Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary bleeding disorders

Hereditary defects in coagulation factors form up this group.

Systematic

Hereditary diseases of the hematopoetic system and coagulopathies
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Disorders of cobalamin metabolism
Familial erythrocytosis 2
H syndrome
Hereditary bleeding disorders
Afibrinogenemia
FGA
FGB
FGG
Disturbances of vitamin K metabolism
Combined deficiency of vitamin K-dependent clotting factors type 1
GGCX
Combined deficiency of vitamin K-dependent clotting factors type 2
VKORC1
Coumarin resistance
CYP2A6
CYP2C9
CYP4F2
VKORC1
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
GGCX
Dysfibrinogenemia
FGA
FGB
FGG
Factor XII deficiency
F12
Factor XIII A subunit deficiency
F13A1
Factor XIII B subunit deficiency
F13B
Plasminogen activator inhibitor deficiency
SERPINE1
Hereditary malign blood disorders
Inheritable platelet disorders
Ovalocytosis
Paroxysmal nocturnal hemoglobinuria
Retinitis pigmentosa and erythrocytic microcytosis
Thromboembolic diseases
Vasculitis due to ADA2 deficiency

References:

1.

Basi DL et al. (1999) Bleeding and coagulation problems in the dental patient. Hereditary disease and medication-induced risks.

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2.

Baker WF et al. (1999) Treatment of hereditary and acquired thrombophilic disorders.

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3.

Nitu-Whalley IC et al. (1999) Acquired von Willebrand syndrome--report of 10 cases and review of the literature.

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4.

Santagostino E et al. (2000) Guidelines on replacement therapy for haemophilia and inherited coagulation disorders in Italy.

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5.

None (2000) Coagulation and bleeding disorders: review and update.

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6.

None (2001) Vascular thrombohemorrhagic disorders: hereditary and acquired.

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7.

None (2004) Inherited bleeding disorders: disorders of platelet adhesion and aggregation.

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8.

Roberts HR et al. (2004) Current concepts of hemostasis: implications for therapy.

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9.

None (2005) von Willebrand disease in the developing world.

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10.

Peyvandi F et al. (2006) Genetic diagnosis of haemophilia and other inherited bleeding disorders.

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11.

Asselta R et al. (2006) The molecular basis of quantitative fibrinogen disorders.

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12.

Dargaud Y et al. (2007) Haemophilia therapies.

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13.

Franchini M et al. (2007) Prophylaxis in von Willebrand disease.

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14.

Hill M et al. (2008) Diagnosis, clinical features and molecular assessment of the dysfibrinogenaemias.

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15.

None (2009) Role of antithrombin concentrate in treatment of hereditary antithrombin deficiency. An update.

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16.

None (1996) Disorders of platelet function.

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Update: April 29, 2019