Why the disorder induced by GATA1 Arg216Gln mutation should be called “X-linked thrombocytopenia with thalassemia” rather than “X-linked gray platelet syndrome”

Balduini, Carlo L.; Candia, Erica De; Savoia, Anna

doi:10.1182/blood-2007-03-080978

Cited by 16 publications

(12 citation statements)

References 9 publications

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“…Three more XLTT families have subsequently been described [4][5][6][7]. All reported pedigrees carry the same GATA1 mutation in exon 4, giving the amino acid change 216R > Q [4,6,8].…”

Section: Introductionmentioning

confidence: 99%

X‐linked thrombocytopenia with thalassemia displays bone marrow reticulin fibrosis and enhanced angiogenesis: Comparisons with primary myelofibrosis

et al. 2015

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X‐linked thrombocytopenia with thalassemia (XLTT) is caused by the mutation 216R > Q in exon 4 of the GATA1 gene. Male hemizygous patients display macrothrombocytopenia, splenomegaly, and a β‐thalassemia trait. We describe two XLTT families where three males were initially misdiagnosed as having primary myelofibrosis (PMF) and all five investigated males showed mild‐moderate bone marrow (BM) reticulin fibrosis. Comparative investigations were performed on blood samples and BM biopsies from males with XLTT, PMF patients and healthy controls. Like PMF, XLTT presented with high BM microvessel density, low GATA1 protein levels in megakaryocytes, and elevated blood CD34+ cell counts. But unlike PMF, the BM microvessel pericyte coverage was low in XLTT, and no collagen fibrosis was found. Further, as evaluated by immunohistochemistry, expressions of the growth factors VEGF, AGGF1, and CTGF were low in XLTT megakaryocytes and microvessels but high in PMF. Thus, although the reticulin fibrosis in XLTT might simulate PMF, opposing stromal and megakaryocyte features may facilitate differential diagnosis. Additional comparisons between these disorders may increase the understanding of mechanisms behind BM fibrosis in relation to pathological megakaryopoiesis. Am. J. Hematol. 90:E44–E48, 2015. © 2014 Wiley Periodicals, Inc.

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“…Three more XLTT families have subsequently been described [4][5][6][7]. All reported pedigrees carry the same GATA1 mutation in exon 4, giving the amino acid change 216R > Q [4,6,8].…”

Section: Introductionmentioning

confidence: 99%

X‐linked thrombocytopenia with thalassemia displays bone marrow reticulin fibrosis and enhanced angiogenesis: Comparisons with primary myelofibrosis

et al. 2015

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“…3,10,26 Most GPS families involve a single case or multiple affected siblings born to unaffected, often consanguineous parents, suggesting autosomal recessive (AR) inheritance. Rare families with autosomal dominant (AD) 30 and X-linked 19,31 variants of GPS have been reported. X-linked GPS-like disease, caused by mutations in GATA-1, results in generalized hypogranularity of platelets and erythroid abnormalities.…”

Section: Introductionmentioning

confidence: 99%

“…X-linked GPS-like disease, caused by mutations in GATA-1, results in generalized hypogranularity of platelets and erythroid abnormalities. 19,31 The genetic cause of the most common, AR type of GPS remains unknown. HZF was suggested as a candidate gene because of similarities of the Hzf-null mouse model to GPS; however, no mutations were identified in the human HZF gene in 5 patients from 3 GPS families.…”

Section: Introductionmentioning

confidence: 99%

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

Gunay‐Aygun

Zivony-Elboum

Gümrük

et al. 2010

Blood

134

116

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“…The molecular defect in GPS has been mapped to chromosome 3p21 [ There is one report of X-linked GPS due to the GATA1 Arg216Gln mutation [56]; however, some experts believe that this should be termed X-linked thrombocytopenia with thalassemia [57].…”

Section: Molecular Defectmentioning

confidence: 99%

Inherited platelet disorders: a clinical approach to diagnosis and management

Cox

Price

Kahr

2011

Expert Review of Hematology

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Inherited platelet disorders encompass a heterogeneous group of bleeding disorders where a variety of molecular defects can affect platelet number, function or both. The defects involve deficiencies or dysfunction of platelet receptors, signaling pathways, cytoskeletal proteins, granule contents and abnormalities in procoagulant activity. These disorders can be difficult to distinguish clinically as they present with the common symptom of mucocutaneous bleeding. Inherited thrombocytopenia needs to be considered in all patients suspected of having primary immune thrombocytopenia, where platelets may also have functional defects. After a careful history and physical examination, initial investigations include a complete blood count with a peripheral smear, followed by appropriate specific investigations that often require specialized referral centers. This article is a summary of the current data on clinical presentation, pathogenesis, diagnosis and management of inherited platelet disorders.

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Why the disorder induced by GATA1 Arg216Gln mutation should be called “X-linked thrombocytopenia with thalassemia” rather than “X-linked gray platelet syndrome”

Cited by 16 publications

References 9 publications

X‐linked thrombocytopenia with thalassemia displays bone marrow reticulin fibrosis and enhanced angiogenesis: Comparisons with primary myelofibrosis

X‐linked thrombocytopenia with thalassemia displays bone marrow reticulin fibrosis and enhanced angiogenesis: Comparisons with primary myelofibrosis

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

Inherited platelet disorders: a clinical approach to diagnosis and management

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