We realised this study in order to determine the frequency of abnormal haemoglobins and to appreciate the need for a neonatal screening for haemoglobinopathies in Brussels. Over a two year-period, 9575 cord blood samples were systematically screened. The study disclosed following results : 40% of newborns were from regions at risk for haemoglobinopathies and abnormal haemoglobins were present in 2.5% of the neonates tested. This frequency is similar to those reported elsewhere in North Europe. The most frequent abnormal haemoglobins were the Hb S, Bart's, C, D and E. Three cases of severe forms of sickle cell anaemia were identified. The frequency of abnormal haemoglobins and Hb S traits combined to the high rate of mixed marriages (16%) justifies the need for a universal screening for haemoglobinopathies in Brussels.
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Background: This study aimed to evaluate the efficacy of third-generation sequencing (TGS) and a thalassemia (Thal) gene diagnostic kit in identifying Thal gene mutations.
Methods: Blood samples (n = 119) with positive hematology screening results were tested using polymerase chain reaction (PCR)-based methods and TGS on the PacBio-Sequel-II-platform, respectively.
Results: Out of the 119 cases, 106 cases showed fully consistent results between the two methods, with TGS identified HBA1/2 and HBB gene mutations in 82 individuals.
Background: Due to environmental hypoxia on the high-altitude local residents often exhibit a compensative increase in hemoglobin concentration to maintain the body's oxygen supply. In certain people, the number of red blood cells continues to grow, resulting in high altitude polycythemia (HAPC) which is characterized by headache, disorientation, sleeplessness, and bone discomfort. HAPC is often associated with multiple complications, of which lower extremity arteriosclerosis obliterans (LEASO) is rare.
View Article and Find Full Text PDFBackground: Hemoglobin G-Siriraj is a rare hemoglobin variant caused by a β-globin gene mutation (HBB: c.22G>A). The focus of this paper is aimed mainly at the chromatographic and electrophoretic properties of hemoglobin G-Siriraj for a presumptive identification.
View Article and Find Full Text PDFBackground: Glycosylated hemoglobin (HbA1c) is a stable compound in human blood that covalently binds the N-terminal valine residue of the β-chain in hemoglobin A to the free aldehyde group of glucose. It can reflect the average blood glucose level of patients in the past 2 - 3 months. Therefore, the accuracy of HbA1c detection results is of great significance for the diagnosis and differential diagnosis of diabetes.
View Article and Find Full Text PDFTissue Cell
January 2025
Department of Biology, Universidade Estadual Paulista (UNESP), São Paulo, Brazil; Campus de Três Lagoas, Universidade Federal de Mato Grosso do Sul (CPTL/UFMS), Mato Grosso do Sul, Brazil. Electronic address:
Sickle cell disease (SCD) is a hereditary hemolytic anemia associated with the alteration of the membrane composition of the sickle erythrocytes, the loss of glycolysis, dysregulation of the pyruvate phosphatase pathway, and changes in nucleotide metabolism of the sickle red blood cell (RBC). This review provides a comprehensive overview of the impact of the presence of Hb S, which leads to the disruption of the normal RBC metabolism. The intricate interplay between the redox and energetic balance in erythrocytic cells, where the glycolysis, pentose phosphate pathway, and methemoglobin reductase pathways are all altered in sickle RBC, is a key focus.
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