Features include always present findings: Abnormal bleeding tendency (abnormal bleeding), Ecchymosis, Abnormal umbilical stump bleeding, and Factor XIII subunit A deficiency and others; and common findings: Spontaneous hematomas and Persistent bleeding after trauma. 12 total HPO annotations.

F13A1 encodes coagulation factor XIII A chain (732 aa). Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Highest expression in Adipose Visceral Omentum (110.3 TPM) and Adipose Subcutaneous (106.0 TPM).

Factor XIII, A subunit, deficiency of is caused by mutations in the F13A1 gene on chromosome 6.

F13A1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 17.4.

Genetic testing for F13A1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 always present features, 2 common features.

No clinical trials have been registered for factor XIII, A subunit, deficiency of.

7 publications have been identified in PubMed for factor XIII, A subunit, deficiency of. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (43%), and Review / Meta-Analysis (14%).

Recent Publications

• Pieples LA (2026). [PMID: 42184124](https://pubmed.ncbi.nlm.nih.gov/42184124/). *J Vet Intern Med*. [Case Report / Case Series]

• Jacobs JW (2026). [PMID: 41583548](https://pubmed.ncbi.nlm.nih.gov/41583548/). *Clin Hematol Int*. [Review / Meta-Analysis]

• Wang M (2026). [PMID: 41524096](https://pubmed.ncbi.nlm.nih.gov/41524096/). *Mol Genet Genomic Med*. [Case Report / Case Series]

• Odame J (2025). [PMID: 40893649](https://pubmed.ncbi.nlm.nih.gov/40893649/). *Res Pract Thromb Haemost*. [Case Report / Case Series]

• Del Carpio-Cano F (2025). [PMID: 39995753](https://pubmed.ncbi.nlm.nih.gov/39995753/). *Res Pract Thromb Haemost*. [Basic Science / Preclinical]