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Condition report · Hematological

Rare Clotting Factor Deficiencies

Rare inherited bleeding disorders caused by a missing or reduced clotting factor other than factors VIII and IX, including deficiencies of factors II, V, VII, X and XIII. Most are recessive, so both copies of a gene must be affected, although carriers can have mild bleeding.

A condition report looks for rare variants known to cause the conditions it covers.

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The 5 conditions we analyse

Congenital Vitamin K-Dependent Coagulation Factor Deficiencies

Autosomal recessive

Inherited deficiencies of prothrombin (factor II), factor VII or factor X, or of all vitamin K-dependent factors together (caused by changes in GGCX or VKORC1), which can cause nosebleeds, easy bruising and bleeding after injury, surgery or childbirth.

What a diagnosis changes

Knowing in advance allows factor replacement to be planned around surgery and childbirth; the combined form often responds to vitamin K.

Genes analysed

Also known as

congenital vitamin K-dependent coagulation factors combined deficiency; vitamin K-dependent clotting factors, combined deficiency of

Includes 5 related subtypes ↓
  • congenital factor VII deficiency
  • congenital factor X deficiency
  • congenital prothrombin deficiency
  • vitamin K-dependent clotting factors, combined deficiency of, type 1
  • vitamin K-dependent clotting factors, combined deficiency of, type 2
MONDO:0015722Orphanet 169826Orphanet 98434MedGen 1378036

Factor VII Deficiency

Autosomal recessive · Around 1 in 300,000 to 500,000 people; it is the most common of the rare inherited bleeding disorders.

A deficiency of clotting factor VII, mainly caused by changes in F7; bleeding severity varies widely and does not always match factor levels.

What a diagnosis changes

Results help plan treatment, such as recombinant factor VIIa, for surgery and childbirth.

Genes analysed

Also known as

deficiency, stable; F7 deficiency; factor 7 deficiency

Includes 2 related subtypes ↓
  • acquired factor VII deficiency
  • congenital factor VII deficiency
MONDO:0002244MedGen 8769

Congenital Factor V Deficiency

Autosomal recessive

A deficiency of clotting factor V caused by changes in F5, leading to bleeding from the nose and gums, heavy periods and bleeding after injury or surgery.

What a diagnosis changes

Knowing about it allows treatment to be planned before surgery, dental work and childbirth.

Genes analysed

Also known as

hereditary Factor V deficiency; labile factor deficiency; Owren disease; Parahemophilia; Proaccelerin deficiency

MONDO:0009210OMIM 227400Orphanet 326MedGen 4633

Congenital Factor XIII Deficiency

Autosomal recessive

A deficiency of the clot-stabilising factor XIII, caused by changes in F13A1 or F13B, that can cause umbilical cord bleeding in newborns, poor wound healing, miscarriage and bleeding inside the skull; routine clotting tests are normal.

What a diagnosis changes

Regular preventive factor XIII replacement greatly reduces the risk of serious bleeding.

Genes analysed

Also known as

fibrin stabilising factor deficiency; fibrin stabilizing factor deficiency

Includes 2 related subtypes ↓
  • factor XIII, A subunit, deficiency of
  • factor XIII, b subunit, deficiency of
MONDO:0018029Orphanet 331MedGen 4639

Combined Factor V and Factor VIII Deficiency

Autosomal recessive

Mild to moderate bleeding caused by reduced levels of both factor V and factor VIII, due to changes in LMAN1 or MCFD2, which help carry these factors out of the cells that make them.

What a diagnosis changes

Knowing about it allows treatment to be planned before surgery, dental work and childbirth.

Genes analysed

Also known as

combined deficiency of factor V and factor type VIII; F5F8D; familial multiple coagulation factor deficiency; FV and FVIII combined deficiency

Includes 3 related subtypes ↓
  • factor 5 and Factor VIII, combined deficiency of, 2
  • factor V and factor VIII, combined deficiency of, type 1
  • factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor
MONDO:0018175Orphanet 35909MedGen 384006

Other hematological conditions

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