Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Familiäre Erythrozytose 2

Die familiäre Erythrozytose 2 ist eine autosomal rezessive Erkrankung, die durch Mutationen des VHL-Gens hervorgerufen wird. Die Mutationen im von Hippel-Lindau Gen führen zu einer verstärkten Transkription von hypoxie-induzierbaren Genen. Diese Erkrankung ist weitgehend benigne.

Gliederung

Erbliche Blutkrankheiten und Gerinnungsstörungen
Erbliche Blutungsübel
Familiäre Erythrozytose 2
VHL
Hereditäre Thrombozytenerkrankungen
Hereditäre maligne Bluterkrankungen
Ovalozytose
Paroxysmale nächtliche Hämoglobinurie
Störungen des Cobalaminstoffwechsels
Venöse thromboembolische Erkrankungen

Referenzen:

1.

Vasserman NN et al. (1999) Localization of the gene responsible for familial benign polycythemia to chromosome 11q23.

[^]
2.

Ang SO et al. (2002) Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

[^]
3.

Percy MJ et al. (2003) Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.

[^]
4.

Pastore Y et al. (2003) Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

[^]
5.

Liu E et al. (2004) The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.

[^]
6.

Gordeuk VR et al. (2004) Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.

[^]
7.

Cario H et al. (2005) Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis.

[^]
8.

Perrotta S et al. (2006) Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

[^]
9.

Hickey MM et al. (2007) von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis.

[^]
10.

Russell RC et al. (2011) Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.

[^]
11.

Ang SO et al. () Endemic polycythemia in Russia: mutation in the VHL gene.

[^]
12.

AUERBACK ML et al. (1958) Benign familial polycythemia in childhood; report of two cases.

[^]
13.

Cario H et al. (2005) Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment.

[^]
14.

Prchal JT et al. (2005) Polycythemia vera and other primary polycythemias.

[^]
15.

Kolik LM et al. (1974) [Comparative evaluation of the velocity of cerebrovascular circulation according to data of radiocirculography in patients with erythremia and anemia].

[^]
16.

Adamson JW et al. (1973) Recessive familial erythrocytosis: aspects of marrow regulation in two families.

[^]
17.

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

[^]
18.

Davey MG et al. (1968) Femilial erythrocytosis. A report of two cases, and a review.

[^]
19.

Whitcomb WH et al. (1980) Congenital erythrocytosis: a new form associated with an erythropoietin-dependent mechanism.

[^]
20.

Greenberg BR et al. (1977) Erythropoiesis in familial erythrocytosis.

[^]
21.

Sergeyeva A et al. (1997) Congenital polycythemia in Chuvashia.

[^]