Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Aplastic anemia

Aplastic anemia is a pancytopenia caused by bone marrow dysfunction. In some rare cases it is constitutional and maybe caused by mutations of the PRF1 gene.


Hereditary diseases of the hematopoetic system and coagulopathies
Aplastic anemia
Autoimmune lymphoproliferative syndrome 5
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Disorders of cobalamin metabolism
Familial erythrocytosis 2
Familial hemophagocytic lymphohistiocytosis
H syndrome
Hereditary bleeding disorders
Hereditary malign blood disorders
Inheritable platelet disorders
Paroxysmal nocturnal hemoglobinuria
Retinitis pigmentosa and erythrocytic microcytosis
Thromboembolic diseases
Vasculitis due to ADA2 deficiency
X-linked lymphoproliferative syndrome 2



Solomou EE et al. (2007) Perforin gene mutations in patients with acquired aplastic anemia.


Vulliamy T et al. (2002) Association between aplastic anaemia and mutations in telomerase RNA.


Dufour C et al. (2004) Homozygosis for (12) CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population.


Shimada H et al. (2004) First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.


Calado RT et al. (2007) Mutations in the SBDS gene in acquired aplastic anemia.

Update: Oct. 17, 2019