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British Journal of Haematology Aug 2004Hereditary spherocytosis (HS) is a heterogeneous group of disorders with regard to clinical severity, protein defects and mode of inheritance. It is relatively common in... (Review)
Review
Hereditary spherocytosis (HS) is a heterogeneous group of disorders with regard to clinical severity, protein defects and mode of inheritance. It is relatively common in Caucasian populations; most affected individuals have mild or only moderate haemolysis. There is usually a family history, and a typical clinical and laboratory picture so that the diagnosis is often easily made without additional laboratory tests. Atypical cases may require measurement of erythrocyte membrane proteins to clarify the nature of the membrane disorder and in the absence of a family history, occasionally molecular genetic analysis will help to determine whether inheritance is recessive or non-dominant. It is particularly important to rule out stomatocytosis where splenectomy is contraindicated because of the thrombotic risk. Mild HS can be managed without folate supplements and does not require splenectomy. Moderately and severely affected individuals are likely to benefit from splenectomy, which should be performed after the age of 6 years and with appropriate counselling about the infection risk. In all cases careful dialogue between doctor, patient and the family is essential. Laparoscopic surgery, when performed by experienced surgeons, can result in a shorter hospital stay and less pain.
Topics: Folic Acid; Humans; Mass Screening; Spherocytosis, Hereditary; Splenectomy
PubMed: 15287938
DOI: 10.1111/j.1365-2141.2004.05052.x -
Pediatrics Jun 2015Newborn infants who have hereditary spherocytosis (HS) can develop anemia and hyperbilirubinemia. Bilirubin-induced neurologic dysfunction is less likely in these... (Review)
Review
Newborn infants who have hereditary spherocytosis (HS) can develop anemia and hyperbilirubinemia. Bilirubin-induced neurologic dysfunction is less likely in these neonates if the diagnosis of HS is recognized and appropriate treatment provided. Among neonates listed in the USA Kernicterus Registry, HS was the third most common underlying hemolytic condition after glucose-6-phosphate dehydrogenase deficiency and ABO hemolytic disease. HS is the leading cause of direct antiglobulin test (direct Coombs) negative hemolytic anemia requiring erythrocyte transfusion in the first months of life. We anticipate that as physicians become more familiar with diagnosing HS in the newborn period, fewer neonates with HS will develop hazardous hyperbilirubinemia or present to emergency departments with unanticipated symptomatic anemia. We predict that early suspicion, prompt diagnosis and treatment, and anticipatory guidance will prevent adverse outcomes in neonates with HS. The purpose of this article was to review the neonatal presentation of HS and to provide practical and up-to-date means of diagnosing and treating HS in neonates.
Topics: Ankyrins; Decision Trees; Humans; Infant, Newborn; Pediatrics; Practice Guidelines as Topic; Spherocytosis, Hereditary
PubMed: 26009624
DOI: 10.1542/peds.2014-3516 -
The Turkish Journal of Pediatrics 2018Güngör A, Yaralı N, Fettah A, Ok-Bozkaya İ, Özbek N, Kara A. Hereditary spherocytosis: Retrospective evaluation of 65 children. Turk J Pediatr 2018; 60: 264-269....
Güngör A, Yaralı N, Fettah A, Ok-Bozkaya İ, Özbek N, Kara A. Hereditary spherocytosis: Retrospective evaluation of 65 children. Turk J Pediatr 2018; 60: 264-269. Hereditary spherocytosis (HS) is a common cause of congenital hemolytic anemia in Caucasians and it could be diagnosed at any age. The aim of this study is to examine the demographic characteristics, clinical features and laboratory findings of children with HS and their complications observed during follow up. Sixty-five patients, with hereditary spherocytosis between January 2008 and September 2013, were enrolled into this retrospective study. The age of patients at the time of diagnosis varied between 15 days and 17 years. The median age of patients at diagnosis was 48 months (IQR 2-78). The female/male ratio was 1.1. Forty-seven patients (72.3%) had a family history of HS. The patients were classified according to laboratory findings: 13 of them (20%) were diagnosed as mild HS, 36 (55.4%) as moderate HS and of 16 (24.6%) as severe HS. During follow-up, nine patients (13.8%) experienced an aplastic crisis. Megaloblastic crisis was not observed in any patient. Twenty patients (30.8%) had cholelithiasis. Splenectomy was performed in 20% of patients and the mean age for splenectomy was 8.3 years. Complications such as sepsis or thrombosis were not detected after splenectomy. Hereditary spherocytosis should be kept in mind in patients with anemia, jaundice and splenomegaly and the family history must be questioned. The most common complication was gallstone; even patients without severe hemolysis should be followed intermittently by abdominal ultrasonography in order to control the development of gallstone.
Topics: Adolescent; Blood Cell Count; Child; Child, Preschool; Erythrocyte Transfusion; Female; Humans; Infant; Infant, Newborn; Male; Retrospective Studies; Spherocytosis, Hereditary; Splenectomy; Ultrasonography
PubMed: 30511538
DOI: 10.24953/turkjped.2018.03.005 -
Acta Medica Portuguesa Jun 2023Even though it is a rare condition, hereditary spherocytosis (EH) is the main inherited cause of haemolytic anaemia and presents with a broad spectrum of symptoms. In...
Even though it is a rare condition, hereditary spherocytosis (EH) is the main inherited cause of haemolytic anaemia and presents with a broad spectrum of symptoms. In the few reported cases of pregnancy and EH, maternal and foetal outcomes are controversial. Particularly, reports of pregnancies with EH associated with thrombosis or portal hypertension are scarce. We present a case of a woman who underwent splenectomy with EH and non-cirrhotic portal hypertension. Our patient presented polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) and plasminogen activator inhibit-1 that have a controversial impact on thrombotic risk. During pregnancy, the woman showed no signs of haemodynamical or cirrhosis deterioration. Concerning the foetus, late-onset foetal growth restriction was diagnosed but did not determine preterm delivery. Five weeks post-partum after an episode of acute abdominal pain, mesenteric venous thrombosis was diagnosed. In this case report, we describe our experience in managing pregnancy, labour and post-partum of a woman with EH, highlighting potential complications of this condition.
Topics: Pregnancy; Female; Infant, Newborn; Humans; Spherocytosis, Hereditary; Hypertension, Portal; Splenectomy; Premature Birth
PubMed: 36753998
DOI: 10.20344/amp.18871 -
The Kaohsiung Journal of Medical... Jul 2020Hereditary spherocytosis (HS) is often misdiagnosed due to lack of specific diagnostic methods. Our study summarized clinical characteristics and described the...
Hereditary spherocytosis (HS) is often misdiagnosed due to lack of specific diagnostic methods. Our study summarized clinical characteristics and described the diagnostic workflow for mild and moderate HS in Chinese individuals, using data from 20 adults, 8 of whom presented a familial history for HS. We used scanning electron microscopy (SEM) to diagnose HS. We observed reduced eosin maleimide fluorescence activity (5.50 mean channel fluorescence (MCF) units) in the 10 cases of HS, which differed significantly when compared with 10 normal adults (15.50 units), iron deficiency anemia (15.50 MCF units), and megaloblastic anemia (12.00 MCF units) values (P < .05). Next generation sequencing results revealed that 9 out of 10 patients were found to have mutations in the spectrin alpha chain (SPTB), anchor protein (ANK1), and SLC4A1 genes. These mutations were not reported in the Human Gene Mutation Database (HGMD), 1000 human genome, ExAC, and dbSNP147 databases. Splenectomy proved to be beneficial in alleviating HS symptoms in 10 cases. It was found that for the diagnosis of HS, SEM and next generation gene sequencing method proved to be more ideal than red blood cell membrane protein analysis using sodium dodecyl sulfate polyacrylamide gel electrophoresis and western blotting.
Topics: Adolescent; Adult; Aged; Anemia, Iron-Deficiency; Anemia, Megaloblastic; Anion Exchange Protein 1, Erythrocyte; Ankyrins; Asian People; Biomarkers; Case-Control Studies; Diagnosis, Differential; Eosine Yellowish-(YS); Female; Fluorescent Dyes; Gene Expression; High-Throughput Nucleotide Sequencing; Humans; Male; Microscopy, Electron, Scanning; Middle Aged; Mutation; Spectrin; Spherocytosis, Hereditary; Splenectomy
PubMed: 32133777
DOI: 10.1002/kjm2.12198 -
Journal of Clinical Laboratory Analysis May 2019There is currently no single index for the diagnostic screening of hereditary spherocytosis (HS). However, hematology analyzers are widely used in hospital laboratories...
BACKGROUND
There is currently no single index for the diagnostic screening of hereditary spherocytosis (HS). However, hematology analyzers are widely used in hospital laboratories because of their highly automated performance and quality control procedure, and detection of some blood cell parameters may be useful for the early screening of HS.
METHODS
We investigated the values of blood cell parameters for the screening and differential diagnosis of HS. We performed a descriptive study of 482 samples (67 cases of HS, 59 cases of G6PD deficiency, 57 cases of AIHA, 199 cases of thalassemia, and 100 cases of healthy controls) that were run on Beckman Coulter LH780 Hematology Analyzer.
RESULTS
HS was characterized by increased MCHC, decreased MRV, MSCV-MCV < 0, and increased Ret with no concomitant increase in IRF. The areas under the ROC curves were MSCV-MCV (0.97; 95% CI 0.95-1.0) > MRV (0.94; 95% CI 0.91-0.97) > MCHC (0.92; 95% CI 0.88-0.97) > Ret/IRF (0.77; 95% CI 0.7-0.84). MSCV-MCV ≤ 0.6 fl was valuable parameter for the diagnostic screening of HS, with a sensitivity of 95.5% and specificity of 94.9%.
CONCLUSION
These indices have high reference values for differentiating HS from thalassemia, AIHA, and G6PD deficiency.
Topics: Adolescent; Adult; Anemia, Hemolytic, Autoimmune; Case-Control Studies; Erythrocyte Indices; Female; Humans; Male; ROC Curve; Reticulocytes; Sensitivity and Specificity; Spherocytosis, Hereditary; Thalassemia
PubMed: 30945356
DOI: 10.1002/jcla.22844 -
Frontiers in Medicine 2022The clinical manifestations of hereditary spherocytosis are similar to those of various hemolytic anemias, which causes hereditary spherocytosis to be difficult to...
The clinical manifestations of hereditary spherocytosis are similar to those of various hemolytic anemias, which causes hereditary spherocytosis to be difficult to diagnose clinically. In this case, we obtained the peripheral blood of a patient and family members, and through a whole exome test of the 6,297 genetic phenotypes confirmed by OMIM, we found a heterozygous nonsense mutation (c.4117C>T, P.Q1373X) in the SPTB gene. Combined with the patient's clinical data, the diagnosis was hereditary spherocytosis. Compared with the public population sequence database, the mutation was found to be unique. Through protein structure prediction analysis and literature studies, we found that the mutation may cause SPTB mRNA instability, resulting in insufficient spectrin protein synthesis and affecting the integrity and flexibility of the red blood cell membrane skeleton. This case report found that SPTB gene mutations may cause liver dysfunction and cirrhosis in addition to hereditary spherocytosis, and this finding expands the phenotypic spectrum of SPTB. This study confirmed that NGS can be used to diagnose hereditary spherocytosis. Identifying mutated genes can not only accurately treat diseases, but also avoid potential genetic risks and improve prenatal and postnatal care.
PubMed: 35223921
DOI: 10.3389/fmed.2022.823724 -
Archivos Argentinos de Pediatria Apr 2015Hereditary spherocytosis must always be suspected in children with anemia, hyperbilirubinemia, splenomegaly or cholelithiasis, in the asymptomatic individual with an... (Review)
Review
Hereditary spherocytosis must always be suspected in children with anemia, hyperbilirubinemia, splenomegaly or cholelithiasis, in the asymptomatic individual with an affected relative, and in the neonate with hyperbilirubinemia with no blood group incompatibility; its early detection is key to avoid kernicterus. Follow-up of these patients is based on periodical control and supply of information on the adequate management of hemolytic or aplastic crisis, and early detection of cholelithiasis. The decision to perform splenectomy is usually associated with quality of life rather than life-threatening risk, and it should result from a consensus between patient, parents and physicians. The postsplenectomy follow-up is based on control of compliance with the prophylactic antibiotic therapy and the early diagnosis of infectious disorders.
Topics: Adolescent; Child; Child, Preschool; Humans; Spherocytosis, Hereditary; Splenectomy; Treatment Outcome
PubMed: 25727830
DOI: 10.5546/aap.2015.168 -
British Journal of Haematology Jun 2009Splenectomy is indicated in hereditary spherocytosis to relieve symptoms due to anaemia or splenomegaly, reverse growth failure or skeletal changes due to over-robust... (Review)
Review
Splenectomy is indicated in hereditary spherocytosis to relieve symptoms due to anaemia or splenomegaly, reverse growth failure or skeletal changes due to over-robust erythropoiesis, and prevent recurrent gallstones. A life-long risk of bacterial infection has been recognised for many years as a concomitant cost of splenectomy. The scope of this risk has expanded to include a number of organisms beyond the triad of pneumococcus, meningococcus, and haemophilus influenzae. Recently, it has been demonstrated that splenectomy also confers a significant risk of delayed adverse vascular events in patients with hereditary spherocytosis, just as it does in patients undergoing splenectomy for other indications. Further, these same studies demonstrated a benefit of avoiding splenectomy: hereditary spherocytosis patients with a spleen have significantly fewer adverse vascular events than unaffected family members, probably because of the protective effect of chronic, mild anaemia. Accordingly, this review marshals the evidence favouring a conservative approach to splenectomy in spherocytosis.
Topics: Adult; Bacterial Infections; Child; Humans; Myocardial Infarction; Patient Selection; Risk; Spherocytosis, Hereditary; Splenectomy; Treatment Outcome
PubMed: 19388926
DOI: 10.1111/j.1365-2141.2009.07694.x -
Archivos Argentinos de Pediatria Jan 2015Hereditary spherocytosis is the most frequent hereditary anemia excluding beta thalassemia in Argentina. Historical, demographic, genetic and pathogenic aspects of the... (Review)
Review
Hereditary spherocytosis is the most frequent hereditary anemia excluding beta thalassemia in Argentina. Historical, demographic, genetic and pathogenic aspects of the disease are reviewed, and confirmatory laboratory tests are described. Special characteristics on the outcome of the disease in our population and prevalent protein deficiencies in our country are described. Emphasis is given on new available laboratory tests, which allow an earlier diagnosis using volume of blood samples significantly smaller than required for conventional tests.
Topics: Demography; History, 19th Century; History, 20th Century; Humans; Spherocytosis, Hereditary
PubMed: 25622164
DOI: 10.5546/aap.2015.69