Homozygosity for dominant form of hereditary spherocytosis.

Abstract:

:A 6-month-old male infant with hereditary spherocytosis (HS) who was the first child of a cousin marriage is presented. The patient had splenomegaly and severe anaemia. Examination of the peripheral blood smear revealed spherocytes and the osmotic fragility of red blood cells was greatly increased. Physical examination of the parents revealed that both parents had mild anaemia, jaundice and splenomegaly. Their peripheral blood smears showed spherocytes and a few acanthocytes. Osmotic fragility of red blood cells of both parents were increased. Red cell membrane electrophoresis indicated a deficiency of ankyrin in the propositus; mild deficiency was also detected in both parents. Electrophoretic patterns of red cell membrane proteins suggested that the child was homozygous for the dominant form of HS associated with ankyrin deficiency, while both parents had the simple dominant form of the disease. Red blood cell transfusions were given to the patient starting at the age of 1 month until splenectomy was performed at the age of 1 year that resulted in complete haematological response. This observation indicates that homozygosity for dominant type of HS associated with ankyrin deficiency is life compatible and splenectomy may cure the anaemia.

journal_name

Br J Haematol

authors

Duru F,Gürgey A,Oztürk G,Yörükan S,Altay C

doi

10.1111/j.1365-2141.1992.tb06473.x

subject

Has Abstract

pub_date

1992-11-01 00:00:00

pages

596-600

issue

3

eissn

0007-1048

issn

1365-2141

journal_volume

82

pub_type

杂志文章
  • Interferon-alpha-induced morphological changes of megakaryocytes: a histomorphometrical study on bone marrow biopsies in chronic myeloproliferative disorders with excessive thrombocytosis.

    abstract::Interferon(rIFN)-alpha, a successful therapeutic agent in the control of thrombocytosis, has been shown to suppress human megakaryopoiesis. We investigated bone marrow biopsies from 12 patients with thrombocytosis due to chronic myeloproliferative disorders. Prior to treatment as well as during rIFN-alpha-2c therapy, ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1990.tb02531.x

    authors: Chott A,Gisslinger H,Thiele J,Fritz E,Linkesch W,Radaszkiewicz T,Ludwig H

    更新日期:1990-01-01 00:00:00

  • Incidence and natural history of pure red cell aplasia in major ABO-mismatched haematopoietic cell transplantation.

    abstract::Major ABO mismatching is not considered a contraindication to allogeneic haematopoietic stem cell transplantation (HSCT). Modern reduced-intensity conditioning and reduced-toxicity regimens cause much less myeloablation than conventional myeloablative regimens, such as cyclophosphamide with busulfan or total body irra...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.12210

    authors: Aung FM,Lichtiger B,Bassett R,Liu P,Alousi A,Bashier Q,Ciurea SO,de Lima MJ,Hosing C,Kebriaei P,Nieto Y,Oran B,Parmar S,Qazilbash M,Shah N,Khouri I,Champlin RE,Popat U

    更新日期:2013-03-01 00:00:00

  • Impaired immune responses to herpesviruses and microbial ligands in patients with MonoMAC.

    abstract::MonoMAC is a complex primary immunodeficiency caused by mutations in the myeloid transcription factor GATA2, characterized by multilineage cytopenia with malignant complications and severe infections, including mycobacteria and herpesviruses. We describe the clinical presentation, genetics and antiviral inflammatory r...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.15947

    authors: Mardahl M,Jørgensen SE,Schneider A,Raaschou-Jensen K,Holm M,Veirum J,Kristensen TK,Johansen IS,Christiansen M,Assing K,Mogensen TH

    更新日期:2019-08-01 00:00:00

  • Interaction of monocytes and T cells in the regulation of normal human megakaryocytopoiesis in vitro: role of IL-1 and IL-2.

    abstract::Autologous or allogeneic peripheral blood T cells can stimulate the human megakaryocyte progenitor cell (CFU-Meg)-derived colony formation in a dose-dependent fashion in agar cultures of nonadherent (NA), T cell-depleted (NT) bone marrow (BM) cells. Low concentrations of monocytes and T cells can collaborate in the st...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1990.tb07830.x

    authors: Hamaguchi H,Takano N,Saito K,Enokihara H,Furusawa S,Shishido H

    更新日期:1990-09-01 00:00:00

  • Unexpected high incidence of intracranial subdural haematoma during intensive chemotherapy for acute myeloid leukaemia with a monoblastic component.

    abstract::We report a high incidence of subacute, chronic and sometimes occult intracranial subdural haematoma (SDH) occurring during intensive chemotherapy for acute myeloid leukaemia (AML) with a monoblastic component. Between March 1990 and January 1993, 86 AML patients from our institution were randomized in the multicentri...

    journal_title:British journal of haematology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1111/j.1365-2141.1995.tb08358.x

    authors: Jourdan E,Dombret H,Glaisner S,Micléa JM,Castaigne S,Degos L

    更新日期:1995-03-01 00:00:00

  • von Willebrand factor-cleaving protease inhibitor in a patient with human immunodeficiency syndrome-associated thrombotic thrombocytopenic purpura.

    abstract::Antibodies that inhibit von Willebrand Factor (VWF)-cleaving protease activity occur in patients with acute thrombotic thrombocytopenic purpura (TTP) and often persist in the chronic phase. A deficiency of this protease is likely to be responsible for the generation of ultrahigh VWF multimers and influence the formati...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.0007-1048.2002.03349.x

    authors: Sahud MA,Claster S,Liu L,Ero M,Harris K,Furlan M

    更新日期:2002-03-01 00:00:00

  • Quality of life during and following sequential treatment of previously untreated patients with multiple myeloma: findings of the Medical Research Council Myeloma IX randomised study.

    abstract::In the Medical Research Council (MRC) Myeloma IX trial (ISRCTN684564111) patients were randomised to sodium clodronate or zoledronic acid and induction treatment: cyclophosphamide, vincristine, doxorubicin and dexamethasone (CVAD) or cyclophosphamide, thalidomide and dexamethasone (CTD) followed by autologous stem cel...

    journal_title:British journal of haematology

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/bjh.15459

    authors: Royle KL,Gregory WM,Cairns DA,Bell SE,Cook G,Owen RG,Drayson MT,Davies FE,Jackson GH,Morgan GJ,Child JA

    更新日期:2018-09-01 00:00:00

  • Differences of immunoglobulin secreting cells in bone marrow from those in circulation: relevance to their development.

    abstract::The surface markers of immunoglobulin secreting cells (ISC) in bone marrow and peripheral blood were analysed. Circulating ISC bear surface Ig and Ia-like antigens. However, these markers were not detectable on ISC in bone marrow. Fc and complement receptors were not present on circulating ISC. The areas of plaques co...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1985.tb07360.x

    authors: Gyotoku Y,Mori M,Nonaka Y,Nagata Y,Saito Y

    更新日期:1985-04-01 00:00:00

  • Induction of B-cell chronic lymphocytic leukaemia and hairy cell leukaemia like phenotypes by phorbol ester treatment of normal peripheral blood B-cells.

    abstract::To investigate the relationship between normal B-cells, B-cell chronic lymphocytic leukaemia (B-CLL) cells and hairy cell leukaemia (HCL) cells the three cell types were incubated with phorbol myristic acetate (PMA). The parameters studied were morphology, immunophenotype and tartrate resistant acid phosphatase (TRAP)...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1990.tb04349.x

    authors: Visser L,Poppema S

    更新日期:1990-07-01 00:00:00

  • RUNX1 gene mutation in primary myelodysplastic syndrome--the mutation can be detected early at diagnosis or acquired during disease progression and is associated with poor outcome.

    abstract::Mutations of Runt-related transcription factor 1 (RUNX1) have been detected in patients with myelodysplastic syndrome (MDS). However, the prognostic implication of RUNX1 mutations in primary MDS is limited. The stage of the disease at which the mutations are acquired and whether they persist during the disease course ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2007.06811.x

    authors: Chen CY,Lin LI,Tang JL,Ko BS,Tsay W,Chou WC,Yao M,Wu SJ,Tseng MH,Tien HF

    更新日期:2007-11-01 00:00:00

  • Acute leukaemia immunophenotyping in bone-marrow routine sections.

    abstract::Immunohistochemistry of acute leukaemias in bone-marrow paraffin sections is commonly thought to be useless because of the poor preservation of many lineage-related markers. The recent development of antibodies against fixative-resistant epitopes and of new antigen retrieval techniques, however, has expanded the possi...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:

    authors: Pileri SA,Ascani S,Milani M,Visani G,Piccioli M,Orcioni GF,Poggi S,Sabattini E,Santini D,Falini B

    更新日期:1999-05-01 00:00:00

  • The C677T MTHFR gene mutation is not predictive of risk for recurrent fetal loss.

    abstract::We have investigated the potency of the C677T mutation in the methylene tetrahydrofolate reductase (MTHFR) gene as a genetic risk factor in women with a history of early (12 weeks gestation) recurrent miscarriage (three or more consecutive pregnancy losses). Fifty-seven of the tota...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:

    authors: Holmes ZR,Regan L,Chilcott I,Cohen H

    更新日期:1999-04-01 00:00:00

  • Tucaresol increases oxygen affinity and reduces haemolysis in subjects with sickle cell anaemia.

    abstract::The primary pathophysiological event in sickling is the intracellular polymerization of deoxygenated haemoglobin S. Tucaresol (589C80;4[2-formyl-3-hydroxyphenoxymethyl] benzoic acid), a substituted benzaldehyde, was designed to interact with haemoglobin to increase oxygen affinity and has been shown to inhibit sicklin...

    journal_title:British journal of haematology

    pub_type: 临床试验,杂志文章

    doi:10.1046/j.1365-2141.1996.d01-1744.x

    authors: Arya R,Rolan PE,Wootton R,Posner J,Bellingham AJ

    更新日期:1996-06-01 00:00:00

  • A new specific chromosomal rearrangement, t(8;16) (p11;p13), in acute monocytic leukaemia.

    abstract::The translocation t(8;16) (p11;p13) was found as the sole deviation from the normal karyotype in three patients with acute monocytic leukaemia. The bone marrow morphology was strikingly similar in the two cases where smears were available for re-evaluation: the leukaemic cells showed signs of differentiation, and acti...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1987.tb06917.x

    authors: Heim S,Avanzi GC,Billström R,Kristoffersson U,Mandahl N,Bekassy AN,Garwicz S,Wiebe T,Pegoraro L,Falda M

    更新日期:1987-07-01 00:00:00

  • Myelodysplastic syndrome (MDS) with isolated trisomy 8: a type of MDS frequently associated with myeloproliferative features? A report by the Groupe Francophone des Myélodysplasies.

    abstract::Isolated trisomy 8 (+8) is a frequent cytogenetic abnormality in the myelodysplastic syndromes (MDS), but its characteristics are poorly reported. We performed a retrospective study of 138 MDS patients with isolated +8, classified or reclassified as MDS (excluding MDS/myeloproliferative neoplasm). Myeloproliferative (...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.15490

    authors: Drevon L,Marceau A,Maarek O,Cuccuini W,Clappier E,Eclache V,Cluzeau T,Richez V,Berkaoui I,Dimicoli-Salazar S,Bidet A,Vial JP,Park S,Vieira Dos Santos C,Kaphan E,Berthon C,Stamatoullas A,Delhommeau F,Abermil N,Braun

    更新日期:2018-09-01 00:00:00

  • Semiquantitative analysis of residual disease in patients treated for adult T-cell leukaemia/lymphoma (ATLL).

    abstract::Many adult T-cell leukaemia/lymphoma (ATLL) patients who respond to induction treatment, then relapse. Knowing the clonality pattern of residual tumourous clones during treatment could help understand disease evolution and aid therapeutic decisions. We developed a sensitive and semi-quantitative molecular analysis of ...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1999.01389.x

    authors: Leclercq I,Mortreux F,Morschhauser F,Duthilleul P,Desgranges C,Gessain A,Cavrois M,Vernant JP,Hermine O,Wattel E

    更新日期:1999-06-01 00:00:00

  • PI3K/AKT pathway activation in acute myeloid leukaemias is not associated with AKT1 pleckstrin homology domain mutation.

    abstract::Despite its' central role, the precise mechanisms of the phosphoinositide 3-kinase/Akt (PI3K)/Akt pathway activation in acute myeloid leukaemia (AML) have not been elucidated. Recently, a recurrent novel AKT1 pleckstrin homology domain (PHD) mutation leading to membrane translocation, constitutive AKT activation and l...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2007.06920.x

    authors: Tibes R,Kornblau SM,Qiu Y,Mousses SM,Robbins C,Moses T,Carpten JD

    更新日期:2008-02-01 00:00:00

  • Interleukin-2 induces activation of coagulation and fibrinolysis: resemblance to the changes seen during experimental endotoxaemia.

    abstract::The administration of Interleukin-2 (IL-2) causes the release or generation of other cytokines such as tumour necrosis factor (TNF) which, by disturbing the anticoagulant properties of the endothelium, may induce a procoagulant state in patients receiving this drug. We therefore evaluated the effects of IL-2 on coagul...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1992.tb06421.x

    authors: Baars JW,de Boer JP,Wagstaff J,Roem D,Eerenberg-Belmer AJ,Nauta J,Pinedo HM,Hack CE

    更新日期:1992-10-01 00:00:00

  • Serum chemokine levels in Hodgkin lymphoma patients: highly increased levels of CCL17 and CCL22.

    abstract::Hodgkin lymphoma (HL) is characterized by a minority of neoplastic Hodgkin-Reed Sternberg (HRS) cells surrounded by a non-neoplastic reactive infiltrate. As immunological mechanisms appear to be crucial in classical HL pathogenesis, altered serum chemokine levels might be related to disease activity. Serum levels of n...

    journal_title:British journal of haematology

    pub_type: 杂志文章,多中心研究

    doi:10.1111/j.1365-2141.2007.06964.x

    authors: Niens M,Visser L,Nolte IM,van der Steege G,Diepstra A,Cordano P,Jarrett RF,Te Meerman GJ,Poppema S,van den Berg A

    更新日期:2008-03-01 00:00:00

  • Aminophospholipid exposure, microvesiculation and abnormal protein tyrosine phosphorylation in the platelets of a patient with Scott syndrome: a study using physiologic agonists and local anaesthetics.

    abstract::The Scott syndrome is a rare inherited haemorrhagic disorder characterized by the inability of blood cells to expose aminophospholipids and to shed microparticles. We have had the opportunity to study a recently reported French patient with this syndrome and have confirmed by means of a fluorescence assay for transbil...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1997.5003302.x

    authors: Dachary-Prigent J,Pasquet JM,Fressinaud E,Toti F,Freyssinet JM,Nurden AT

    更新日期:1997-12-01 00:00:00

  • Autoantibodies directed against the epidermal growth factor-like domains of thrombomodulin inhibit protein C activation in vitro.

    abstract::No consensus has been obtained about the question whether autoantibodies, in particular antiphospholipid antibodies (aPL), may cause thrombosis by inhibiting thrombomodulin (TM) mediated protein C activation. In order to clarify the mechanism by which autoantibodies inhibit TM-mediated protein C activation, we have sc...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1993.tb03220.x

    authors: Oosting JD,Preissner KT,Derksen RH,de Groot PG

    更新日期:1993-12-01 00:00:00

  • Plasminogen activator inhibitor-1 is an independent diagnostic marker as well as severity predictor of hepatic veno-occlusive disease after allogeneic bone marrow transplantation in adults conditioned with busulphan and cyclophosphamide.

    abstract::We attempted to identify the diagnostic markers and severity predictors of hepatic veno-occlusive disease (VOD) in 115 adult patients who were uniformly conditioned with busulphan and cyclophosphamide and who underwent allogeneic bone marrow transplantation (BMT). A diagnosis of VOD was made according to clinical crit...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.2002.03748.x

    authors: Lee JH,Lee KH,Lee JH,Kim S,Seol M,Park CJ,Chi HS,Kang W,Kim ST,Kim WK,Lee JS

    更新日期:2002-09-01 00:00:00

  • Early clinical trials in chronic lymphocytic leukaemia in the UK.

    abstract::This is an historical account of the randomised trials in chronic lymphocytic leukaemia in the UK between the years 1978 to 2004, describing their gestation, the treatments used and the main lessons learnt. Those lessons include: (1) how best to use chlorambucil, which was the first effective treatment for CLL; (2) th...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/bjh.17159

    authors: Catovsky D,Else M

    更新日期:2020-11-01 00:00:00

  • Clinical and molecular remission after allogeneic blood cell transplantation in a patient with mantle-cell lymphoma.

    abstract::Mantle-cell lymphoma (MCL) is a B-cell tumour with a usually poor prognosis, characterized by the proliferation of small cleaved lymphocytes with a diffuse growth pattern. We report a polymerase chain reaction-based analysis of minimal residual disease in a patient who achieved complete remission after allogeneic bloo...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1996.d01-1816.x

    authors: Corradini P,Ladetto M,Astolfi M,Voena C,Tarella C,Bacigalupo A,Pileri A

    更新日期:1996-08-01 00:00:00

  • High efficacy with five days schedule of oral fludarabine phosphate and cyclophosphamide in patients with previously untreated chronic lymphocytic leukaemia.

    abstract::A multicentre single-arm study testing the efficacy and toxicity of the oral combination of fludarabine and cyclophosphamide (FC) over 5 d in 75 patients with untreated B cell-chronic lymphocytic leukaemia. Oral FC demonstrated high efficacy with overall (OR) and complete response (CR) rates of 80% and 53%, respective...

    journal_title:British journal of haematology

    pub_type: 杂志文章,多中心研究

    doi:10.1111/j.1365-2141.2008.07309.x

    authors: Cazin B,Divine M,Leprêtre S,Travade P,Tournilhac O,Delmer A,Jaubert J,Feugier P,Dreyfus B,Mahé B,Grosbois B,Maloisel F,Eghbali H,Dumontet C,Bénichou J,Guibon O,Leleu X,Leporrier M,Maloum K

    更新日期:2008-10-01 00:00:00

  • Chelation studies with 2,3-dihydroxybenzoic acid in patients with beta-thalassaemia major.

    abstract::2-3-Dihydroxybenzoic acid was evaluated as a potentially useful, orally effective iron-chelating drug by performing iron balance studies in patients with beta-thalassaemia major. The administration of this substance at 25 mg/kg/d to five patients for 8 d caused an average increase in iron excretion of 4.5 mg/d. When t...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1976.tb03566.x

    authors: Peterson CM,Graziano JH,Grady RW,Jones RL,Vlassara HV,Canale VC,Miller DR,Cerami A

    更新日期:1976-08-01 00:00:00

  • BIOMED-2 PCR assays for IGK gene rearrangements are essential for B-cell clonality analysis in follicular lymphoma.

    abstract::B-cell clonality analysis is commonly performed by polymerase chain reaction (PCR) targeting the IGH genes although a high false-negative rate is recognized for germinal centre/post-germinal centre B-cell malignancies, especially follicular lymphoma. We assessed the diagnostic value of BIOMED-2 IGK assays and investig...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2011.08803.x

    authors: Payne K,Wright P,Grant JW,Huang Y,Hamoudi R,Bacon CM,Du MQ,Liu H

    更新日期:2011-10-01 00:00:00

  • Bleeding time, blood groups and von Willebrand factor.

    abstract::The bleeding time in healthy volunteers was determined according to both the Ivy and the Simplate II techniques. A significantly longer bleeding time in people with blood group O than in people with non-O blood groups was demonstrated with both techniques. This difference could not be attributed to a difference in sex...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.1989.tb00255.x

    authors: Caekebeke-Peerlinck KM,Koster T,Briët E

    更新日期:1989-10-01 00:00:00

  • Association between hyperflexibility of the thumb and an unexplained bleeding tendency: is it a rule of thumb?

    abstract::A bleeding tendency manifested by petechiae and ecchymoses is one of the most common causes for referral of patients to haematology clinics. Vessel wall pathology is not usually considered to be a cause for deranged haemostasis, although coexistence of increased capillary fragility and joint hypermobility have been re...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2141.1998.00697.x

    authors: Kaplinsky C,Kenet G,Seligsohn U,Rechavi G

    更新日期:1998-05-01 00:00:00

  • Double-negative regulatory T cells induce allotolerance when expanded after allogeneic haematopoietic stem cell transplantation.

    abstract::Double-negative (DN) regulatory T cells (Tregs) are specialized T lymphocytes involved in the down-modulation of immune responses, resulting in allotolerance after allogeneic haematopoietic stem cell transplantation (HSCT). Most of the properties of DN Tregs were identified in murine models, including the unique abili...

    journal_title:British journal of haematology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2141.2008.07021.x

    authors: McIver Z,Serio B,Dunbar A,O'Keefe CL,Powers J,Wlodarski M,Jin T,Sobecks R,Bolwell B,Maciejewski JP

    更新日期:2008-04-01 00:00:00