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Reduced GATA1 levels are associated with ineffective erythropoiesis in sickle cell anemia.
Haematologica
December 2024
Red Cell Haematology Lab, Comprehensive Cancer Centre, School of Cancer and Pharmaceutical Sciences, King's College London.
Ineffective erythropoiesis (IE) is defined as the abnormal differentiation and excessive destruction of erythroblasts in the marrow, accompanied by an expanded progenitor compartment and relative reduction in the production of reticulocytes. It is a defining feature of many types of anemia, including beta-thalassemia. GATA1 is an essential transcription factor for erythroid differentiation, known to be implicated in hematological conditions presenting with IE, including beta-thalassemia and congenital dyserythropoietic anemia.
View Article and Find Full Text PDFIdentification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients.
Sci Rep
November 2024
Oxidation in Red Cell Disorders Research Unit, Department of Clinical Microscopy, Faculty of Allied Health Sciences, Chulalongkorn University, 154, Rama I Road, Patumwan district, Bangkok, Thailand.
Hereditary spherocytosis (HS) is the most prevalent form of congenital hemolytic anemia, being caused by genetic mutations in genes encoding red blood cell cytoskeletal proteins. Mutations in the ANK1 and SPTB genes are the most common causes of HS.; however, pathogenicity analyses of these mutations remain limited.
View Article and Find Full Text PDFThe unlikely combination: Anderson-Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient.
Clin Case Rep
October 2024
Academic Health System Department Hamad Medical Corporation Doha Qatar.
Article Synopsis
- - Anderson-Fabry disease (AFD) is a rare X-linked lysosomal disorder affecting lipid storage, while congenital dyserythropoietic anemia (CDA) Type II is an autosomal recessive blood condition related to ineffective red blood cell production.
- - The co-occurrence of AFD and CDA Type II is extremely rare and has never been documented before, making this case particularly significant.
- - Early screening and genetic counseling are vital for families, especially for children presenting unusual symptoms related to these distinct genetic disorders.
Transient erythroblastopenia of childhood after COVID-19 infection: a case report.
Ital J Pediatr
July 2024
Department of Woman, Child and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio, Naples, 80138, Italy.
Article Synopsis
- Transient erythroblastopenia of childhood (TEC) is a rare condition affecting children, typically linked to viral and immune factors, and has now been associated with COVID-19.
- A case is presented of a child with severe red blood cell depletion and absent erythroblasts in the bone marrow after a SARS-CoV-2 infection, showing signs similar to a known severe immune disorder (HLH).
- The report suggests that COVID-19 can induce TEC and emphasizes the need to include it in assessments of patients with unexplained red blood cell production issues, considering its relation to diseases like MIS-C.
Congenital dyserythropoietic anemia type II-A rare case report.
Indian J Pathol Microbiol
June 2024
Department of Pathology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.
Congenital dyserythropoietic anemia type II (CDA II), initially described as hereditary erythroblastic multinuclearity with a positive acidified serum test (HEMPAS), is a rare genetic disease inherited in an autosomal recessive mode that presents with mild to severe anemia. The occurrence of this entity is quite uncommon and requires extensive work-up for a conclusive diagnosis. Here, we are reporting a case of two-year-old male child who presented with severe anemia, abdominal distension, and delayed milestones.
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