Spontaneous breast haematoma in a woman with Bernard–Soulier giant platelet disorder

Pathology ◽  
2018 ◽  
Vol 50 (5) ◽  
pp. 578-580
Author(s):  
Badr AbdullGaffar ◽  
Lakshmiah Raman
Keyword(s):  
Giant Platelet ◽  
Platelet Disorder

Platelet and Red Blood Cell Indices in Harris Platelet Syndrome.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3988-3988 ◽  
Author(s):  
Harris V.K. Naina ◽  
Samar Harris
Keyword(s):  
Blood Cell ◽  
Red Blood Cell ◽  
Blood Donors ◽  
Severe Thrombocytopenia ◽  
Giant Platelets ◽  
Giant Platelet ◽  
Normal Platelet ◽  
Platelet Disorder ◽  
Significant Difference ◽  
Blood Cell Morphology

Abstract Inherited giant platelet disorders are a group of rare disorders characterized by thrombocytopenia, giant platelets and variable bleeding symptoms. Naina et al., described a new giant platelet disorder called Harris Platelet Syndrome (HPS), the most common inherited giant platelet disorder occurring in up to one third of blood donors from north eastern part of Indian subcontinent. HPS is characterized by an autosomal dominant mode of inheritance with normal to severe thrombocytopenia (less than 50x109/L), giant platelets (mean platelet volume more than 10fL) and absent bleeding symptoms with normal platelet aggregation studies. Occasionally abnormalities in red blood cell morphology have been associated with certain giant platelet disorders such as stomatocytosis in Mediterranean Macrothrmboctopenia, dyserythropoiesis in GATA 1 associated macrothrombocytopenia and thalassemia, in X Linked Thrombocytopenia Thalassemia (XLTT). This study was undertaken to analyze the platelet and red blood cell indices in blood donors with Harris Platelet syndrome. A total of 203 blood donors were included in this study, 101 blood donors from northeaster part of India with MPV more than 12fl (normal 7–10fl) and 102 blood donors from southern part of India. Before blood donation, all donors were questioned about a history of bleeding conditions, in either themselves or their relatives. Blood samples were collected in ethylenediaminetetraacetic acid (EDTA). Automated platelet counts were performed using a Coulter STKS (Coulter, Hialeah, Florida) within 2 hours of collection. Peripheral blood smears were examined to confirm thrombocytopenia, giant platelets and red blood cell morphology. There was a significant difference between platelet count (Mean ±SD) 136± 40 Vs 262 ± 53 in southern India (p<0.000). Thirty three donors with HPS had a normal platelet count with MPV more than 12fL. MPV was 13.6±0.13 (range 12 to21.9fL) in donors with HPS and 7.3 ±0.6 (range 6–9.2fl) in southern Indian blood donors. The platelet distribution width (PDW) was 17.4±0.8 in donors with HPS and was 16.38±0.5 in southern India blood donors(p<0.000). Though there was a significant difference between hemoglobin, 13.8 ± 1.0 vs and 14.7± 1.1 (P<0.00), there was no significant difference between RDW, MCV, MCH, MCHC. Peripheral blood smear did not show any obvious red blood cell abnormality, but showed giant platelets and thrombocytopenia. Harris platelet syndrome is associated with normal to severe thrombocytopenia, giant platelets and significant platelet anisocytosis. There was no associated red blood cell abnormalities observed with HPS.

Hereditary giant platelet disorder presented as pseudothrombocytopenia

2001 ◽  
Vol 67 (5-6) ◽  
pp. 330-331
Author(s):  
E.S. Hatzipantelis ◽  
H. Tsantali ◽  
M. Athanassiou-Metaxa ◽  
K. Avramidou ◽  
D. Zambul ◽  
...  
Keyword(s):  
Giant Platelet ◽  
Platelet Disorder

BERNARD SOULIER SYNDROME IN PREGNANCY

2021 ◽  
pp. 17-19
Author(s):  
Malini Sukayogula ◽  
Manisha Pradhan ◽  
Tarakeswari Surapaneni
Keyword(s):  
Autosomal Recessive ◽  
Postpartum Haemorrhage ◽  
Von Willebrand Disease ◽  
Factor Vii ◽  
Thrombocytopenic Purpura ◽  
Giant Platelet ◽  
Platelet Disorder ◽  
Von Willebrand ◽  
Bernard Soulier Syndrome ◽  
Autosomal Recessive Pattern

Bernard-Soulier syndrome is an inherited platelet disorder, transmitted in an autosomal recessive pattern. Thrombocytopenia and large defective platelets are characteristics, often presents early with bleeding symptoms, such as epistaxis, ecchymosis, menometrorrhagia, and gingival or gastrointestinal bleeding. Diagnosis can be conrmed by platelet aggregation studies and ow cytometry. Differential diagnosis includes other inherited giant platelet disorders, as well as von Willebrand disease and immune thrombocytopenic purpura. During pregnancy, it can present as recurrent rst trimester miscarriages, antepartum, intrapartum and postpartum haemorrhage. Treatment remains generally supportive with platelet transfusions and recombinant factor VII has also been described in literature.

scholarly journals Spontaneous Platelet Aggregation With Congenital Giant Platelet Containing Large Granules and Thick Membrane

2001 ◽  
Vol 7 (4) ◽  
pp. 305-310 ◽  
Author(s):  
Zhaoyue Wang ◽  
Jumei Shi ◽  
Yue Han ◽  
Yingchun Wang ◽  
Changgeng Ruan
Keyword(s):  
Electron Microscopy ◽  
Plasma Membrane ◽  
Platelet Aggregation ◽  
Bleeding Tendency ◽  
Giant Platelets ◽  
Platelet Surface ◽  
Giant Platelet ◽  
Platelet Disorder ◽  
Platelet Disorders ◽  
Spontaneous Platelet Aggregation

Inherited giant platelet disorders are a heterogeneous group of disorders. In the current study, a patient was reported with moderate bleeding tendency, giant platelets, and spontaneous platelet aggregation, which were not affected by the administration of aspirin or ticlopidine. The electron microscopy of platelets showed a black and thick plasma membrane with crystal-like fine hairs in the exterior coat and more large and variously shaped granules in the cytoplasm. The expression of glycoprotein (GP) Ib, GP IIb, and GP IIIa on platelet surface was normal, and no mutations in genes for GP Ibα, GP Ibβ, and GP IX were detected. These phenomena are so distinguishable from those of Mondreal platelet syndrome and other hereditary giant platelet disorders, that we propose that this patient probably has a novel platelet disorder, which has not yet been reported.

scholarly journals Congenital intestinal pseudo-obstruction associated with a giant platelet disorder

1991 ◽  
Vol 28 (7) ◽  
pp. 495-496 ◽  
Author(s):  
I Pollock ◽  
S J K Holmes ◽  
M A Patton ◽  
P A Hamilton ◽  
T E Stacey
Keyword(s):  
Giant Platelet ◽  
Platelet Disorder ◽  
Intestinal Pseudo Obstruction

scholarly journals Missense Mutations of the Glycoprotein (GP) Ibβ Gene Impairing the GPIb α/β Disulfide Linkage in a Family With Giant Platelet Disorder

Blood ◽  
1997 ◽  
Vol 89 (7) ◽  
pp. 2404-2412 ◽  
Author(s):  
Shinji Kunishima ◽  
Jose A. Lopez ◽  
Sentaro Kobayashi ◽  
Nobuaki Imai ◽  
Tadashi Kamiya ◽  
...  
Keyword(s):  
Flow Cytometric Analysis ◽  
Immunoblot Analysis ◽  
Membrane Skeleton ◽  
Water Soluble ◽  
Sequencing Analysis ◽  
Missense Mutations ◽  
Nucleotide Substitutions ◽  
Disulfide Linkage ◽  
Giant Platelet ◽  
Platelet Disorder

Abstract We describe here the molecular basis of an isolated hereditary giant platelet disorder (GPD) which is not accompanied with thrombocytopenia or leukocyte inclusion. Platelet aggregation with ristocetin and botrocetin was almost normal in this patient. Flow cytometric analysis showed that the glycoprotein (GP) Ib/IX complex was expressed on the platelet membranes at decreased levels. The amount of platelet GPIbα and the plasma glycocalicin concentration, the water-soluble extracellular portion of GPIbα, were also decreased. The anti-GPIbα antibody coprecipitated GPIbβ and GPIX, although the ratios of these polypeptides to GPIbα was greatly decreased compared with the ratio in normal platelets. Immunoblot analysis under nonreduced conditions showed that most of the GPIbα in the patient's platelets was not disulfide linked with GPIbβ. DNA sequencing analysis showed compound heterozygosity for two independent single nucleotide substitutions: from Tyr (TAC) to Cys (TGC) at residue 88, and from Ala (GCC) to Pro (CCC) at residue 108 in her GPIbβ gene. These substitutions were not found in genomic DNA samples from 108 normal individuals. These mutations might result in decreased expression of the GPIb/IX complex and may influence the association of the complex with the membrane skeleton, consequently impairing normal platelet morphology. Furthermore, the phenotype caused by mutations in the subunits of the GPIb/IX complex could span the spectrum from a normal phenotype, to isolated GPD, to a full-blown bleeding disorder, such as Bernard-Soulier syndrome.

scholarly journals Mapping TRPM7 Function by NS8593

2020 ◽  
Vol 21 (19) ◽  
pp. 7017
Author(s):  
Vladimir Chubanov ◽  
Thomas Gudermann
Keyword(s):  
Animal Models ◽  
Transient Receptor Potential ◽  
Therapeutic Potential ◽  
Tumour Progression ◽  
Critical Role ◽  
Receptor Potential ◽  
Research Area ◽  
Genetic Inactivation ◽  
Giant Platelet ◽  
Platelet Disorder

The transient receptor potential cation channel, subfamily M, member 7 (TRPM7) is a ubiquitously expressed membrane protein, which forms a channel linked to a cytosolic protein kinase. Genetic inactivation of TRPM7 in animal models uncovered the critical role of TRPM7 in early embryonic development, immune responses, and the organismal balance of Zn2+, Mg2+, and Ca2+. TRPM7 emerged as a new therapeutic target because malfunctions of TRPM7 have been associated with anoxic neuronal death, tissue fibrosis, tumour progression, and giant platelet disorder. Recently, several laboratories have identified pharmacological compounds allowing to modulate either channel or kinase activity of TRPM7. Among other small molecules, NS8593 has been defined as a potent negative gating regulator of the TRPM7 channel. Consequently, several groups applied NS8593 to investigate cellular pathways regulated by TRPM7. Here, we summarize the progress in this research area. In particular, two notable milestones have been reached in the assessment of TRPM7 druggability. Firstly, several laboratories demonstrated that NS8593 treatment reliably mirrors prominent phenotypes of cells manipulated by genetic inactivation of TRPM7. Secondly, it has been shown that NS8593 allows us to probe the therapeutic potential of TRPM7 in animal models of human diseases. Collectively, these studies employing NS8593 may serve as a blueprint for the preclinical assessment of TRPM7-targeting drugs.

Inherited Macrothrombocytopenia with Distinctive Platelet Ultrastructural and Functional Features

2000 ◽  
Vol 83 (01) ◽  
pp. 35-41 ◽  
Author(s):  
Franco Ranelletti ◽  
Nicola Maggiano ◽  
Giovanni Ciabattoni ◽  
Raimondo De Cristofaro ◽  
Raffaele Landolfi ◽  
...  
Keyword(s):  
Shape Change ◽  
Giant Platelets ◽  
Phase Microscopy ◽  
Ultrastructural Studies ◽  
Giant Platelet ◽  
Platelet Disorder ◽  
Functional Features ◽  
Immunohistochemical Studies

SummaryWe report a family with inherited macrothrombocytopenia and characteristic large membrane complexes in the platelets. Two affected subjects had platelet counts of 40 and 65X109/L respectively as assessed by contrast phase microscopy. Ultrastructural studies revealed giant spheroid platelets with characteristic large membrane complexes and/or giant vacuoles containing platelet organelles. Immunohistochemical studies of actin and tubulin showed a disorganization of the microtubule and actin systems. These abnormalities were absent in leukocytes, indicating a platelet-specific cytoskeleton disorder.Platelet autoantibodies were repeatedly absent. Nevertheless, in the peripheral blood we observed several figures of platelet phagocytosis by macrophages and neutrophils. The in vitro aggregometric response of platelets to ADP, collagen, thrombin, ristocetin was present, but shape change was absent. The urinary excretion of thromboxane A2 metabolites of the affected subjects were approximately 2 standard deviations above control values, in spite of a reduced maximal biosynthetic capacity of thromboxane from giant platelets assessed in vitro during whole blood clotting.This inherited platelet disorder shows structural and functional features which allow to distinguish it from other syndromes associated with giant platelets. We also propose to include ultrastructural and cytoskeletal studies in the diagnosis as well as in the classification of inherited giant platelet disorders.

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