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- Title
When alpha spectrin null alleles meet low expression alpha spectrin polymorphisms.
- Authors
Fermo, Elisa; Zaninoni, Anna; Vercellati, Cristina; Marcello, Anna Paola; Bestetti, Ilaria; Castronovo, Paola; Fattizzo, Bruno; Barcellini, Wilma; Bianchi, Paola
- Abstract
This article discusses the challenges in diagnosing mild haemolysis when there are no clear genetic variants to explain the symptoms. The authors present five patients with lifelong haemolysis that remained undefined after traditional diagnostic methods. These patients had certain laboratory features, such as altered red blood cell morphology and positive results in specific tests. The article emphasizes the need for further research to better understand and diagnose cases of congenital haemolytic anaemia. Another document discusses a study that aimed to investigate the genetic defect in patients with haemolytic anaemia. The study found that all patients had a specific genetic variant in the SPTA1 gene, along with other genetic variations. The study suggests that these genetic variations may result in a mild form of haemolytic anaemia that may be missed by diagnostic tests for hereditary spherocytosis. The findings highlight the importance of molecular investigation for accurate diagnosis and genetic counseling.
- Subjects
SPECTRIN; HEMOLYTIC anemia; ERYTHROCYTES; GENETIC counseling; GENETIC variation
- Publication
British Journal of Haematology, 2023, Vol 203, Issue 4, p684
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.19038