Results 41 to 50 of about 887 (167)

A Case of Congenital Afibrinogenemia [PDF]

Blood, 1957
Abstract 1. A case of congenital afibrinogenemia of a Sinhalese boy of 22 years is reported. 2. The main features of the reported cases are reviewed. 3. The principal features of this case are total absence of fibrinogen in the blood, complete non-coagulability of blood, history of several episodes of ...
P B, FERNANDO, B D, DHARMASENA
openaire   +2 more sources

A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family

Haematologica, 2021
Congenital afibrinogenemia is the most severe congenital fibrinogen disorder, characterized by undetectable fibrinogen in circulation. Causative mutations can be divided into two main classes: null mutations with no protein production at all and ...
Michel Guipponi, Frédéric Masclaux, Frédérique Sloan-Béna, Corinne Di Sanza, Namik Özbek, Flora Peyvandi, Marzia Menegatti, Alessandro Casini, Baris Malbora, Marguerite Neerman-Arbez   +9 more
doaj   +1 more source

TROMBOEMBOLISMO PULMONAR ASSOCIADO A ACIDENTE VASCULAR CEREBRAL HEMORRÁGICO EM PACIENTE COM AFIBRINOGENEMIA CONGÊNITA: RELATO DE CASO E REVISÃO DA LITERATURA

Hematology, Transfusion and Cell Therapy, 2023
Introdução: A deficiência de Fibrinogênio é uma coagulopatia rara, com prevalência aproximada de 1:1.000.000, ela pode ser quantitativa (hipo/afibrinogenemia) ou qualitativa, disfibrinogenemia.
CB Ferreira, NH Dias, L Rigoni, AC Luz, G Diaz, MLS Paula, E Bandinelli   +6 more
doaj   +1 more source

Afibrinogenémia congénita.

Acta Médica Portuguesa, 1998
The authors present a case of congenital afibrinogenemia. A review of the literature is made, and some aspects of this rare inherited coagulation disorder are suggested and commented on.
P Pastilha, L Coelho, T D Costa, G Deus, H Santos, A Rosa, F Barrocas, L Braga   +7 more
doaj   +1 more source

Bleeding characteristics and management of minor surgeries in rare bleeding disorders: report from a Turkish Pediatric Hematology Center

The Turkish Journal of Pediatrics, 2020
Background and Objectives. In this retrospective report the aim was to present the experience about bleeding characteristics and management of minor surgeries in rare bleeding disorders (RBDs). Methods.
Sema Aylan Gelen, Nazan Sarper, Emine Zengin   +2 more
doaj   +1 more source

Afibrinogenemia

Pulse, 2011
Afibrinogenemia is a rare bleeding disorder with an estimated prevalence of 1:10,00,000 [1, 2]. It is an autosomal recessive disease resulting from mutations in any of the 3 genes that encodes the 3 polypeptide chains of fibrinogen and are located on the long arm of chromosome 4 3.
I Islam, Md Moniruzzaman, Pinkoo Attawar, Tahera Nazrin   +3 more
openaire   +2 more sources

The Swiss Haemophilia Registry–Report From the First 8 Years

Haemophilia, EarlyView.
ABSTRACT Introduction Patient registries capture disease related information and provide a valuable source for real‐world data on rare diseases and their management. The Swiss Haemophilia Registry (SHR) was established in 2015 on the basis of a new Swiss federal human research act.
Alessandra Bosch, Lorenzo Alberio, Pierre Fontana, Lukas Graf, Johanna A. Kremer Hovinga, Nicolas von der Weid, Mattia Rizzi, Manuela Albisetti, the Swiss Haemophilia Network   +8 more
wiley   +1 more source

Congenital afibrinogenemia in a 4-year-old girl complicated with acute lymphoblastic leukemia

The Turkish Journal of Pediatrics, 2020
Background. Congenital fibrinogen deficiency is one of the rare inherited coagulation disorders. Congenital fibrinogen deficiency complicated with a hematological malignancy can be life threatening. Case.
Alper Özcan, Bahadır Samur, Şefika Akyol, Necdet Arda Erdoğmuş, Türkan Patıroğlu, Musa Karakükçü, Ekrem Ünal   +6 more
doaj   +1 more source

Hereditary Afibrinogenemia: Rare Bleeding Disorder Presenting with Spontaneous Extradural Hematoma – A Brief Review

Indian Journal of Neurosurgery, 2016
Afibrinogenemia is considered as rare hereditary bleeding disorder with autosomal recessive genetic transmission, caused by mutations of any one out of the three genes located on chromosome 4, responsible for coding of three polypeptide chains ...
Guru Dutta Satyarthee, Ashok K. Mahapatra   +1 more
doaj   +1 more source

Integrating Next‐Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real‐World Data From Spanish Patients

Haemophilia, Volume 31, Issue 4, Page 734-742, July 2025.
ABSTRACT Introduction Inherited coagulation factor deficiencies (ICFD) result from plasma protein deficiencies, impacting blood coagulation cascade and leading to haemorrhagic diathesis. Advancements in next‐generation sequencing (NGS) technology have enabled high‐throughput methods for molecular ICFD diagnosis.
Nina Borràs, Natàlia Comes, Lorena Ramírez, Rafael Parra, Carmen Altisent, Álvaro Lorenzo‐Vizcaya, Cristina Marzo‐Alonso, Maria‐Fernanda López‐Fernández, Mariana Canaro, María Falcón‐Rodríguez, Ángela Cortes‐Vidal, Mario A. Rios de Paz, José Antonio Rodríguez‐García, Ana Moreto‐Quintana, Perla Bandini, Carlos Hobeich, Irene Corrales, Francisco Vidal   +17 more
wiley   +1 more source