4 documents found, page 1 of 1
Cold Agglutinin Syndrome and Hemophagocytic Lymphohistiocytosis: An Unusual Com...
Sousa Nunes, B; Gouveia, C; Kjollerstrom, P; Farela Neves, JAutoimmune hemolytic anemia (AIHA) and hemophagocytic lymphohistiocytosis (HLH) are rare complications of infectious mononucleosis. The authors describe a 12-year-old male with acute infectious mononucleosis, hepatitis, cholestasis, and an autoimmune hemolytic disorder caused by cold agglutinins IgM (anti-i specificity). Clinical deterioration with persistent fever, anemia, and hepatosplenomegaly was consistent...
Haemophilia A: Health and Economic Burden of a Rare Disease in Portugal
Café, A; Carvalho, M; Crato, M; Faria, M; Kjollerstrom, P; Oliveira, C; Pinto, PR; Salvado, R; Dos Santos, AA; Silva, CHaemophilia A is a hereditary bleeding disorder, which has been considered rare and chronic. The burden of this disease in Portugal remains unknown. The aim of this study was to estimate the annualized cost and health burden of haemophilia A in Portugal.
Sickle cell anemia - Nitric oxide related genetic modifiers of hematological an...
Aguiar, L; Matos, A; Gil, A; Afonso, C; Almeida, S; Braga, L; Lavinha, J; Kjollerstrom, P; Faustino, P; Bicho, M; Inácio, ASickle cell anemia (SCA) is an inherited blood disorder. SCA patients present clinical and hematologic variability that cannot be only explained by the single mutation in the beta-globin gene. Others genetic modifiers and environmental effects are important for the clinical phenotype. SCA patients present arginine deficiency that contributes to a lower nitric oxide (NO) bioactivity.
Prolonged Thrombocytopenia in a Child with Severe Neonatal Alloimmune Reaction ...
Salva, I; Batalha, S; Maia, R; Kjollerstrom, PFetomaternal alloimmune thrombocytopenia (FMAIT) caused by maternal antibodies is the leading cause of severe neonatal thrombocytopenia. A 1-month-old Caucasian girl was referred to our Hematology Clinic for persistent thrombocytopenia diagnosed after a bleeding episode. Diagnostic tests suggested FMAIT. Mild thrombocytopenia persisted for 18 months, and subsequent findings of dysmorphic facies, short stature a...