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An unusual cause of hypertrophic cardiomyopathy in an infant: A case report and brief literature review.
Tunis Med
January 2025
University of Sfax, Military University Hospital of Sfax, Cardiology Department, Sfax, Tunisia.
Introduction: Nemaline myopathy (NM), also known as Nemalinosis, is a rare congenital muscle disease with an incidence of 1 in 50000. It is characterized by nemaline rods in muscle fibers, leading to muscle weakness. We reported a case of NM revealed by cardiac involvement, and we highlighted the challenges in diagnosing this condition as well as its poor prognosis.
View Article and Find Full Text PDFCorrelation of red blood cell parameters and platelet count among adult anemic patients attending Madda Walabu University Goba Referral Hospital, Goba, Southeast Ethiopia: A comparative cross-sectional study.
Medicine (Baltimore)
January 2025
School of Medical Laboratory Sciences, Faculty of Health Sciences, Institute of Health, Jimma University, Jimma, Ethiopia.
Anemia is a worldwide public health problem and is associated with platelet disorders. The relationship between anemia and platelets is complex, with the association being either normal platelet count or thrombocytosis. Platelets are significantly decreased in patients with anemia, and thrombocytopenia has been documented in patients with severe anemia.
View Article and Find Full Text PDFHomozygous Delta-Beta Thalassaemia With Alpha Thalassaemia and Erythrocytosis- a Rare Case Report.
Br J Biomed Sci
December 2024
Department of Hematology, Sandwell and West, Birmingham Hospitals National Health Service Trust, West Bromwich, United Kingdom.
In this report, we describe a case of homozygous delta-beta (δβ) thalassaemia, a rare genetic disorder characterized by severe deficiency in delta (δ) and beta (β)-globin chain production, leading to ineffective erythropoiesis and chronic haemolytic anaemia. The patient, a 26-year-old female with δβ-thalassaemia, experienced a miscarriage. High-performance liquid chromatography revealed 89.
View Article and Find Full Text PDFClinical Management of a Rare Hereditary Bleeding Disorder in an Adult: Glanzmann Thrombasthenia.
Cureus
October 2024
Internal Medicine, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder affecting the megakaryocyte lineage and is associated mainly with mucocutaneous bleeding. We herein report a woman in her early 40s, with no known comorbidities, who presented with severe gingival bleeding and severe fatigue. Past history revealed recurrent gingival bleeding, bruising, and heavy menstrual bleeding.
View Article and Find Full Text PDFA novel mutation in the SLCO2A1 gene presenting as persistent hypoproteinaemia and refractory iron deficiency anaemia due to chronic enteropathy: a case report.
BMC Pediatr
November 2024
Department of Anatomy, Faculty of Medicine, University of Kelaniya, Colombo, Sri Lanka.
Background: The SLCO2A1 gene encodes a prostaglandin transporter and we report a novel mutation causing hypoproteinaemia and refractory anaemia due to chronic enteropathy.
Case Presentation: An 18-year-old boy of consanguineous parents was investigated for hypoproteinaemia and anaemia. He was short, pale and had generalised oedema.
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