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Clinical Case Reports Jun 2024When a person has both HS and beta-thalassemia, their clinical symptoms tend to be less severe. This is because these two conditions have contrasting features. If the...
KEY CLINICAL MESSAGE
When a person has both HS and beta-thalassemia, their clinical symptoms tend to be less severe. This is because these two conditions have contrasting features. If the clinical symptoms and laboratory results cannot be solely attributed to hemolytic anemia, it is important to consider the possibility of another form of hemolytic anemia coexisting.
ABSTRACT
We present a 26-year-old woman who has been experiencing abdominal pain, jaundice, and anemia for the past 15 years. Initially, she was diagnosed with gallstones and splenomegaly, but after a thorough hematology examination conducted by expert colleagues, it was discovered that she had both beta-thalassemia and hereditary spherocytosis. The osmotic fragility test confirmed this diagnosis. The patient was advised to undergo both splenectomy and cholecystectomy procedures. It is worth noting that the co-occurrence of these two conditions is rare.
PubMed: 38868122
DOI: 10.1002/ccr3.9080 -
Perioperative Medicine (London, England) Jun 2024Due to the distinctive nature of cardiac surgery, patients suffering from hereditary spherocytosis (HS) are potentially at a high risk of perioperative complications... (Review)
Review
BACKGROUND
Due to the distinctive nature of cardiac surgery, patients suffering from hereditary spherocytosis (HS) are potentially at a high risk of perioperative complications resulting from hemolysis. Despite being the most prevalent cause of hereditary chronic hemolysis, the standards of surgical management are based solely on expert opinion.
OBJECTIVE
We analyze the risk of hemolysis in HS patients after cardiac surgery based on a systematic review of the literature. We also describe a case of a patient with hereditary spherocytosis who underwent aortic valve repair.
METHODS
This systematic review was registered in the PROSPERO international prospective register of systematic reviews (CRD42023417666) and included records from Embase, MEDLINE, Web of Science, and Google Scholar databases. The case study investigates a 38-year-old patient who underwent surgery for an aortic valve defect in mid-2022.
RESULTS
Of the 787 search results, 21 studies describing 23 cases of HS undergoing cardiac surgery were included in the final analysis. Hemolysis was diagnosed in five patients (one coronary artery bypass graft surgery, two aortic valve bioprosthesis, one ventricular septal defect closure, and one mitral valve plasty). None of the patients died in the perioperative period. Also, no significant clinical hemolysis was observed in our patient during the perioperative period.
CONCLUSIONS
The literature data show that hemolysis is not common in patients with HS undergoing various cardiac surgery techniques. The typical management of a patient with mild/moderate HS does not appear to increase the risk of significant clinical hemolysis. Commonly accepted beliefs about factors inducing hemolysis during cardiac surgery may not be fully justified and require further investigation.
PubMed: 38858770
DOI: 10.1186/s13741-024-00411-w -
Hemoglobin Jun 2024Congenital hemolytic anemia (CHA) is defined as the premature destruction of red blood cells (RBC) due to congenital or acquired defects. The hereditary form of...
Congenital hemolytic anemia (CHA) is defined as the premature destruction of red blood cells (RBC) due to congenital or acquired defects. The hereditary form of hemolytic anemia can be divided into hemoglobinopathies, membranopathies, and enzymopathies. Hereditary spherocytosis (HS) is the most common inherited RBC membranopathy leading to congenital hemolytic anemia. To date; five genes have been associated with HS coding for cytoskeleton and transmembrane proteins, those genes are and . Due to genetic heterogeneity, clinical exome sequencing (CES) was performed on four unrelated Moroccan patients referred for CHA investigation. Sanger sequencing and qPCR were performed to confirm CES results and to study the de novo character of identified variants. The molecular analysis revealed 3 novel mutations and one previously reported pathogenic variant of the gene confirming the diagnosis of HS in the four patients. Hereditary spherocytosis anemia is a genetically heterogenous disease which could be misdiagnosed clinically. The introduction of novel sequencing technologies can facilitate accurate genetic diagnosis, allowing an adapted care of the patient and his family.
PubMed: 38831725
DOI: 10.1080/03630269.2024.2360456 -
Asian Journal of Surgery May 2024
PubMed: 38816272
DOI: 10.1016/j.asjsur.2024.05.089 -
Molecular Genetics and Genomics : MGG May 2024Hereditary spherocytosis (HS) is one of the most common causes of hereditary hemolytic anemia. The current diagnostic guidelines for HS are mainly based on a combination...
Hereditary spherocytosis (HS) is one of the most common causes of hereditary hemolytic anemia. The current diagnostic guidelines for HS are mainly based on a combination of physical examination and laboratory investigation. However, some patients present with complicated clinical manifestations that cannot be explained by routine diagnostic protocols. Here, we report a rare HS case of mild anemia with extremely high indirect bilirubin levels and high expression of fetal hemoglobin. Using whole exome sequencing analysis, this patient was identified as a heterozygous carrier of a de novo SPTB nonsense mutation (c.605G > A; p.W202*) and a compound heterozygous carrier of known UGT1A1 and KLF1 mutations. This genetic analysis based on the interpretation of the patient's genomic data not only achieved precise diagnosis by an excellent explanation of the complicated phenotype but also provided valuable suggestions for subsequent appropriate approaches for treatment, surveillance and prophylaxis.
Topics: Humans; Spherocytosis, Hereditary; Phenotype; Kruppel-Like Transcription Factors; Spectrin; Glucuronosyltransferase; Exome Sequencing; Codon, Nonsense; Male; Heterozygote; Female
PubMed: 38787432
DOI: 10.1007/s00438-024-02150-5 -
Journal of the American Veterinary... May 2024To describe the presentation, diagnosis, and treatment of 4 cases of splenic torsion with associated spherocytosis.
OBJECTIVE
To describe the presentation, diagnosis, and treatment of 4 cases of splenic torsion with associated spherocytosis.
ANIMALS
4 client-owned dogs with spherocytosis and splenic torsion.
CLINICAL PRESENTATION
Each dog presented with nonspecific clinical signs, and 3 out of 4 dogs were anemic on presentation.
RESULTS
The diagnosis of splenic torsion was made with abdominal ultrasound or CT and confirmed during exploratory laparotomy. Spherocytosis was described as occasional (patient 1), rare (patient 2), and low number (patients 3 and 4). Two dogs survived to hospital discharge, and 2 dogs died following cardiorespiratory arrest.
CLINICAL RELEVANCE
Spherocytosis has not previously been reported in cases of splenic torsion, and identification of spherocytes on blood film evaluation warrants further investigation. The cause of spherocytosis in splenic torsion remains unknown but may be associated with microangiopathic fragmentation injury.
PubMed: 38776970
DOI: 10.2460/javma.24.03.0148 -
American Journal of Hematology May 2024While sickle cell anemia (SCA) and hereditary spherocytosis (HS) share common features of increased spleen erythrophagocytosis due to increased red blood cell (RBC)...
Comparative histological analysis of spleens in pediatric patients with hemolytic anemias: Insights into the pathophysiological mechanisms of spleen destruction in sickle cell anemia.
While sickle cell anemia (SCA) and hereditary spherocytosis (HS) share common features of increased spleen erythrophagocytosis due to increased red blood cell (RBC) turnover, SCA is specifically characterized by susceptibility to infections. In this study, histological lesions in the spleens of pediatric patients with SCA were analyzed, in close correlation with past clinical history and comparatively to HS, healthy and transfused β-thalassemia patients (TDT). An evaluation of red pulp elementary lesions (red pulp fibrosis, iron deposition, number of Gandy-Gamna, and RBC trapping) combined into a severity score was established, as well as B-cell follicles analysis. Quantification on digitalized slides of iron deposition, RBC trapping, and red pulp fibrosis was additionally performed. Spleens from 22 children with SCA, eight with HS, eight with TDT, and three healthy controls (HC) were analyzed. Median age at splenectomy was not different between SCA and HS patients, 6.05 years (range: 4.5-16.0) versus 4.75 (range: 2.2-9.5). Marked heterogeneity was found in SCA spleens in contrast to other conditions. Contrary to previous reports, B-cell follicles were generally preserved in SCA. While RBC trapping was significantly increased in both SCA and HS (compared to TDT and HC), quantitative fibrosis and overall red pulp severity score were significantly increased in SCA spleens compared to other conditions. Moreover, there was an inverse correlation between quantitative fibrosis and number of B-cell follicles, linking these two compartments as well as spleen fibrosis to infectious susceptibility in SCA, potentially through impaired red pulp macrophage scavenging and B-cell subpopulations defects.
PubMed: 38775210
DOI: 10.1002/ajh.27374 -
Psychiatric Genetics Jun 2024Intellectual disability is characterized by impairment in at least two of the following areas: social skills, communication skills, self-care tasks, and academic skills....
Intellectual disability is characterized by impairment in at least two of the following areas: social skills, communication skills, self-care tasks, and academic skills. These impairments are evaluated in relation to the expected standards based on the individual's age and cultural levels. Additionally, intellectual disability is typically defined by a measurable level of intellectual functioning, represented by an intelligence quotients core of 70 or below. Autism spectrum disorder is a developmental disability resulting from differences in the brain, often characterized by problems in social communication and interaction, and limited or repetitive behaviors or interests. Hereditary spherocytosis is a disease characterized by anemia, jaundice, and splenomegaly as a result of increased tendency to hemolysis with morphological transformation of erythrocytes from biconcave disc-shaped cells with central pallor to spherocytes lacking central pallor due to hereditary injury of cellular membrane proteins. An 11-year-old female patient was referred to Pediatric Genetics Subdivision due to the presence of growth retardation and a diagnosis of hereditary spherocytosis. Since she also had dysmorphic facial features, such as frontal bossing, broad and prominent forehead, tubular nasal structure, and thin vermillion, genetic tests were performed. Chromosomal microarray analysis revealed a 2.5 Mb deletion in the 14q23.2q23.3 region. Deletion was also identified in the same region in her father, who had the same phenotypic characteristics, including hereditary spherocytosis and learning difficulties. We propose that the PLEKHG3 and AKAP5 genes, which are located in this region, may contribute to the development of intellectual disability.
Topics: Humans; Intellectual Disability; Female; Child; Haploinsufficiency; Chromosome Deletion; A Kinase Anchor Proteins; Spherocytosis, Hereditary
PubMed: 38690958
DOI: 10.1097/YPG.0000000000000368 -
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 -
Frontiers in Pediatrics 2024
PubMed: 38633330
DOI: 10.3389/fped.2024.1403651