Epidemiological and Biological Profiles of Constitutional Coagulation Deficiencies at CHU Ibn Rochd Hematology...

Rare coagulation factor deficiencies are uncommon inherited bleeding disorders that remain poorly understood in many parts of the world, including Morocco. They primarily involve factors I, II, V, VII, X, XI, and XIII, and are generally inherited in an autosomal recessive manner. This study aims to analyze the epidemiological and biological profiles of these deficiencies in a Moroccan population.

This is a retrospective descriptive study conducted over a ten-year period (January 2015 - May 2025) in the Hematology Laboratory of the Ibn Rochd University Hospital in Casablanca. Thirty-seven patients presenting with abnormal coagulation profiles were included. The data analyzed included the distribution by type of rare coagulation factor deficiency, gender, family history, type of bleeding syndrome, global means of prothrombin time (PT), activated partial thromboplastin time (aPTT), and fibrinogen, as well as the range of the deficient factor levels. Laboratory analyses were performed using the Sysmex CN-3000 analyzer, and statistical processing was carried out using the Jamovi software.

The study included 37 patients with rare coagulation factor deficiencies. Factor VII deficiency was the most frequent (40.54 %), followed by factor V (21.62 %), factor X (18.93 %), factor II (13.51 %), and factor XI (5.40 %). A female predominance was observed (62.17 %). Epistaxis was the most frequently reported clinical manifestation (24.34 %), followed by muscle hematoma (16.21 %) and hemarthrosis (10.81 %). Family investigations contributed to diagnosis in 16.22 % of cases. Factor levels varied widely depending on the type of deficiency, with several severe cases (< 1 %). Coagulation testing showed a mean PT of 30.86 %, a mean aPTT of 62.8 sec-onds, and a mean fibrinogen level of 3.27 g/L.

This study, the first of its kind in Morocco, highlights the need to strengthen diagnostic and management tools for these rare bleeding disorders. It also provides a solid foundation for future research, particularly at the molecular level.