27 documents found, page 1 of 3

Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Po...

The Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for sickle cell disease newborn screening, including 188,217 samples, was performed between May 2021 and December 2023, with phase I, including 24,130 newborns, in the Lisbon and Setubal districts...

The Effect of Globalization on Hemoglobinopathies and its Genetic Inheritance: ...

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Silent Changes In Blood Pressure In Sickle Cell Anemia - Clinical Case Of A Sev...

Recent studies indicate that high blood pressure is not uncommon in sickle cell disease patients, largely manifested by masked hypertension, and the specific endothelial lesions that occur in this disease may put them at greater risk of acute and chronic cardiovascular events. Posterior reversible encephalopathy syndrome is a potentially serious acute neurological manifestation of an hypertensive crisis and thi...

Fanconi Anemia: How to Recognize It Before Bone Marrow Failure?

Fanconi anemia is the most common of the rare inherited bone marrow failure syndromes. It is caused by genetic mutations that lead to genomic instability, the hallmark of the disorder. Therefore, patients are extremely vulnerable to bone marrow failure, leukemia and neoplasms. Several physical anomalies have been associated, affecting multiple organ systems. We present three cases in whom the diagnosis was made...

Diamond-Blackfan Anemia: Case Series in a Portuguese Tertiary Level Hospital

Introduction: Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia associated with congenital abnormalities and evolving to bone marrow failure. It should be considered when the evolution differs from transient erythroblastopenia of childhood. Methods: Retrospective and descriptive study including the DBA cases followed in a Unit of Pediatric Hematology in a Portuguese tertiary level hospital, o...

Sinus Tachycardia in the Adolescent: The Importance of Differential Diagnosis

Sinus tachycardia is common in pediatric age, and is usually related to benign physiological conditions, such as somatoform disorders. Nevertheless, it can also be a presenting sign of a disease with an ominous prognosis. We present a case of a previously healthy 15-year-old girl, admitted for syncope. She had been well until one week before admission, when thoracic pain developed. One month prior to the admiss...

A novel haemoglobin variant mimicking cyanotic congenital heart disease

Increased red cell distribution width in Fanconi anemia: a novel marker of stre...

Trombocitopénia Neonatal Aloimune – Apresentação Clínica Tardia

Introdução: A trombocitopénia neonatal aloimune é a causa mais comum de trombocitopénia isolada no recém-nascido saudável, devendo-se à destruição das plaquetas fetais/neonatais induzida por aloanticorpos plaquetários maternos dirigidos contra antigénios plaquetários fetais. Caso Clínico: Apresenta-se o caso de um lactente com um mês de vida, internado por um quadro de petéquias generalizadas e equimoses nos me...

Doença de von Willebrand: dificuldades no diagnóstico

Resumo A doença de von Willebrand (DvW), provocada por uma alteração quantitativa ou qualitativa do factor de von Willebrand (fvW), é a causa hereditária de hemorragia mais frequente. Existem três tipos principais, que condicionam uma maior ou menor gravidade do quadro clínico. Com o objectivo de ilustrar as dificuldades no diagnóstico e algumas particularidades da evolução na DvW, são apresentados e discutidos...