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A novel nonsense RPS26 mutation in a patient with Diamond-Blackfan anemia: a case report.
J Med Case Rep
November 2024
Department of Medical Genetics, Adana Faculty of Medicine, Adana City Education and Research Hospital, University of Health Sciences, Adana, Turkey.
Article Synopsis
- Diamond-Blackfan anemia is a rare genetic disorder linked to mutations in ribosomal protein genes, and this report introduces a new variant in the RPS26 gene that hasn't been previously documented.
- A 16-month-old Turkish girl was diagnosed with the condition, showing symptoms like pallor and macrocytosis, with genetic testing revealing the novel c.221G>T (p.C74F) mutation in the RPS26 gene.
- This discovery highlights the complexity of Diamond-Blackfan anemia's genetic diversity and emphasizes the importance of genetic testing for accurate diagnosis and potential future treatments.
Long-term hematopoietic dysfunction in patients with large-scale mitochondrial DNA deletion syndromes.
Pediatr Blood Cancer
January 2025
Division of Pediatric Hematology and Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
Article Synopsis
- Pearson syndrome (PS) and Kearns-Sayre syndrome (KSS) are mitochondrial DNA deletion syndromes with PS causing severe childhood cytopenia and KSS having later onset without blood-related issues, both sharing a common mitochondrial DNA deletion.
- A study of 16 patients revealed that 75% had cytopenia, with many needing blood transfusions, and even after achieving transfusion independence, they showed persistent bone marrow (BM) dysfunction.
- The research highlights that BM dysfunction is a consistent finding in SLSMD syndromes, which raises concerns about potential clonal evolution and chromosome 7 abnormalities, underscoring the need for specialized hematological monitoring for these patients.
Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients.
Ann Hematol
October 2024
Department of Haematogenetics, ICMR-National Institute of Immunohematology, Indian Council of Medical Research, 13th Floor, NMS Building, King Edward Memorial (KEM.) Hospital Campus, Parel, Mumbai, 400012, India.
Article Synopsis
- * The study involves identifying CSA patients using a targeted next-generation sequencing (t-NGS) panel, discovering mutations related to microcytic anaemia, and assessing their response to treatments such as pyridoxine and blood transfusions.
- * Researchers found various genetic variants among patients, primarily in European populations, and used PyMoL software to study how these mutations affect protein structure and function, aiming for a deeper understanding of CSA genetics.
Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders, of which type II CDA is the most common. Mutations in the gene located on chromosome 20 result in this autosomal recessive disorder. In this case report, we present a case of CDA II with unique biopsy findings being detected via genetic testing.
View Article and Find Full Text PDFUpdates on clinical and laboratory aspects of hereditary dyserythropoietic anemias.
Int J Lab Hematol
August 2024
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli 'Federico II', Naples, Italy.
Article Synopsis
- Hereditary dyserythropoietic anemias (CDAs) are rare genetic disorders that disrupt normal blood cell development, leading to ineffective red blood cell production and low blood cell counts.
- The identification of new genes linked to CDAs through advanced genetic sequencing has improved diagnosis and helped scientists understand how these conditions work at a biological level.
- Current treatments focus on supportive care, but recent insights into genetic mechanisms may open up new therapeutic options for managing these anemias.
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