Thrombocytopenia, X-linked, with dyserythropoietic anemia

MedGen UID:: 864944
•Concept ID:: C4016507
•: Finding

Synonym:	THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA

OMIM®:	305371

Recent clinical studies

Etiology

Surgery of a cyanotic heart defect in an 11-year-old boy with thrombocytopenic thrombocytopathy and severe anemia due to a GATA-1 defect: hemostatic therapy.

Hoefer J, Streif W, Kilo J, Grimm M, Berger G, Velik-Salchner C
Klin Padiatr 2012 Oct;224(6):382-5. Epub 2012 Aug 22 doi: 10.1055/s-0032-1321875. PMID: 22915449

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Diagnosis

Cytopenia: a report of haplo-cord transplantation in twin brothers caused by a novel germline GATA1 mutation and family survey.

Sun XH, Liu Q, Wu SN, Xu WH, Chen K, Shao JB, Jiang H
Ann Hematol 2023 Nov;102(11):3177-3184. Epub 2023 Jul 18 doi: 10.1007/s00277-023-05363-7. PMID: 37460606

Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.

Di Pierro E, Russo R, Karakas Z, Brancaleoni V, Gambale A, Kurt I, Winter SS, Granata F, Czuchlewski DR, Langella C, Iolascon A, Cappellini MD
Eur J Haematol 2015 Jun;94(6):491-7. Epub 2014 Oct 25 doi: 10.1111/ejh.12452. PMID: 25251786

Surgery of a cyanotic heart defect in an 11-year-old boy with thrombocytopenic thrombocytopathy and severe anemia due to a GATA-1 defect: hemostatic therapy.

Hoefer J, Streif W, Kilo J, Grimm M, Berger G, Velik-Salchner C
Klin Padiatr 2012 Oct;224(6):382-5. Epub 2012 Aug 22 doi: 10.1055/s-0032-1321875. PMID: 22915449

See all (3)

Prognosis

Surgery of a cyanotic heart defect in an 11-year-old boy with thrombocytopenic thrombocytopathy and severe anemia due to a GATA-1 defect: hemostatic therapy.

Hoefer J, Streif W, Kilo J, Grimm M, Berger G, Velik-Salchner C
Klin Padiatr 2012 Oct;224(6):382-5. Epub 2012 Aug 22 doi: 10.1055/s-0032-1321875. PMID: 22915449

See all (1)

Clinical prediction guides

Cytopenia: a report of haplo-cord transplantation in twin brothers caused by a novel germline GATA1 mutation and family survey.

Sun XH, Liu Q, Wu SN, Xu WH, Chen K, Shao JB, Jiang H
Ann Hematol 2023 Nov;102(11):3177-3184. Epub 2023 Jul 18 doi: 10.1007/s00277-023-05363-7. PMID: 37460606

A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.

Bastida JM, Malvestiti S, Boeckelmann D, Palma-Barqueros V, Wolter M, Lozano ML, Glonnegger H, Benito R, Zaninetti C, Sobotta F, Schilling FH, Morgan NV, Freson K, Rivera J, Zieger B
Cells 2022 Oct 14;11(20) doi: 10.3390/cells11203223. PMID: 36291092 Free PMC Article

Platelet pathology in sex-linked GATA-1 dyserythropoietic macrothrombocytopenia I ultrastructure.

White JG, Nichols WL, Steensma DP
Platelets 2007 Jun;18(4):273-83. doi: 10.1080/09537100601065825. PMID: 17538848

Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis.

Balduini CL, Pecci A, Loffredo G, Izzo P, Noris P, Grosso M, Bergamaschi G, Rosti V, Magrini U, Ceresa IF, Conti V, Poggi V, Savoia A
Thromb Haemost 2004 Jan;91(1):129-40. doi: 10.1160/TH03-05-0290. PMID: 14691578

Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.

Freson K, Devriendt K, Matthijs G, Van Hoof A, De Vos R, Thys C, Minner K, Hoylaerts MF, Vermylen J, Van Geet C
Blood 2001 Jul 1;98(1):85-92. doi: 10.1182/blood.v98.1.85. PMID: 11418466

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Thrombocytopenia, X-linked, with dyserythropoietic anemia

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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