Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Somatic erythrocytosis

Somatic erythrocytosis is caused by somatic mutations of the JAK2 gene and characterized by an elevation of red blood cell counts in peripheral blood.

Systematic

Hereditary malign blood disorders
Acute myeloid leukemia
Juvenile myelomonocytic leukemia
Myelodysplastic syndrome
Myelofibrosis
Noonan syndrome-like disorder and juvenile myelomonocytic leukemia
Polycythemia vera
Somatic erythrocytosis
JAK2
Susceptibility to acute myeloid leukemia
Susceptibility to myelodysplastic syndrome

References:

1.

Dainiak N et al. (1979) Erythropoietin-dependent primary pure erythrocytosis.

[^]
2.

None (1975) Familial polycythemia.

[^]
3.

Emanuel PD et al. (1992) Familial and congenital polycythemia in three unrelated families.

[^]
4.

Juvonen E et al. (1991) Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin.

[^]
5.

Prchal JT et al. (1985) Autosomal dominant polycythemia.

[^]
6.

Yonemitsu H et al. (1973) Two cases of familial erythrocytosis with increased erythropoietin activity in plasma and urine.

[^]
7.

None () Familial polycythemia.

[^]
8.

Geary CG et al. (1967) Benign familial polycythaemia.

[^]
9.

None (1969) Polycythemia resulting from abnormal hemoglobins.

[^]
10.

Cassileth PA et al. (1966) Benign familial erythrocytosis. Report of three cases and a review of the literature.

[^]
11.

Distelhorst CW et al. (1981) Autosomal Dominant familial erythrocytosis due to autonomous erythropoietin production.

[^]
12.

de la Chapelle A et al. (1993) Familial erythrocytosis genetically linked to erythropoietin receptor gene.

[^]
13.

Kralovics R et al. (1997) Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.

[^]
14.

Kralovics R et al. (1998) Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia.

[^]
15.

None (2005) Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment.

[^]
16.

None (2005) Polycythemia vera and other primary polycythemias.

[^]
17.

Gregg XT et al. (2005) Recent advances in the molecular biology of congenital polycythemias and polycythemia vera.

[^]
18.

Bento C et al. (2014) Genetic basis of congenital erythrocytosis: mutation update and online databases.

[^]
19.

OMIM.ORG article

Omim 133100 [^]
Update: April 29, 2019