(s). Detailed analyses of this chromosome have not been completed.

journal_name

Am J Hematol

authors

Aksoy M,Kutlar A,Efremov GD,Nikolov N,Petkov G,Reese AL,Harano T,Chen SS,Huisman TH

doi

10.1002/ajh.2830200103

subject

Has Abstract

pub_date

1985-09-01 00:00:00

pages

7-16

issue

1

eissn

0361-8609

issn

1096-8652

journal_volume

20

pub_type

杂志文章
  • The prognostic value of positron emission tomography performed after two courses (INTERIM-PET) of standard therapy on treatment outcome in early stage Hodgkin lymphoma: A multicentric study by the fondazione italiana linfomi (FIL).

    abstract::This retrospective study included 246 patients with a new diagnosis of Hodgkin Lymphoma (HL) with a localized-stage (IA-IIA), consecutively admitted from January 2002 to December 2008, by twelve Italian hematological centers on behalf of Fondazione Italiana Linfomi (FIL). Patients were staged at baseline and after two...

    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.23994

    authors: Rigacci L,Puccini B,Zinzani PL,Biggi A,Castagnoli A,Merli F,Balzarotti M,Stelitano C,Spina M,Vitolo U,Stefoni V,Levis A,Gotti M,Rosaria S,Maria SP,Bosi A,Gallamini A

    更新日期:2015-06-01 00:00:00

  • Efficacy and safety of rituximab in adults' warm antibody autoimmune haemolytic anemia: retrospective analysis of 27 cases.

    abstract::To better assess the efficacy and safety of rituximab in adults' warm antibody autoimmune hemolytic anemia (wAIHA), we conducted a retrospective study including 27 adults (mean age 49.7 +/- 21 years) with either primary (n = 17) or secondary (n = 10) wAIHA. On average, the patients received 2.1 +/- 1.4 treatment lines...

    journal_title:American journal of hematology

    pub_type: 临床试验,杂志文章

    doi:10.1002/ajh.21341

    authors: Bussone G,Ribeiro E,Dechartres A,Viallard JF,Bonnotte B,Fain O,Godeau B,Michel M

    更新日期:2009-03-01 00:00:00

  • CD71 phenotype and the value of gallium imaging in lymphomas.

    abstract::Tumor cells of 14 cases of non-Hodgkin lymphomas and 2 cases of Hodgkin disease were tested for the presence of the transferrin receptor (CD71) by flow cytofluorimetry before 67gallium imaging. It appeared that expression of CD71 phenotype was closely related to the positivity of gallium scan before therapy. We feel t...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830360313

    authors: Feremans W,Bujan W,Neve P,Delville JP,Schandene L

    更新日期:1991-03-01 00:00:00

  • Treatment and disease-related complications in multiple myeloma: Implications for survivorship.

    abstract::New treatments have transformed multiple myeloma into a chronic disease. Hence, optimal management of treatment and disease-related complications remains a critical component of survivorship care. Survivorship care model in cancers requiring a fixed-duration therapy may not be applicable to myeloma, since patients are...

    journal_title:American journal of hematology

    pub_type: 杂志文章,评审

    doi:10.1002/ajh.25764

    authors: Chakraborty R,Majhail NS

    更新日期:2020-06-01 00:00:00

  • Heparin-induced thrombocytopenia and thrombosis.

    abstract::Heparin, employed clinically for more than 50 years, is still a widely used anticoagulant. Unfortunately, some patients given this agent develop thrombocytopenia and thrombosis. Because this side effect can have catastrophic consequences, it is imperative that all clinicians caring for patients who receive heparin hav...

    journal_title:American journal of hematology

    pub_type: 杂志文章,评审

    doi:10.1002/ajh.20490

    authors: Davoren A,Aster RH

    更新日期:2006-01-01 00:00:00

  • Anthracycline-based therapy of de novo acute myeloid leukemia in adults: failure of first-cycle cytoreduction to predict second-cycle outcome.

    abstract::During 1971-1988, 194 adults with de novo acute myeloid leukemia (AML) received initial therapy at the University of Minnesota with an anthracycline-based regimen. Seventy-two of the 194 required further chemotherapy and received a second cycle of the same or similar therapy; 63 of these 72 were evaluable. For each ma...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830470305

    authors: Hammerschmidt DE,Crea MT

    更新日期:1994-11-01 00:00:00

  • Erythrocyte incorporation of ingested stable isotope of iron (58Fe).

    abstract::Because of a possible hazard from the use of radioisotopes to determine iron absorption by infants, the use of stable isotopes for this purpose has much appeal. We have applied the method of inductively coupled plasma mass spectrometry (ICP/MS) to determine the mass ratio, 58Fe/57Fe, in blood before and after oral adm...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830210307

    authors: Janghorbani M,Ting BT,Fomon SJ

    更新日期:1986-03-01 00:00:00

  • Inefficacy of intravenous immunoglobulin in patients with low-risk thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome.

    abstract:OBJECTIVE:To assess the efficacy of intravenous immunoglobulin (IVIG), in comparison with plasma exchange (PE), in the treatment of patients with thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS). DESIGN:Prospective, nonrandomized comparative study. SETTING:Hematology department in a general hos...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830410305

    authors: Finazzi G,Bellavita P,Falanga A,Viero P,Barbui T

    更新日期:1992-11-01 00:00:00

  • Molecular and hematological characterization of HPFH-6/Indian deletion-inversion Ggamma(Agammadeltabeta)0-thalassemia and Ggamma(Agammadeltabeta)0-thalassemia/HbE in Thai patients.

    abstract::The hereditary persistence of fetal hemoglobin (HPFH)-6 is sporadically found in Thailand whereas the deletion-inversion type (G)gamma((A)gamma delta beta)(0)-thalassemia is described among Indians. We report a hitherto un-described case in which these two defects co-segregate. He was a 3-year-old Thai boy who had a f...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.10202

    authors: Fucharoen S,Pengjam Y,Surapot S,Fucharoen G,Sanchaisuriya K

    更新日期:2002-10-01 00:00:00

  • Hodgkin lymphoma: 2012 update on diagnosis, risk-stratification, and management.

    abstract:DISEASE OVERVIEW:Hodgkin lymphoma (HL) is an uncommon B-cell lymphoid malignancy affecting 9,000 new patients annually and representing approximately 11% of all lymphomas in the United States. DIAGNOSIS:HL is composed of two distinct disease entities; the more commonly diagnosed classical HL and the rare nodular lymph...

    journal_title:American journal of hematology

    pub_type: 杂志文章,评审

    doi:10.1002/ajh.23348

    authors: Ansell SM

    更新日期:2012-12-01 00:00:00

  • Bleeding incidence and risk factors among cancer patients treated with anticoagulation.

    abstract::Compared to age-matched controls, cancer patients have increased risk of bleeding when treated with anticoagulation. However, there are little data regarding bleeding as it relates to anticoagulant choice and other risk factors. We evaluated the six-month incidence of bleeding among patients treated with anticoagulati...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.25494

    authors: Angelini DE,Radivoyevitch T,McCrae KR,Khorana AA

    更新日期:2019-07-01 00:00:00

  • Studies of the effects of trimethoprim and sulfamethoxazole on human granulopoiesis.

    abstract::Trimethoprim and sulfamethoxazole (Bactrim r) is a widely used antibiotic combination effective against a broad spectrum of microbial organisms. There are reports of neutropenia developing during even brief periods of oral therapy, particularly in individuals with either folate deficiency or increased folate requireme...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830230102

    authors: Bjornson BH,McIntyre AP,Harvey JM,Tauber AI

    更新日期:1986-09-01 00:00:00

  • World Health Organization-defined classification of myeloproliferative neoplasms: morphological reproducibility and clinical correlations--the Danish experience.

    abstract::We examined inter- and intraobserver reproducibility and concordance between histological diagnosis and independently collected clinical findings in a large series of patients with the major subtypes of myeloproliferative neoplasms (MPNs) and controls. Seven hematopathologists reviewed 272 bone marrow biopsies includi...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.23554

    authors: Madelung AB,Bondo H,Stamp I,Loevgreen P,Nielsen SL,Falensteen A,Knudsen H,Ehinger M,Dahl-Sørensen R,Mortensen NB,Svendsen KD,Lange T,Ralfkiaer E,Nielsen K,Hasselbalch HC,Thiele J

    更新日期:2013-12-01 00:00:00

  • Erythroleukemia: in vitro studies of erythropoiesis.

    abstract::We studied the growth of erythroid burst-forming units (BFU-E) and erythroid colony forming units (CFU-E) from bone marrow and blood in six patients with erythroleukemia. Five patients grew CFU-E, while BFU-E were found in the marrow of two and in the peripheral blood of only one patient. In all cases with colony grow...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830050403

    authors: Newcomb MM,Balducci L,Coleman MB,Steinberg MH

    更新日期:1978-01-01 00:00:00

  • Effects of granulocyte-macrophage colony-stimulating factor (GM-CSF) on neutrophil kinetics and function in normal human volunteers.

    abstract::Granulocyte-macrophage colony-stimulating factor (GM-CSF) (250 microg/m2) was administered subcutaneously to 7 normal volunteers for up to 14 days to study its effects on neutrophil kinetics and function. With treatment, blood neutrophil counts rose gradually to peak at 3 1/2 times baseline by day 14. At day 5 marrow ...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/(sici)1096-8652(199801)57:1<7::aid-ajh2>3.

    authors: Dale DC,Liles WC,Llewellyn C,Price TH

    更新日期:1998-01-01 00:00:00

  • Prevalence of polycythemia vera and essential thrombocythemia.

    abstract::Polycythemia vera (PV) and essential thrombocythemia (ET) are common types of myeloproliferative disorders (MPD), the prevalence of which has not been well documented in the United States. Recent breakthroughs in the molecular etiology of these disorders and the accelerated development of targeted pharmacotherapeutics...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.21129

    authors: Ma X,Vanasse G,Cartmel B,Wang Y,Selinger HA

    更新日期:2008-05-01 00:00:00

  • Membrane cation and anion transport activities in erythrocytes of hereditary spherocytosis: effects of different membrane protein defects.

    abstract::Hereditary spherocytosis (HS) is due to different membrane protein defects (i.e., deficiency of spectrin and ankyrin, band 3, or band 4.2). In order to gain new insight into the relationships between band 3 function and proteins associated with the cytoskeleton, we studied erythrocyte anion transport activity in HS ch...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/(sici)1096-8652(199707)55:3<121::aid-ajh1>

    authors: De Franceschi L,Olivieri O,Miraglia del Giudice E,Perrotta S,Sabato V,Corrocher R,Iolascon A

    更新日期:1997-07-01 00:00:00

  • The pathophysiological relationship and clinical significance of left atrial function and left ventricular diastolic dysfunction in β-thalassemia major.

    abstract::Iron deposition in combination with inflammatory and immunogenetic factors is involved in the pathophysiology of cardiac dysfunction in β-thalassemia major. We investigated the mechanical and endocrine function of the left atrium and ventricle to identify early signs of dysfunction. We studied 90 patients (mean age: 2...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.23581

    authors: Kostopoulou AG,Tsiapras DP,Chaidaroglou AS,De Giannis DE,Farmakis D,Kremastinos DT

    更新日期:2014-01-01 00:00:00

  • Teardrop-shaped red cells in autoimmune hemolytic anemia.

    abstract::The presence of teardrop-shaped red cells in peripheral blood has traditionally been felt to reflect altered marrow architecture, namely myelofibrosis. We evaluated two patients with splenomegaly, moderately severe hemolytic anemia due to warm-reactive IgG anti-red cell autoantibody, and bone marrow erythroid hyperpla...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830210410

    authors: Farolino DL,Rustagi PK,Currie MS,Doeblin TD,Logue GL

    更新日期:1986-04-01 00:00:00

  • CD7, CD34-positive stem cell leukemia arising in agnogenic myeloid metaplasia.

    abstract::Agnogenic myeloid metaplasia (AMM) is a chronic myeloproliferative disorder arising from a single hematopoietic cell. Approximately 5% of reported cases of AMM have terminated in leukemic crisis; however, the precise characteristics of the leukemic cells have rarely been reported. We report a case of AMM that occurred...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830440111

    authors: Tasaka T,Nagai M,Murao S,Yamaguchi M,Kitanaka A,Sasaki K,Murata M,Tanaka T,Kuwabara H,Ikeda K

    更新日期:1993-09-01 00:00:00

  • The first two Japanese cases of severe type I congenital plasminogen deficiency with ligneous conjunctivitis: successful treatment with direct thrombin inhibitor and fresh plasma.

    abstract::A 71-year-old woman and her elder sister developed ligneous conjunctivitis after ocular surgery. Laboratory tests demonstrated that the proband and her sister had 6.6% and 8.1% of plasminogen activity, and 1.2 and 1.4 mg/dl of antigen, respectively. Thus, they were diagnosed as having severe type I plasminogen deficie...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.21402

    authors: Suzuki T,Ikewaki J,Iwata H,Ohashi Y,Ichinose A

    更新日期:2009-06-01 00:00:00

  • Minimal residual disease monitoring in t(8;21) acute myeloid leukemia based on RUNX1-RUNX1T1 fusion quantification on genomic DNA.

    abstract::Although acute myeloid leukemia (AML) with t(8;21) belongs to the favorable risk AML subset, relapse incidence may reach 30% in those patients. RUNX1-RUNX1T1 fusion transcript is a well-established marker for minimal residual disease (MRD) monitoring. In this study, we investigated the feasibility and performances of ...

    journal_title:American journal of hematology

    pub_type: 杂志文章,随机对照试验

    doi:10.1002/ajh.23696

    authors: Duployez N,Nibourel O,Marceau-Renaut A,Willekens C,Helevaut N,Caillault A,Villenet C,Celli-Lebras K,Boissel N,Jourdan E,Dombret H,Figeac M,Preudhomme C,Renneville A

    更新日期:2014-06-01 00:00:00

  • Enhancement of sickle erythrocyte adherence to endothelium by autologous platelets.

    abstract::The increased adhesiveness of sickle erythrocytes (SS RBC) to endothelial cells has been confirmed in a static system utilizing fresh umbilical vein endothelium. Adherence of SS RBC to the endothelium was as great in the presence of calcium-containing buffer as when incubated in plasma. SS RBC suspended in autologous ...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830340110

    authors: Antonucci R,Walker R,Herion J,Orringer E

    更新日期:1990-05-01 00:00:00

  • HTLV-I-seronegative, genome-positive adult T-cell leukemia: report of a case.

    abstract::An HTLV-I-seronegative case of adult T-cell leukemia (ATL) carrying the HTLV-I genome is reported. Screening serological tests were negative and Western blot analysis revealed only a faint band for HTLV-I p24. Polymerase chain reaction (PCR) disclosed the presence of HTLV-I gag, pol, env, pX, and LTR sequences in the ...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1096-8652(199610)53:2<133::AID-AJH13

    authors: Kubota T,Ikezoe T,Hakoda E,Sawada T,Taguchi H,Miyoshi I

    更新日期:1996-10-01 00:00:00

  • Haploidentical transplantation outcomes for secondary acute myeloid leukemia: Acute Leukemia Working Party (ALWP) of the European Society for Blood and Marrow Transplantation (EBMT) study.

    abstract::Secondary acute myeloid leukemia (sAML) traditionally has inferior outcomes compared to de novo AML. Allogeneic hematopoietic cell transplantation (HCT) is the sole potentially curative therapy. This study analyzes the outcomes for unmanipulated haploidentical HCT (haploHCT) for sAML using the Acute Leukemia Working P...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.25087

    authors: Li Z,Labopin M,Ciceri F,Blaise D,Tischer J,Ehninger G,Van Lint MT,Koc Y,Santarone S,Forcade E,Castagna L,Polge E,Mailhol A,Ruggeri A,Mohty M,Savani BN,Nagler A

    更新日期:2018-06-01 00:00:00

  • Mutant calreticulin-expressing cells induce monocyte hyperreactivity through a paracrine mechanism.

    abstract::Mutations in the calreticulin gene (CALR) were recently identified in approximately 70-80% of patients with JAK2-V617F-negative essential thrombocytosis and primary myelofibrosis. All frameshift mutations generate a recurring novel C-terminus. Here we provide evidence that mutant calreticulin does not accumulate effic...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.24245

    authors: Garbati MR,Welgan CA,Landefeld SH,Newell LF,Agarwal A,Dunlap JB,Chourasia TK,Lee H,Elferich J,Traer E,Rattray R,Cascio MJ,Press RD,Bagby GC,Tyner JW,Druker BJ,Dao KH

    更新日期:2016-02-01 00:00:00

  • Overexpression of cyclooxygenase-2 in multiple myeloma: association with reduced survival.

    abstract::Cyclooxygenases (COX) are key enzymes in the conversion of arachidonic acid to prostaglandins. Several studies have shown a relation between angiogenesis and COX-2 expression. Elevated expression of cyclooxygenase-2 (COX-2), however, has not been reported in multiple myeloma (MM) in the literature. The aim of this stu...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.20460

    authors: Cetin M,Buyukberber S,Demir M,Sari I,Sari I,Deniz K,Eser B,Altuntas F,Camci C,Oztürk A,Turgut B,Vural O,Unal A

    更新日期:2005-11-01 00:00:00

  • Familial type II protein C deficiency associated with warfarin-induced skin necrosis and bilateral adrenal hemorrhage.

    abstract::A family is described in which venous thromboembolic disease is associated with reduced plasma protein C activity and normal levels of protein C antigen. Immunoelectrophoretic analysis of protein C antigen gave an abnormal pattern in all affected members, suggesting that the disorder is related to the presence of a st...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.2830290410

    authors: Conlan MG,Bridges A,Williams E,Marlar R

    更新日期:1988-12-01 00:00:00

  • Predicting venous thromboembolism in multiple myeloma: development and validation of the IMPEDE VTE score.

    abstract::Venous thromboembolism (VTE) is a common cause of morbidity and mortality among patients with multiple myeloma (MM). The International Myeloma Working Group (IMWG) developed guidelines recommending primary thromboprophylaxis, in those identified at high-risk of VTE by the presence of risk factors. The National Compreh...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/ajh.25603

    authors: Sanfilippo KM,Luo S,Wang TF,Fiala M,Schoen M,Wildes TM,Mikhael J,Kuderer NM,Calverley DC,Keller J,Thomas T,Carson KR,Gage BF

    更新日期:2019-11-01 00:00:00

  • Drug-associated agranulocytosis: 20 years of reporting in The Netherlands (1974-1994).

    abstract::In this descriptive study, all 425 reports were included concerning drug-associated agranulocytosis as registered between 1974 and 1994 in the files of the Drug Safety Unit of the Dutch Inspectorate for Health Care. All reports were analysed as to the probability of agranulocytosis or neutropenia according to previous...

    journal_title:American journal of hematology

    pub_type: 杂志文章

    doi:10.1002/(sici)1096-8652(199803)57:3<206::aid-ajh4>

    authors: van der Klauw MM,Wilson JH,Stricker BH

    更新日期:1998-03-01 00:00:00