Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thrombocythemia 3

Thrombocythemia 3 is an autosomal dominant disorder caused by Mutations of the JAK2 gene which is characterized by elevated platelet counts.

Systematic

Inheritable platelet disorders
Alloimmune thrombocytopenia
Bernard-Soulier syndrome
Bleeding disorder platelet-type 9
Glycoprotein 1a deficiency
IVIC syndrome
MYH9 related disorders
Mediterranean macrothrombocytopenia
Thrombasthenia of Glanzmann and Naegeli
Thrombocythemia 3
JAK2
Wiskott–Aldrich syndrome

References:

1.

Baxter EJ et. al. () Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.

[^]
2.

Kralovics R et. al. (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders.

[^]
3.

Mead AJ et. al. (2012) Germline JAK2 mutation in a family with hereditary thrombocytosis.

[^]
4.

Singal U et. al. (1983) Essential thrombocythemia: a clonal disorder of hematopoietic stem cell.

[^]
5.

Gaetani GF et. al. (1982) Primary thrombocythemia: clonal origin of platelets, erythrocytes, and granulocytes in a GdB/GdMediterranean subject.

[^]
6.

Fialkow PJ et. al. (1981) Evidence that essential thrombocythemia is a clonal disorder with origin in a multipotent stem cell.

[^]
7.

Lata K et. al. (2010) JAK2 mutations and coronary ischemia.

[^]
Update: Sept. 26, 2018