Complete correction of Glanzmann's thrombasthenia by allogeneic bone‐marrow transplantation

Bellucci, Sylvia; Devergié, A; Gluckman, Éliane; Tobelem, G; Lethielleux, Pierre; Benbunan, M; Schaison, G; Boiron, M

doi:10.1111/j.1365-2141.1985.tb07358.x

Cited by 58 publications

(40 citation statements)

References 11 publications

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“…6 Type 1 GT was confirmed because platelet aggregation and clot retraction were repeatedly nil, and GPIIb/IIIa complex undetectable either by SDS-PAGE electrophoresis, immunoblotting or flow cytometry. 9 She had frequent epistaxis leading to severe anemia requiring continuous iron supplementation.…”

Section: Casementioning

confidence: 98%

“…6 He was diagnosed as having type I thrombasthenia at the age of 2 years. At the age of 4, he had repeated life-threatening hemorrhages which required several transfusions.…”

Section: Casementioning

confidence: 99%

“…She was successfully treated with a bone marrow transplant (BMT) (Figure 1). We also update the case of her brother who had been transplanted 16 years previously 6 ( Figure 1) and we review the two cases reported in the literature 7,8 in an attempt to define the indications for BMT in GT.…”

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confidence: 99%

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Bone marrow transplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization

Bellucci

Damaj

Boval

et al. 2000

Bone Marrow Transplant

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Summary:Glanzmann's thrombasthenia is an autosomal recessive disorder characterized by a lack of platelet aggregation due to the absence of platelet glycoprotein IIb and IIIa. Usually, the disease leads to mild hemorrhage but sometimes bleeding is severe enough to be life-threatening. We report the case of a 16-year-old girl, presenting with very severe type 1 Glanzmann's thrombasthenia, successfully treated with an HLA-identical sibling bone marrow transplant (BMT). We also update the clinical and laboratory data of her brother, who had received a BMT 16 years ago for the same disease. In the light of these two cases and two others published in the literature, we discuss the indications for BMT from HLAidentical sibling donors in Glanzmann's thrombasthenia. Alloimmunization against the missing platelet GPIIb/IIIa complex and severity of bleeding episodes may constitute sufficient criteria for allogeneic BMT after careful assessment of the risk-benefit of such a procedure, although this remains exceptional in this disease. Bone Marrow Transplantation (2000) 25, 327-330.

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Section: Casementioning

confidence: 98%

“…6 He was diagnosed as having type I thrombasthenia at the age of 2 years. At the age of 4, he had repeated life-threatening hemorrhages which required several transfusions.…”

Section: Casementioning

confidence: 99%

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Bone marrow transplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization

Bellucci

Damaj

Boval

et al. 2000

Bone Marrow Transplant

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“…Bone marrow transplantation and stem cell reconstitution can cure the disorder, 234,235 but the risks of these procedures remain substantial, even with newer conditioning regimens, and thus they are still not desirable options for most patients (reviewed in Flood et al 236 ). Proof of concept for gene therapy of Glanzmann thrombasthenia has been provided in animal models 237 (reviewed in Wilcox and White 238 ), but much more remains to be done, including how to deal with the immune response to the newly expressed ␣IIb␤3.…”

Section: Org Frommentioning

confidence: 99%

The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend

Coller

Shattil

2008

Blood

319

342

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Starting 90 years ago with a clinical description by Glanzmann of a bleeding disorder associated with a defect in platelet function, technologic advances helped investigators identify the defect as a mutation(s) in the integrin family receptor, ␣IIb␤3, which has the capacity to bind fibrinogen (and other ligands) and support platelet-platelet interactions (aggregation). The receptor's activation state was found to be under exquisite control, with activators, inhibitors, and elaborate inside-out signaling mechanisms controlling its conformation. Structural biology has produced high-resolution images defining the ligand binding site at the atomic level. Research on ␣IIb␤3 has been bidirectional, with basic insights resulting in improved Glanzmann thrombasthenia carrier detection and prenatal diagnosis, assays to identify single nucleotide polymorphisms responsible for alloimmune neonatal thrombocytopenia, and the development of ␣IIb␤3 antagonists, the first rationally designed antiplatelet agents, to prevent and treat thrombotic cardiovascular disease. The future looks equally bright, with the potential for improved drugs and the application of gene therapy and stem cell biology to address the genetic abnormalities. The ␣IIb␤3 saga serves as a paradigm of rigorous science growing out of careful clinical observations of a rare disorder yielding both important new scientific information and improved diagnosis, therapy, and prevention of other disorders. (Blood. 2008;112: 3011-3025) Introduction"Thus blood, for all its raw physicality, its heat, color and smell, remains first and foremost a powerfully symbolic substancecapable of representing the most primeval forces of life, and of death." 1 "… for the blood is life …" Deuteronomy 12:23To celebrate the 50th anniversary of Blood, we offer an historical account of research on our favorite receptor on the platelet surface, GPIIb/IIIa, or integrin ␣IIb␤3. This receptor plays an important role in hemostasis and thrombosis, and in accord with the quotations above, both processes have profound effects on life and health. The origin of the English word blood is uncertain. It may derive from a postulated Indo-European root bhel, "bloom" or "sprout," and it has been speculated that "ancient people looked upon the effusion from incised skin as a sort of blooming," 2 an image well known to practitioners of the bleeding time.The dominant theme in this review is how improved understanding of the structure and function of ␣IIb␤3 has led to opportunities to translate that knowledge into biomedical advances, including the development of ␣IIb␤3 antagonists, the first class of rationally designed antiplatelet agents. The subtheme is how advances in scientific technology deriving from discoveries in other fields have been crucial to improving our understanding of ␣IIb␤3. Figure 1 is a timeline depicting, by category, approximately when different technologies were introduced into the investigation of blood platelets and/or ␣IIb␤3. Thus, as with a musical fugue, we will try to tell 2 sto...

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“…Although Caen 17 stressed the amelioration of bleeding manifestations with age, Reichert et al 5 have confirmed that bleeding manifestations persist into adulthood. Some patients benefit from allogenic bone marrow transplantation, 18 but in many platelet transfusion therapy controls the bleeding or epistaxis. …”

Section: Discussionmentioning

confidence: 99%

Glanzmann's Thrombasthenia Type II in a Saudi Child: A Case Report

1990

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Complete correction of Glanzmann's thrombasthenia by allogeneic bone‐marrow transplantation

Cited by 58 publications

References 11 publications

Bone marrow transplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization

Bone marrow transplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization

The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend

Glanzmann's Thrombasthenia Type II in a Saudi Child: A Case Report

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