Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events.

Abstract:

BACKGROUND AND OBJECTIVES:Recombinations are common between the two homologous alpha-globin genes. We report on the identification and characterization of two patchwork alpha-globin genes. DESIGN AND METHODS:Multiplex polymerase chain reaction assays were performed to rule out the presence of alpha-globin gene deletions and triplications. The HBA1 (alpha1-globin) and HBA2 (alpha2-globin) genes were individually amplified and sequenced. RESULTS:Two variants of the HBA1 and HBA2 genes were identified. One variant allele, alpha121, consists primarily of the HBA1 gene sequence except for a small segment of IVSII in which an octanucleotide segment has been replaced by an HBA2 -specific nucleotide. Conversely, the alpha212 variant consists primarily of the HBA2 gene sequence except for a segment of IVSII in which HBA2 -specific nucleotides at two sites have been replaced by HBA1-specific sequences. Both variant alleles are found in individuals of different ethnicity, geographical origin, and haplotype backgrounds. The simplest model for the origins of these patchwork alleles is a single crossover between a normal allele and an existing recombinant allele such as the -alpha(3.7) single gene deletion or the alphaalphaalpha(anti3.7) triplicated allele, but we cannot exclude a reciprocal double crossover or a non-reciprocal gene conversion between misaligned HBA1 and HBA2 genes. INTERPRETATION AND CONCLUSIONS:The a-globin patchwork alleles have arisen independently on several occasions, most likely through a single crossover between a normal and a recombinant allele. Further studies are necessary to evaluate the possible effect of these changes on alpha-globin gene expression.

journal_name

Haematologica

journal_title

Haematologica

authors

Law HY,Luo HY,Wang W,Ho JF,Najmabadi H,Ng IS,Steinberg MH,Chui DH,Chong SS

keywords:

subject

Has Abstract

pub_date

2006-03-01 00:00:00

pages

297-302

issue

3

eissn

0390-6078

issn

1592-8721

pii

039060789221

journal_volume

91

pub_type

杂志文章
  • The outcome of peripheral T-cell lymphoma patients failing first-line therapy: a report from the prospective, International T-Cell Project.

    abstract::This analysis explored factors influencing survival of patients with primary refractory and relapsed peripheral T-cell lymphomas enrolled in the prospective International T-cell Project. We analyzed data from 1020 patients with newly diagnosed disease, enrolled between September 2006 and December 2015. Out of 937 pati...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2017.186577

    authors: Bellei M,Foss FM,Shustov AR,Horwitz SM,Marcheselli L,Kim WS,Cabrera ME,Dlouhy I,Nagler A,Advani RH,Pesce EA,Ko YH,Martinez V,Montoto S,Chiattone C,Moskowitz A,Spina M,Biasoli I,Manni M,Federico M,International T-c

    更新日期:2018-07-01 00:00:00

  • CAV chemotherapy (CCNU, melphalan, etoposide) as salvage treatment for relapsing or resistant Hodgkin's disease.

    abstract::Twenty-five adult patients with resistant or early relapsing Hodgkin's disease have been treated with CAV combination chemotherapy (CCNU, melphalan and etoposide). All patients had previously received both MOPP and ABVD regimens (23 patients as primary therapy and two as first salvage). High-energy radiotherapy had be...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Brusamolino E,Castelli G,Pagnucco G,Orlandi E,Malagó D,Lazzarino M,Bernasconi C

    更新日期:1990-07-01 00:00:00

  • Immunoglobulin heavy chain and T-cell receptor beta chain gene rearrangements in acute non lymphoid leukemia.

    abstract::The occurrence of immunoglobulin heavy chain (IgH) and/or T-cell receptor (TcR) gene rearrangements has been reported in some cases of acute non lymphoid leukemia (ANLL), and variously interpreted as reflecting "aberrant gene expression" or "lineage promiscuity" of the leukemic cell. In an attempt to verify the incide...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Leone R,Lo Coco F,De Rossi G,Diverio D,Frontani M,Spadea A,Testi AM,Cordone I,Mandelli F

    更新日期:1990-03-01 00:00:00

  • Different suppression of Ph1 positive hemopoiesis induced by intensive chemotherapy in lymphoid and myeloid blast crisis of CML.

    abstract:BACKGROUND:The suppression of Ph1-positive hemopoiesis is a major goal in the treatment of CML; in this context the CML patients in blast crisis obtaining a complete clinical remission represent a useful model to investigate the behavior of the Ph1-positive and negative clones during bone marrow repopulation after abla...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Guerrasio A,Martinelli G,Ambrosetti A,Falda M,Paolino F,Rege-Cambrin G,Rosso C,Pignatti PF,Gasparini P,Perona G

    更新日期:1991-03-01 00:00:00

  • Adding growth factors or interleukin-3 to erythropoietin has limited effects on anemia of transfusion-dependent patients with myelodysplastic syndromes unresponsive to erythropoietin alone.

    abstract:BACKGROUND AND OBJECTIVES:Recombinant erythropoietin (r-EPO) induces erythroid responses in patients affected by myelodysplastic syndromes (MDS). However, the response rate declines to 10-15% in MDS with substantial transfusion needs. Both in vitro and in vivo studies have suggested that the addition of growth factors ...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Musto P,Sanpaolo G,D'Arena G,Scalzulli PR,Matera R,Falcone A,Bodenizza C,Perla G,Carotenuto M

    更新日期:2001-01-01 00:00:00

  • Submicroscopic deletions at 7q region are associated with recurrent chromosome abnormalities in acute leukemia.

    abstract:BACKGROUND AND OBJECTIVES:Loss of heterozygosity (LOH) on the long arm of chromosome 7 (7q) has been frequently reported in several types of human cancer including hematologic malignancies. Moreover, monosomy of chromosome 7 and 7q deletions have been associated in acute myeloid leukemia (AML) with aggressive disease a...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Basiricò R,Pirrotta R,Fabbiano F,Mirto S,Cascio L,Pagano M,Cammarata G,Magrin S,Santoro A

    更新日期:2003-04-01 00:00:00

  • The natural history of trilinear myelodysplastic syndrome and erythroleukemia.

    abstract::A case of Di Guglielmo's syndrome passed through the three stages of chronic erythromyelosis, erythroleukemia and acute myeloid leukemia (AML). According to the FAB classification the subsequent stages of this syndrome were refractory anemia (RA), RA with excess of blasts (RAEB), AML-M6, AML-M2 and undifferentiated AM...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Michiels JJ,van der Meulen J,Brederoo P

    更新日期:1997-07-01 00:00:00

  • Efficacy of pipobroman in the treatment of polycythemia vera: long-term results in 163 patients.

    abstract:BACKGROUND AND OBJECTIVES:Polycythemia vera (PV) is a myeloproliferative disorder, characterized by the expansion of the red cell mass. Our purpose was to evaluate the efficacy of pipobroman (PB) in the long-term control of PV and to assess early and late events. DESIGN AND METHODS:From June 1975 to December 1997, 163...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Passamonti F,Brusamolino E,Lazzarino M,Baraté C,Klersy C,Orlandi E,Canevari A,Castelli G,Merante S,Bernasconi C

    更新日期:2000-10-01 00:00:00

  • The efficacy and toxicity of bendamustine in recurrent multiple myeloma after high-dose chemotherapy.

    abstract::We performed a dose-escalation study of bendamustine in 31 patients with multiple myeloma that had progressed after high-dose chemotherapy. Bendamustine 100 mg/m2 on days 1 and 2 per cycle was found to be the maximal tolerated dose. The overall response rate was 55% with a median progression-free survival of 26 (0-61)...

    journal_title:Haematologica

    pub_type: 信件

    doi:

    authors: Knop S,Straka C,Haen M,Schwedes R,Hebart H,Einsele H

    更新日期:2005-09-01 00:00:00

  • Cytokines in combination to treat radiation-induced myelosuppresssion: evaluation of SCF + glycosylated EPO + pegylated G-CSF as an emergency treatment in highly irradiated monkeys.

    abstract::Multicytokine therapy may be useful to counteract radiation-induced myelosuppression. We assessed the stem cell factor + glycosylated erythropoietin + pegylated granulocyte colony-stimulating factor combination (SEG) as an emergency treatment. SEG in highly irradiated monkeys efficacy appeared to be restricted to gran...

    journal_title:Haematologica

    pub_type: 信件

    doi:10.3324/haematol.12183

    authors: Drouet M,Delaunay C,Grenier N,Garrigou P,Mayol JF,Hérodin F

    更新日期:2008-03-01 00:00:00

  • Activity of everolimus (RAD001) in relapsed and/or refractory multiple myeloma: a phase I study.

    abstract::The mammalian target of rapamycin plays an important role in multiple myeloma. The allosteric mammalian target of rapamycin inhibitor everolimus has long been approved for immunosuppression and has shown activity in certain cancers. This investigator-initiated phase I trial explored the use of everolimus in relapsed a...

    journal_title:Haematologica

    pub_type: 杂志文章,多中心研究

    doi:10.3324/haematol.2014.116269

    authors: Günther A,Baumann P,Burger R,Kellner C,Klapper W,Schmidmaier R,Gramatzki M

    更新日期:2015-04-01 00:00:00

  • Anticoagulation in the antiphospholipid syndrome.

    abstract::Our objectives were to evaluate thrombotic complications in patients with lupus anticoagulant fulfilling Sapporo criteria, anticoagulated with an intended INR 2.0-3.0 due to venous and arterial thrombosis. In our series standard anticoagulation was safe and efficacious in preventing recurrences in patients with system...

    journal_title:Haematologica

    pub_type: 信件

    doi:

    authors: Casais P,Alberto MF,Gennari LC,Grosso SH,Meschengieser SS,Lazzari MA

    更新日期:2004-04-01 00:00:00

  • In vivo generation of decidual natural killer cells from resident hematopoietic progenitors.

    abstract::Decidual natural killer cells accumulate at the fetal-maternal interface and play a key role in a successful pregnancy. However, their origin is still unknown. Do they derive from peripheral natural killer cells recruited in decidua or do they represent a distinct population that originates in situ? Here, we identifie...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2013.091421

    authors: Chiossone L,Vacca P,Orecchia P,Croxatto D,Damonte P,Astigiano S,Barbieri O,Bottino C,Moretta L,Mingari MC

    更新日期:2014-03-01 00:00:00

  • Induction of erythroferrone in healthy humans by micro-dose recombinant erythropoietin or high-altitude exposure.

    abstract::The erythropoietin (Epo)-erythroferrone (ERFE)-hepcidin axis coordinates erythropoiesis and iron homeostasis. While mouse studies have established that Epo-induced ERFE production represses hepcidin synthesis by inhibiting hepatic BMP/SMAD signaling, evidence for the role of ERFE in humans is limited. To investigate t...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2019.233874

    authors: Robach P,Gammella E,Recalcati S,Girelli D,Castagna A,Roustit M,Lundby C,Lundby AK,Bouzat P,Vergès S,Séchaud G,Banco P,Uhr M,Cornu C,Sallet P,Cairo G

    更新日期:2021-02-01 00:00:00

  • Efficient generation and characterization of tumor cell subclones with different adhesion pathways involved in cell lysis.

    abstract:BACKGROUND:Specific tumor cell recognition is required for optimal tumor directed therapy. Lymphokine activated killer (LAK) cells are able to recognize tumor targets specifically because LAK cells can distinguish between normal and tumor cells. This study was aimed at analyzing receptor molecules on tumor cells and th...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Lefterova P,Negrin R,Neubauer A,Huhn D,Blume K,Schmidt-Wolf I

    更新日期:1993-11-01 00:00:00

  • MOHITO, a novel mouse cytokine-dependent T-cell line, enables studies of oncogenic signaling in the T-cell context.

    abstract::The mouse pro-B cell line Ba/F3 has gained major interest as a model system to investigate oncogenic tyrosine kinases and to determine the efficacy of kinase inhibitors. While Ba/F3 cells are suitable to study oncogenic kinases derived from various cell types, the signaling networks in Ba/F3 cells are B-cell specific....

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2010.035931

    authors: Kleppe M,Mentens N,Tousseyn T,Wlodarska I,Cools J

    更新日期:2011-05-01 00:00:00

  • The verdict is not in yet. Analysis of the randomized trials of high-dose chemotherapy for breast cancer.

    abstract:BACKGROUND:The relative efficacy of high-dose chemotherapy (HDC) compared to standard treatment for high-risk primary (HRPBC) or metastatic breast cancer (MBC) constitutes an area of intense controversy among the medical oncology community. A number of randomized trials have been conducted to address this issue. In mos...

    journal_title:Haematologica

    pub_type: 杂志文章,评审

    doi:

    authors: Nieto Y

    更新日期:2003-02-01 00:00:00

  • Combined modality therapy in advanced Hodgkin's disease: a report on 218 patients with a median follow-up of eight years.

    abstract:BACKGROUND AND OBJECTIVE:This study was designed to evaluate the efficacy and toxicity of monthly alternating ABVD/MOPP compared to ABVD/OPP regimens in patients with advanced stage Hodgkin's disease (HD), as well as in early stage patients with systemic symptoms and/or bulky disease. DESIGN AND METHODS:218 patients w...

    journal_title:Haematologica

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Anselmo AP,Cavalieri E,Enrici RM,Donato V,Pescarmona E,Biagini C,Mandelli F

    更新日期:1998-07-01 00:00:00

  • Protein arginine methyltransferase 6 controls erythroid gene expression and differentiation of human CD34+ progenitor cells.

    abstract::Hematopoietic differentiation is driven by transcription factors, which orchestrate a finely tuned transcriptional network. At bipotential branching points lineage decisions are made, where key transcription factors initiate cell type-specific gene expression programs. These programs are stabilized by the epigenetic a...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2017.174516

    authors: Herkt SC,Kuvardina ON,Herglotz J,Schneider L,Meyer A,Pommerenke C,Salinas-Riester G,Seifried E,Bonig H,Lausen J

    更新日期:2018-01-01 00:00:00

  • The German Registry of immune tolerance treatment in hemophilia--1999 update.

    abstract::As of 1999, the German registry of immune tolerance treatment in hemophilia has received reports on 146 patients who have undergone this therapy from 25 hemophilia centers. In 16 of the reported patients treatment is ongoing. Therapy has been completed in 126 patients of all groups with hemophilia A; most of them are ...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Lenk H,ITT Study Group.

    更新日期:2000-10-01 00:00:00

  • Abnormal platelet count is an independent predictor of mortality in the elderly and is influenced by ethnicity.

    abstract::Even though alterations in platelet counts are presumed to be detrimental, their impact on the survival of patients has not been studied in large cohorts. The prevalence of thrombocytopenia and thrombocytosis was examined in a large inner city outpatient population of 36,262 individuals aged ≥65 years old. A significa...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2013.101949

    authors: Msaouel P,Lam AP,Gundabolu K,Chrysofakis G,Yu Y,Mantzaris I,Friedman E,Verma A

    更新日期:2014-05-01 00:00:00

  • HTLV-I positive adult T-cell leukaemia-lymphoma: report of a typical case from Italy.

    abstract::A case of acute adult T-cell leukemia-lymphoma (ATLL) was observed in northeast Italy, presenting with fever, lymphadenomegaly, splenomegaly, hypercalcemia and renal failure. Leukaemic cells were morphologically typical, expressed a T-cell CD4+ phenotype, did not display any helper functions, and grew in vitro under s...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Fanin R,Minutillo S,D'Agaro P,Raspadori D,Tassinari A,Tazzari P,Testoni N,Damiani D,Gallizia C,Michieli M

    更新日期:1990-07-01 00:00:00

  • European Myeloma Network recommendations on the evaluation and treatment of newly diagnosed patients with multiple myeloma.

    abstract::Multiple myeloma management has undergone profound changes in the past thanks to advances in our understanding of the disease biology and improvements in treatment and supportive care approaches. This article presents recommendations of the European Myeloma Network for newly diagnosed patients based on the GRADE syste...

    journal_title:Haematologica

    pub_type: 杂志文章,实务指引

    doi:10.3324/haematol.2013.099358

    authors: Engelhardt M,Terpos E,Kleber M,Gay F,Wäsch R,Morgan G,Cavo M,van de Donk N,Beilhack A,Bruno B,Johnsen HE,Hajek R,Driessen C,Ludwig H,Beksac M,Boccadoro M,Straka C,Brighen S,Gramatzki M,Larocca A,Lokhorst H,Magar

    更新日期:2014-02-01 00:00:00

  • Granulocytic invasion of the central nervous system after hematopoietic stem cell transplantation for systemic lupus erythematosus.

    abstract::We report on the likely mechanism of an exacerbation of neurological symptoms developed during immune reconstitution after autologous non-myeloablative hematopoietic stem cell transplantation in a 33-year-old man with systemic lupus erythematosus- associated recurrent transverse myelitis. Cerebrospinal fluid examinati...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Muraro PA,Nikolov NP,Butman JA,Abati A,Gea-Banacloche J,Gress R,Lipsky P,Illei G,Pavletic S

    更新日期:2006-06-01 00:00:00

  • CD34+ cell dose and CD33- subsets: collection and engraftment kinetics in autologous peripheral blood stem cells transplantation.

    abstract:BACKGROUND AND OBJECTIVE:We analyzed the factors that affected the number and quality of peripheral blood stem cells (PBSC) collected for transplant in order to establish a minimum threshold for rapid hematopoietic recovery. DESIGN AND METHODS:From January 1995 to November 1996, a consecutive series of 67 patients, wi...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Sampol Mayol A,Besalduch Vital J,Galmés Llodrá A,Bargay Lleonart J,Matamoros Flori N,Morey Sureda M,Novo García A,Mascaró Riera M,Gonzaléz Bach E,Martínez García P

    更新日期:1998-06-01 00:00:00

  • Kasabach-Merritt syndrome associated with giant liver hemangioma: the effect of combined therapy with danaparoid sodium and tranexamic acid.

    abstract::n patients with Kasabach-Merritt syndrome (KMS), local activation of coagulation commonly results in disseminated intravascular coagulation (DIC). Progress of DIC is associated with 30-40% mortality as a result of uncontrollable hemorrhage. A 39-year-old woman with an enlarging giant liver hemangioma was diagnosed as ...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: Ontachi Y,Asakura H,Omote M,Yoshida T,Matsui O,Nakao S

    更新日期:2005-11-01 00:00:00

  • Impact on survival through consolidation radiotherapy for diffuse large B-cell lymphoma: a comprehensive meta-analysis.

    abstract::Rituximab has improved response rates and overall survival in B-cell lymphoma (DLBCL). Radiotherapy is an effective treatment modality for lymphomas, but there is uncertainty on its use as consolidation after chemo-immunotherapy mainly in advanced stages. We evaluated its efficacy with a comprehensive meta-analysis an...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2020.249680

    authors: Berger MD,Trelle S,Büchi AE,Jegerlehner S,Ionescu C,Lamy de la Chapelle T,Novak U

    更新日期:2020-06-18 00:00:00

  • In vivo reduction of erythrocyte oxidant stress in a murine model of beta-thalassemia.

    abstract:BACKGROUND AND OBJECTIVES:Oxidant damage is an important contributor to the premature destruction of erythrocytes and anemia in thalassemias. To assess the extent of oxidant damage of circulating erythrocytes and the effects of antioxidant therapy on erythrocyte characteristics and anemia, we used a mouse model of huma...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:

    authors: de Franceschi L,Turrini F,Honczarenko M,Ayi K,Rivera A,Fleming MD,Law T,Mannu F,Kuypers FA,Bast A,van der Vijgh WJ,Brugnara C

    更新日期:2004-11-01 00:00:00

  • Impaired nodal shrinkage and apoptosis define the independent adverse outcome of NOTCH1 mutated patients under ibrutinib therapy in chronic lymphocytic leukaemia.

    abstract::The introduction of agents inhibiting the BCR-associated kinases such as ibrutinib has dramatically changed treatments algorithms of chronic lymphocytic leukaemia (CLL) as well as the role of different adverse prognosticators. We evaluated the efficacy of ibrutinib as single agent, in a real-life context, on 180 patie...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2020.251488

    authors: Del Poeta G,Biagi A,Laurenti L,Chiarenza A,Pozzo F,Innocenti I,Postorino M,Rossi FM,Del Principe MI,Bomben R,de Fabritiis P,Bruno A,Cantonetti M,Di Raimondo F,Zucchetto A,Gattei V

    更新日期:2020-07-30 00:00:00

  • Knockdown of Hnrnpa0, a del(5q) gene, alters myeloid cell fate in murine cells through regulation of AU-rich transcripts.

    abstract::The control of mRNA stability plays a central role in orchestrating gene-regulatory networks in hematopoietic cell growth, differentiation and tumorigenesis. HNRNPA0, which encodes an RNA-binding protein shown to regulate transcript stability via binding to the AU-rich elements of mRNAs, is located within the commonly...

    journal_title:Haematologica

    pub_type: 杂志文章

    doi:10.3324/haematol.2013.098657

    authors: Young DJ,Stoddart A,Nakitandwe J,Chen SC,Qian Z,Downing JR,Le Beau MM

    更新日期:2014-06-01 00:00:00