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Homozygous 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 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.
Assessment of myeloid response and iron status among Sudanese pediatric ESKD on hemodialysis through reticulocyte parameters and β-globin mRNA expression.
BMC Nephrol
October 2024
Department of Pathology, Faculty of Medicine and Health Sciences, Omdurman Islamic University, Khartoum, Sudan.
Background: Sudanese children with End-Stage Kidney Disease (ESKD) often show limited improvement in hemoglobin levels despite treatment with recombinant human erythropoietin (rHuEPO). This study aims to assess the response to rHuEPO therapy by analyzing β-globin mRNA expression and reticulocyte parameters. Additionally, it classifies anemia among Sudanese pediatric patients based on iron status, considering age and gender as biological markers for evaluating treatment response.
View Article and Find Full Text PDFNovel cause of bilateral proptosis in a child: orbital extramedullary haematopoietic tissue due to iron deficiency anaemia.
BMJ Case Rep
October 2024
Pediatrics, KEM Hospital Pune, Pune, Maharashtra, India.
Article Synopsis
- Childhood proptosis is a rare but critical emergency, occurring in 1.2% of hospital admissions, with various underlying causes, including infections and tumors.
- A specific case of a young girl is highlighted, where her bilateral proptosis was caused by extramedullary hematopoiesis (EMH) linked to chronic nutritional iron deficiency anemia (IDA), without accompanying hepatosplenomegaly.
- Despite the typical signs of IDA, such as severe microcytic anemia, her iron levels were paradoxically elevated, with MRI confirming the presence of EMH tissue in the orbits; treatment with red blood cell transfusion led to significant improvement in her condition.
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