PB1213 - Combined hemophilias in Mexican patients

Tuesday, June 25, 2024

13:45 – 14:45 ICT

Room: Exhibition Hall

Co-Author(s)

Margarita M. Thomas, MD

Medical Resident on Thrombosis and Hemostasis
1Unidad de Investigación Médica en Trombosis, Hemostasia y Aterogénesis, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Mexico city, Distrito Federal, Mexico

Presenting Author(s)

Emely J. Soriano, MD

Medical resident on thrombosis and hemostasis
Unidad de Investigación Médica en Trombosis, Hemostasia y Aterogénesis, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Mexico City, Distrito Federal, Mexico

Co-Author(s)

Jose A. Aguilar

Medical resident on thrombosis and hemostasis
Unidad de Investigación Médica en Trombosis, Hemostasia y Aterogénesis, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Ciudad de México, Distrito Federal, Mexico
Marilyn G. Mendoza, MD

Medical resident on thrombosis and hemostasis
Unidad de Investigación Médica en Trombosis, Hemostasia y Aterogénesis, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Mexico City, Distrito Federal, Mexico
Andric Cuevas-Juárez, MD

Medical resident on thrombosis and hemostasis
Unidad de Investigación Médica en Trombosis, Hemostasia y Aterogénesis, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Mexico city, Distrito Federal, Mexico
ML

María Graciela Leal Gutiérrez

Medical resident on thrombosis and hemostasis
Unidad de Investigación Médica en Trombosis, Hemostasia y Aterogénesis, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Mexico City, Distrito Federal, Mexico
Adriana G. Garcia

Medical resident on thrombosis and hemostasis
Unidad de Investigación Médica en Trombosis, Hemostasia y Aterogénesis, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Mexico City, Distrito Federal, Mexico
TM

Tania Marisol Martinez Garcia

Medical resident on thrombosis and hemostasis
Unidad de Investigación Médica en Trombosis, Hemostasia y Aterogénesis, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Mexico City, Distrito Federal, Mexico
Stephania Sandoval Ocampo, Hematologist

Medical resident on thrombosis and hemostasis
Unidad de Investigación Médica en Trombosis, Hemostasia y Aterogénesis, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Ciudad de méxico, Mexico City, Mexico
Abraham S. Majluf

Head of the thrombosis and hemostasis unit
Unidad de Investigación Médica en Trombosis, Hemostasia y Aterogénesis, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Mexico City, Distrito Federal, Mexico

Background: Hemophilia is a bleeding disorder in which there is a deficiency or dysfunction of one or more clotting factor. This entity has a variable hemorrhagic phenotype that may or may not be related to the level of deficiency/dysfunction. Hemophilias A and B are common deficiencies however, there are multiple combinations of concomitant deficits (including platelet defects), with different inheritance patterns and hemorrhagic expression. Global incidence of combined hemophilia is low and, in the Mexican population, there is no evidence regarding this matter. It is fundamental to suspect and diagnose these entities to indicate managements and follow-up.

Aims: To inform about combined hemophilias in Mexican patients.

Methods: This is a prospective, observational, descriptive study from 2011 to 2023. Mexican children and adults of both genders were included. The study was carried out at a national reference center for hemorrhagic disorders. Activity of clotting factors and platelet function tests were assayed and the hemorrhagic phenotype determined.

Results: During the study period, 1,490 patients were evaluated. In 838 of them (56.2%), a single hemophilia was found and from these, 639 (76.2%) a second hemophilia was sought. A second hemophilia was found in 89 cases (10%), and a third hemophilia in 11 patients. They were 33 children (1–15 years) and 56 adults (18-78 years). Considering these 89 patients, 39 had a history of at least one severe hemorrhage; 31 had non-severe hemorrhagic episodes and, in 19 cases, the diagnosis was made in routine studies (Table 1 and Figure 1).

Conclusion(s): Clinical presentation of combined hemophilias is variable and the hemorrhagic phenotype may not correlate with the intensity of the deficiency which translates into diagnostic and therapeutic challenges. Our results reinforce the fact that a high index of suspicion is required in all hemophilia patients regarding concomitant hemophilic states to reduce the bleeding associated morbimortality.