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Frontiers in Genetics 2023Hereditary spherocytosis (HS), the most common inherited hemolytic anemia disorder, is characterized by osmotically fragile microspherocytic red cells with a reduced...
Hereditary spherocytosis (HS), the most common inherited hemolytic anemia disorder, is characterized by osmotically fragile microspherocytic red cells with a reduced surface area on the peripheral blood smear. Pathogenic variants in five erythrocyte membrane structure-related genes (Spherocytosis, type 1; MIM#182900), (Spherocytosis, type 2; MIM#616649), (Spherocytosis, type 3; MIM#270970), (Spherocytosis, type 4; MIM#612653) and (Spherocytosis, type 5; MIM#612690) have been confirmed to be related to HS. There have been many studies on the pathogenic variants and mechanisms of HS, however, studies on how to manage the transmission of HS to the next-generation have not been reported. In this study, we recruited a patient with HS. Targeted next-generation sequencing with a panel of 208 genes related to blood system diseases detected a novel heterozygous variant in the : c.300+2dup in the proband. Sanger sequencing of variant alleles and haplotype linkage analysis of single nucleotide polymorphism (SNP) based on next-generation sequencing were performed simultaneously. Five embryos were identified with one heterozygous and four not carrying the variant. Single-cell amplification and whole genome sequencing showed that three embryos had varying degrees of trisomy mosaicism. One of two normal embryos was transferred to the proband. Ultimately, a healthy boy was born, confirmed by noninvasive prenatal testing for monogenic conditions (NIPT-M) to be disease-free. This confirmed our successful application of PGT in preventing transmission of the pathogenic variant allele in the HS family.
PubMed: 37795245
DOI: 10.3389/fgene.2023.1221853 -
International Journal of Molecular... Feb 2024The antioxidant enzymes superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPx) and peroxiredoxin 2 (Prx2) are particularly important in erythroid...
The antioxidant enzymes superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPx) and peroxiredoxin 2 (Prx2) are particularly important in erythroid cells. Reticulocytes and other erythroid precursors may adapt their biosynthetic mechanisms to cell defects or to changes in the bone marrow environment. Our aim was to perform a comparative study of the mRNA levels of and in reticulocytes from healthy individuals and from patients with hereditary spherocytosis (HS), sickle cell disease (SCD) and β-thalassemia (β-thal), and to study the association between their transcript levels and the reticulocyte maturity indices. In controls, the enzyme mRNA levels were significantly correlated with reticulocyte maturity indices for all genes except for . HS, SCD and β-thal patients showed younger reticulocytes, with higher transcript levels of all enzymes, although with different patterns. β-thal and HS showed similar reticulocyte maturity, with different enzyme mRNA levels; SCD and HS, with different reticulocyte maturity, presented similar enzyme mRNA levels. Our data suggest that the transcript profile for these antioxidant enzymes is not entirely related to reticulocyte maturity; it appears to also reflect adaptive mechanisms to abnormal erythropoiesis and/or to altered erythropoietic environments, leading to reticulocytes with distinct antioxidant potential according to each anemia.
Topics: Humans; Reticulocytes; beta-Thalassemia; Antioxidants; RNA, Messenger; Superoxide Dismutase-1; Spherocytosis, Hereditary; Anemia, Sickle Cell
PubMed: 38396832
DOI: 10.3390/ijms25042159 -
Heliyon Apr 2024The study examined the potential of Silymarin, a blend of bioactive flavonolignans extracted from the milk thistle Silybum marianum, to mitigate Deltamethrin-induced...
The study examined the potential of Silymarin, a blend of bioactive flavonolignans extracted from the milk thistle Silybum marianum, to mitigate Deltamethrin-induced toxicity in the blood of . Fish were exposed to Deltamethrin (0.66 μg/L), the plant extract, or a combination of both for a duration of thirty days. Various parameters, including serum biochemical markers, erythrocytic abnormalities, and genotoxicity endpoints, were assessed. Results indicated a significant (p < 0.05) increase in the levels of AST, ALT, ALP, blood urea nitrogen, creatinine, glucose, cholesterol, and TLC in the fish exposed to the pesticide. Conversely, total protein, TEC, and Hb showed a notable decrease. There was also a notable rise in micronuclei and erythrocytic abnormalities such as acanthocytes, microcytes, and notched cells. Under ultrastructural examination, phenotypic deformities like spherocytosis, discocytes, and clumped erythrocytes were observed. However, dietary supplementation of silymarin (1 g/kg) significantly restored the biochemical, genetic, and cellular parameters, resembling those of the control group. This suggests the potential of this plant extract in protecting the common carp, from Deltamethrin-induced damage by scavenging free radicals and reducing DNA oxidative stress.
PubMed: 38590886
DOI: 10.1016/j.heliyon.2024.e28419 -
Journal of Minimal Access Surgery Jan 2024A true left-sided gall bladder (LSG) is a rare finding, is mostly discovered incidentally and often presents with symptoms similar to those of a normally positioned gall...
A true left-sided gall bladder (LSG) is a rare finding, is mostly discovered incidentally and often presents with symptoms similar to those of a normally positioned gall bladder. The diagnosis in most cases is intraoperative. The surgical technique is frequently difficult, with an increased risk of intraoperative injuries and conversion to open surgery. In this case report, we describe a rare scenario of a young male with hereditary spherocytosis who presented with jaundice and splenomegaly. The diagnosis of LSG was made by chance during pre-operative imaging. The patient was successfully managed with a splenectomy and a cholecystectomy via the minimal access approach in the same setting.
PubMed: 37148108
DOI: 10.4103/jmas.jmas_347_22 -
Annals of Medicine and Surgery (2012) Mar 2024Hereditary spherocytosis (HS), a rare familial extravascular haemolytic disorder, typically follows an autosomal dominant inheritance pattern with variable expressivity....
INTRODUCTION AND IMPORTANCE
Hereditary spherocytosis (HS), a rare familial extravascular haemolytic disorder, typically follows an autosomal dominant inheritance pattern with variable expressivity. Despite its classical presentation of anaemia, jaundice, and splenomegaly, HS is infrequently reported among individuals of Asian descent, contributing to its under diagnosis or delayed diagnosis. The primary objective of this case report is to underscore the pivotal role of the osmotic fragility test in diagnosing HS, emphasizing the importance of accurate and timely identification for effective clinical management and improved patient outcomes.
CASE PRESENTATION
The patient, without known prior co-morbidities, presented with recurrent abdominal distension, early satiety, and easy fatigability persisting for 6 years. Physical examination revealed icterus, gnathopathy, left hypochondrium tenderness, and palpable splenomegaly. The osmotic fragility of red cells was significantly elevated. The patient underwent optimization before splenectomy, receiving immunization against encapsulated bacteria. Packed red blood cell transfusions were administered to achieve optimal haemoglobin levels. Follow-up showed symptom relief, significantly improving the patient's quality of life.
CLINICAL DISCUSSION
This case underscores the challenges of delayed HS diagnosis, with the patient enduring symptoms for years before seeking appropriate medical attention. Overlooking the simplicity and cost-effectiveness of an osmotic fragility test prolonged the diagnostic journey, emphasizing the impact on overall well-being.
CONCLUSION
HS remains underdiagnosed, especially in our regions. The osmotic fragility test emerges as an economical diagnostic tool in resource-limited settings, particularly when spherocytosis is absent in the peripheral blood smears. Its inclusion in diagnostic protocols can expedite accurate HS identification and enhance patient outcomes.
PubMed: 38463107
DOI: 10.1097/MS9.0000000000001804 -
Frontiers in Genetics 2024The objective of this study was to pinpoint pathogenic genes and assess the mutagenic pathogenicity in two pediatric patients with hereditary spherocytosis. We...
The objective of this study was to pinpoint pathogenic genes and assess the mutagenic pathogenicity in two pediatric patients with hereditary spherocytosis. We utilized whole-exome sequencing (WES) for individual analysis (case 1) and family-based trio analysis (case 2). The significance of the intronic mutation was validated through a Minigene splicing assay and supported by subsequent experiments. Both probands received a diagnosis of hereditary spherocytosis. WES identified a novel c.1504-9G>A mutation in both patients, causing the retention of seven nucleotides at the 5' end of intron 13, as substantiated by the Minigene assay. This variant results in a premature stop codon and the production of a truncated protein. studies indicated a reduced expression of the gene. The novel c.1504-9G>A variant is established as the causative factor for hereditary spherocytosis, with the c.1504-9G site functioning as a splicing receptor.
PubMed: 38655052
DOI: 10.3389/fgene.2024.1390924 -
Human Vaccines & Immunotherapeutics Dec 2023Herein, we report the case of a 22-year-old woman with hereditary spherocytosis (HS) whose condition worsened after administration of the coronavirus disease 2019...
Herein, we report the case of a 22-year-old woman with hereditary spherocytosis (HS) whose condition worsened after administration of the coronavirus disease 2019 (COVID-19), mRNA vaccine 'BNT162b2 Pfizer-BioNTech.' The woman had been diagnosed with HS in 2005, and her condition remained stable until February 2021. In March 2021, she received the first dose of the above vaccine and experienced pain at the injection site. After the second dose in April 2021, she developed fever and general malaise. Investigations revealed progression of hemolysis, which improved after a few days. To the best of our knowledge, this is the first report of progression of hemolysis in a patient with HS after administration of the mRNA vaccine COVID-19, BNT162b2 'Pfizer-BioNTech.'
Topics: Humans; Female; Young Adult; Adult; COVID-19 Vaccines; BNT162 Vaccine; Hemolysis; COVID-19; mRNA Vaccines
PubMed: 36625832
DOI: 10.1080/21645515.2023.2165381 -
Applied Bionics and Biomechanics 2023[This retracts the article DOI: 10.1155/2022/6228965.].
[This retracts the article DOI: 10.1155/2022/6228965.].
PubMed: 38075143
DOI: 10.1155/2023/9846792 -
Human Vaccines & Immunotherapeutics Dec 2023
Topics: Humans; COVID-19; COVID-19 Vaccines; Hemolysis; Spherocytosis, Hereditary; mRNA Vaccines
PubMed: 37992397
DOI: 10.1080/21645515.2023.2286117 -
Cureus Mar 2024This case report presents a rare and intriguing clinical scenario involving a 63-year-old male with recurrent left-sided hydroureteronephrosis, hypertension, and...
This case report presents a rare and intriguing clinical scenario involving a 63-year-old male with recurrent left-sided hydroureteronephrosis, hypertension, and hyperlipidemia presenting with fatigue, dyspnea, and weight loss. Laboratory findings revealed anemia, basophilic stippling, spherocytosis, and nucleated red blood cells on the peripheral blood smear, raising concerns for hemolysis. Concomitant iron deficiency anemia led to further investigations, revealing gastritis and a colonic mass. A CT scan revealed splenomegaly with an accessory spleen. The histopathological evaluation identified splenic marginal zone lymphoma (MZL) - a diagnosis supported by flow cytometry. Simultaneously, the patient was found to have a moderately differentiated colorectal adenocarcinoma on colonoscopy. This unique case highlights a rare synchronous occurrence of invasive colonic adenocarcinoma with splenule MZL, an unprecedented finding in medical literature.
PubMed: 38590505
DOI: 10.7759/cureus.55843