Challenges of multiple mutations in individual patients with haemophilia.

Abstract:

:Multiple mutations in the same gene within a haemophilia family are being increasingly reported and raise many issues with regard to the specificity of the mutations in causing the disease. In a proportion of families with multiple mutations, discordant phenotypic severity is often observed among the affected members. Understanding whether these mutations influence additively or non-additively the structure, stability and function of the protein will help in a better clinical evaluation of these patients. In case of haemophilia A, out of 2740 entries, ten are double mutants. Among the 2891 patient entries in the Haemophilia B mutation database, there are 34 double mutants and one triple mutant. The major challenge in patients with multiple mutations lies in genetic diagnosis and counselling especially in developing countries wherein the entire gene is not being sequenced and the screening is stopped as soon as the mutation is identified. As of now, the presence of multiple mutations stresses the importance of additional DNA testing in patients with known mutations who have unusual phenotypes or additional, unexplained clinical problems, until more cost-effective techniques for screening the entire gene are identified.

journal_name

Eur J Haematol

authors

Shetty S,Bhave M,Ghosh K

doi

10.1111/j.1600-0609.2010.01564.x

subject

Has Abstract

pub_date

2011-03-01 00:00:00

pages

185-90

issue

3

eissn

0902-4441

issn

1600-0609

journal_volume

86

pub_type

杂志文章,评审
  • Synchronous FIP1L1-PDGFRA-positive chronic eosinophilic leukemia and T-cell lymphoblastic lymphoma: a bilineal clonal malignancy.

    abstract::Several reports of successful empirical treatment of idiopathic hypereosinophilic syndrome with imatinib led to the recent identification of the FIP1L1-PDGFRA fusion gene rearrangement, which characterizes a distinctive group of chronic eosinophilic leukemias. This fusion gene can be detected in eosinophils, neutrophi...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2007.00973.x

    authors: Capovilla M,Cayuela JM,Bilhou-Nabera C,Gardin C,Letestu R,Baran-Marzak F,Fenaux P,Martin A

    更新日期:2008-01-01 00:00:00

  • Effect of varicella zoster virus infection on bone marrow function.

    abstract:BACKGROUND:Most viral infections are known to exert adverse effects on bone marrow function. However, certain viruses have recently been found to be therapeutically beneficial in the treatment of some malignant disorders. METHODS AND MATERIALS:A retrospective study was conducted at the Armed Forces Hospital, Riyadh, S...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2005.00504.x

    authors: Al-Anazi KA,Al-Jasser AM,Evans DA

    更新日期:2005-09-01 00:00:00

  • BCL3 rearrangement, amplification and expression in diffuse large B-cell lymphoma.

    abstract:AIMS:Aim of the study is to investigate diffuse large B-cell lymphoma (DLBCL) for the presence of BCL3 gene rearrangement and protein expression and to correlate these with immunophenotypic subsets of DLBCL. We aimed to investigate the pathogenetic implication of BCL3 in DLBCL. METHODS AND RESULTS:Tissue microarray se...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2011.01684.x

    authors: Ibrahim HA,Amen F,Reid AG,Naresh KN

    更新日期:2011-12-01 00:00:00

  • VBAMDex chemotherapy in advanced multiple myeloma.

    abstract::In a phase II study 28 patients with advanced multiple myeloma were treated with a five drug regimen consisting of vincristine, BCNU, adriamycin, melphalan and dexamethasone. 11 out of 13 patients without prior chemotherapy showed significant remissions (greater than 25% tumor cells mass reduction), 7 of them had more...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1988.tb00831.x

    authors: Peest D,Schmoll HJ,Schedel I,Glück S,Schumacher K,Deicher H

    更新日期:1988-03-01 00:00:00

  • CD68 and CD163 as prognostic factors for Korean patients with Hodgkin lymphoma.

    abstract:BACKGROUND:Limited progress had been made in prognostic stratification of patients with Hodgkin lymphoma (HL) until recent studies suggested that the number of CD68-expressing macrophages is prognostic in classical HL. However, its significance in Asian patients with HL has not been explored yet perhaps because of its ...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2011.01731.x

    authors: Yoon DH,Koh YW,Kang HJ,Kim S,Park CS,Lee SW,Suh C,Huh J

    更新日期:2012-04-01 00:00:00

  • Prognostic factors in idiopathic myelofibrosis: a simple scoring system with prognostic significance.

    abstract::In a prognostic univariate analysis of a series of 80 patients with idiopathic myelofibrosis the Hb-concentration, the platelet count and osteomyelosclerosis emerged as factors with prognostic significance. A Hb-concentration less than 10 g/dl was associated with a significantly shorter survival than a Hb-concentratio...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1990.tb00372.x

    authors: Hasselbalch H,Jensen BA

    更新日期:1990-03-01 00:00:00

  • Long-term haemopoietic injury in mice after repeated irradiation: precursor-cell cycling and its regulation.

    abstract::The cycling rate of haemopoietic stem cells (day 9 CFU-S) and granulocyte-macrophage colony forming cells (GM-CFC) in mouse femora was, in response to reduced numbers, elevated at all times of sampling between 3 weeks and 10 months after 4 repeated doses of 4.5 Gy X-rays (3 wk between doses). The level of a stimulator...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1988.tb01193.x

    authors: Tejero C,Lord BI,Mason TM,Hendry JH

    更新日期:1988-09-01 00:00:00

  • Dominant-negative mutations of the Wilms' tumour predisposing gene (WT1) are infrequent in CML blast crisis and de novo acute leukaemia.

    abstract::To determine if mutations of the Wilms' tumor predisposing gene (WT1) are associated with haematological malignancies, we have investigated 65 cases of acute leukaemia, including 39 patients in blast crisis of chronic myeloid leukaemia (CML), by amplification of WT1 exons 7, 8 and 9 followed by single-strand conformat...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1997.tb01681.x

    authors: Carapeti M,Goldman JM,Cross NC

    更新日期:1997-05-01 00:00:00

  • FCGR3A-158V/F polymorphism may correlate with the levels of immunoglobulin in patients with non-Hodgkin's lymphoma after rituximab treatment as an adjuvant to autologous stem cell transplantation.

    abstract:OBJECTIVES:Recent studies have indicated that patients who receive stem cell transplantation (SCT) and rituximab demonstrate an increased risk of developing hypogammaglobulinemia. Such hypogammaglobulinemia has been found to be due to delayed recovery of memory B cells with an abnormal cell marker expression and impair...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2008.01174.x

    authors: Nishio M,Endo T,Fujimoto K,Yamamoto S,Obara M,Yamaguchi K,Takeda Y,Goto H,Kasahara I,Sato N,Koike T

    更新日期:2009-02-01 00:00:00

  • Direct-acting oral anticoagulants: pharmacology, indications, management, and future perspectives.

    abstract::In recent years, several direct-acting oral anticoagulants (DOAC) have become available for use in Europe and other regions in indications related to prophylaxis and treatment of venous and arterial thromboembolism. They include the oral direct thrombin inhibitor dabigatran etexilate (Pradaxa, Boehringer Ingelheim) an...

    journal_title:European journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/ejh.12610

    authors: Gómez-Outes A,Suárez-Gea ML,Lecumberri R,Terleira-Fernández AI,Vargas-Castrillón E

    更新日期:2015-11-01 00:00:00

  • Regulatory T-cell phenotype in association with large cell transformation of mycosis fungoides.

    abstract:INTRODUCTION:Tumor cells of primary cutaneous T-cell lymphomas are able to adopt a regulatory T-cell phenotype in vitro. The significance of this finding in vivo is matter of debate. METHODS:We stained five cases with transformed mycosis fungoides (MF) with an antibody against FOXP3, which is a sensitive and specific ...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2006.00809.x

    authors: Hallermann C,Niermann C,Schulze HJ

    更新日期:2007-03-01 00:00:00

  • Acute myeloid leukemia in the pregnant patient.

    abstract::Although acute myeloid leukemia (AML) mostly occurs in older patients, it could be seen in women of childbearing age. It is therefore not surprising that in some patients the management of AML will be complicated by a coexistent pregnancy. However, the association of leukemia and pregnancy is uncommon. Its incidence i...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/ejh.12535

    authors: Thomas X

    更新日期:2015-02-16 00:00:00

  • Point mutation in the band 4.2 gene associated with autosomal recessively inherited erythrocyte band 4.2 deficiency.

    abstract::A patient who represented acute hemolytic crisis was studied. Analysis of the erythrocyte membrane proteins by SDS-PAGE revealed a deficiency of band 4.2. In the family, the sister of the patient who had been clinically normal was also shown to be deficient in band 4.2. Binding studies showed that the propositus' memb...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1993.tb00164.x

    authors: Iwamoto S,Kajii E,Omi T,Kamesaki T,Akifuji Y,Ikemoto S

    更新日期:1993-05-01 00:00:00

  • Pirarubicin nuclear uptake does not correlate with its induced cell death effect during reversal of multidrug resistance by quinine in human K562 and CEM leukemic cells.

    abstract::A number of small and lipophilic cations are able to reverse in vitro the resistance to anthracyclines and other natural products through their interaction with P-glycoprotein or P-gp. However, some modulators do not interact with P-gp. We have demonstrated in a previous a work, using confocal laser microspectrofluoro...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1998.tb01709.x

    authors: Morjani H,Belhoussine R,Lahlil R,Manfait M

    更新日期:1998-10-01 00:00:00

  • Circulating extracellular vesicle-associated CD163 and CD206 in multiple myeloma.

    abstract:OBJECTIVES:Extracellular vesicles (EVs) are important for intercellular signalling in cancer. Tumour-associated macrophages, expressing the haemoglobin-haptoglobin and mannose receptors CD163 and CD206, are crucial for cancer progression. We recently identified CD163 on EVs in the circulation as a fraction of total sol...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/ejh.13371

    authors: Kvorning SL,Nielsen MC,Andersen NF,Hokland M,Andersen MN,Møller HJ

    更新日期:2020-05-01 00:00:00

  • Ligation of CD200R by CD200 is not required for normal murine myelopoiesis.

    abstract::CD200R is an inhibitory receptor involved in the regulation of myeloid cells. It recruits Dok-1 and Dok-2, which are potent inhibitors of the Ras signalling pathway used by colony-stimulating factor (CSF) receptors. Dok-1/Dok-2 double knockout (DKO) mice develop leukaemia at 10-12 months of age. We investigated whethe...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2007.00920.x

    authors: Rijkers ES,de Ruiter T,Buitenhuis M,Veninga H,Hoek RM,Meyaard L

    更新日期:2007-11-01 00:00:00

  • Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders.

    abstract::MYH9 disorders are autosomal dominant macrothrombocytopenias with leukocyte inclusion bodies. Single point mutations in the protein-coding sequence of the MYH9 gene are the most common cause. So far no large gene deletion/insertion and splicing defects have been reported. Conventional DNA sequencing of each MYH9-codin...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2008.01046.x

    authors: Kunishima S,Matsushita T,Hamaguchi M,Saito H

    更新日期:2008-06-01 00:00:00

  • Heterogeneity of TdT+, HLA-DR+ acute leukaemia: immunological, immunocytochemical and clinical evidence of lymphoid and myeloid origin.

    abstract::15 cases of acute leukemia (AL) displaying a TdT+, HLA-DR+ phenotype were studied; surface immunoglobulins, T cell markers and the common acute lymphoblastic leukaemia (c-ALL) antigen were negative, as were peroxidase and non-specific esterase cytochemical reactions. All cases were extensively investigated by conventi...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1987.tb01147.x

    authors: Basso G,Putti MC,Catoretti G,Consolini R,Galdiolo D,Guglielmi C,Messina C,Milanesi C,Testi AM,Xillo MZ

    更新日期:1987-02-01 00:00:00

  • Altered erythropoiesis and iron metabolism in carriers of thalassemia.

    abstract::The thalassemia syndromes (α- and β-thalassemia) are the most common and frequent disorders associated with ineffective erythropoiesis. Imbalance of α- or β-globin chain production results in impaired red blood cell synthesis, anemia, and more erythroid progenitors in the blood stream. While patients affected by these...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/ejh.12464

    authors: Guimarães JS,Cominal JG,Silva-Pinto AC,Olbina G,Ginzburg YZ,Nandi V,Westerman M,Rivella S,de Souza AM

    更新日期:2015-06-01 00:00:00

  • c-Met signaling promotes IL-6-induced myeloma cell proliferation.

    abstract:OBJECTIVES:Hepatocyte growth factor (HGF) is a constituent of the myeloma microenvironment and is elevated in sera from myeloma patients compared to healthy individuals. Increased levels of serum HGF predict a poor prognosis. It has previously been shown by us and others HGF can act as a growth factor to myeloma cells ...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2009.01212.x

    authors: Hov H,Tian E,Holien T,Holt RU,Våtsveen TK,Fagerli UM,Waage A,Børset M,Sundan A

    更新日期:2009-04-01 00:00:00

  • Immunophenotype of hairy-cell leukemia.

    abstract::15 cases of HCL were studied with a panel of monoclonal antibodies against different leukocyte antigens. A B-cell phenotype different from that of B-CLL was observed (CD10-, CD19+, CD20+, CD21-, CD22+, CD37+, CD38-, FMC7+, LN1+, PCA-1+, BLy7+ and CD5-). As expected, CD11c and CD25 were positive and, in addition, a My7...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1990.tb00447.x

    authors: Hassan IB,Hagberg H,Sundström C

    更新日期:1990-09-01 00:00:00

  • Cost-effectiveness analysis of interventions for prevention of invasive aspergillosis among leukemia patients during hospital construction activities.

    abstract:OBJECTIVES:Invasive Aspergillosis (IA) is a serious problem among hematological patients and it is associated with high mortality. This situation can worsen at times of hospital construction, however there are several preventive measures available. This work aims to define the cost-effectiveness of some of these interv...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/ejh.12991

    authors: Combariza JF,Toro LF,Orozco JJ,Arango M

    更新日期:2018-02-01 00:00:00

  • Decrease in arterial oxygen partial pressure within the first 24 h of rhGM-CSF administration in AML patients.

    abstract::GM-CSF may induce pulmonary complications, such as dyspnea with temporary decreases in oxygen saturation described as first dose effect for higher dosages of intravenous rhGM-CSF. This study investigated possible pulmonary disturbances in adult de novo AML patients receiving yeast rhGM-CSF 24 h prior to chemotherapy u...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1997.tb01689.x

    authors: Zühlsdorf M,von Eiff M,Thomas M,Büchner T

    更新日期:1997-11-01 00:00:00

  • Single-agent thalidomide induces response in T-cell lymphoma.

    abstract::T-cell lymphoma is an aggressive lymphoma that cannot be cured despite aggressive therapy, including autologous stem cell transplantation. Thalidomide is an immunomodulatory drug with numerous properties that has proven effective in relapsed multiple myeloma and, to a lesser extent, in other hematologic diseases. We r...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2004.00362.x

    authors: Damaj G,Bouabdallah R,Vey N,Bilger K,Mohty M,Gastaut JA

    更新日期:2005-02-01 00:00:00

  • Intensive remission induction therapy for chronic myeloid leukemia in blast phase with a goal of post-remission bone marrow transplant--a pilot study.

    abstract::An intensive protocol utilizing mitoxantrone, high-dose cytarabine, vincristine, etoposide and methylprednisolone as induction therapy for chronic myeloid leukemia in blast transformation is described. Fourteen patients were treated, with a remission/second chronic phase achieved in 64%. None of the 3 patients older t...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1996.tb00488.x

    authors: Lipton JH,Messner HA,Curtis JE,Atkins HL,Minden MD

    更新日期:1996-07-01 00:00:00

  • Porcine platelets in vitro and in vivo studies: relevance to human thrombosis research.

    abstract::This review summarizes present knowledge on porcine platelets in vitro and recent studies on in vivo activation of platelets in the pig. There are certain differences compared to human platelets: Platelet aggregation and secretion cannot be achieved by epinephrine, and the arachidonate pathway seems poorly developed i...

    journal_title:European journal of haematology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1600-0609.1992.tb00043.x

    authors: Søfteland E,Framstad T,Thorsen T,Holmsen H

    更新日期:1992-10-01 00:00:00

  • Hypocholesterolemia in adult patients with thalassemia: a link with the severity of genotype in thalassemia intermedia patients.

    abstract:OBJECTIVES:Hypocholesterolemia has been previously described in patients affected by thalassemia. In this study we retrospectively evaluated the cholesterol level in two groups of patients affected by either thalassemia major (TM) or thalassemia intermedia (TI), with the aim of establishing factors correlated to hypoch...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2008.01195.x

    authors: Ricchi P,Ammirabile M,Spasiano A,Costantini S,Di Matola T,Cinque P,Pagano L,Prossomariti L

    更新日期:2009-03-01 00:00:00

  • Impact of body-surface area on patients' outcome in younger adults with acute myeloid leukemia.

    abstract:OBJECTIVES:Anthracyclines and cytarabine are cornerstones for intensive chemotherapy in acute myeloid leukemia (AML). The goals of this study were to comprehensively assess deviations from theoretical doses and the impact of body-surface area (BSA) on patients' characteristics, physicians' strategy, dose adjustment, an...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/ejh.12850

    authors: Cahu X,Carré M,Recher C,Pigneux A,Hunault-Berger M,Vey N,Chevallier P,Delaunay J,Gyan E,Lioure B,Bonmati C,Himberlin C,Hicheri Y,Guillerm G,Didier B,Larosa F,Ojeda-Uribe M,Bernard M,Bene MC,Ifrah N,Cahn JY

    更新日期:2017-05-01 00:00:00

  • The changing profile of idiopathic myelofibrosis: a comparison of the presenting features of patients diagnosed in two different decades.

    abstract::In an attempt to ascertain whether the presenting features of idiopathic myelofibrosis (IM) have changed in recent years, 2 groups of patients diagnosed with IM in a single institution in different time periods were compared. The first group included 53 patients diagnosed from 1975 to 1986, and the second included 56 ...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.1998.tb01005.x

    authors: Cervantes F,Pereira A,Esteve J,Cobo F,Rozman C,Montserrat E

    更新日期:1998-02-01 00:00:00

  • Bone scan images reveal increased osteoblastic function after bortezomib treatment in patients with multiple myeloma.

    abstract::Osteolytic lesions with activated osteoclast (OC) and suppressed osteoblast (OB) activity are characteristics of myeloma bone lesion. Recently, it has been shown that bortezomib treatment enhances OB function. To evaluate the effect of bortezomib on myeloma bone lesions, we performed bone scans, where increased uptake...

    journal_title:European journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1600-0609.2010.01523.x

    authors: Lee SE,Min CK,Yahng SA,Cho BS,Eom KS,Kim YJ,Kim HJ,Lee S,Cho SG,Kim DW,Lee JW,Min WS,Park CW

    更新日期:2011-01-01 00:00:00