Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. The disorder is Acute cases can threaten to cause hypoxia through anemia and acute kernicterus through high blood levels of bilirubin, particularly in newborns. Patients with severe cases may present as neonates, while those with mild HS may not come to medical attention until adulthood, when an. Neonates with undiagnosed hereditary spherocytosis (HS) are at risk for developing Full Text Available La esferocitosis hereditaria es la anemia hemolítica.
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A long-term follow-up study of subtotal splenectomy in children with hereditary spherocytosis. Hereditary spherocytosis HS is a heterogeneous hemolytic anemia treated with splenectomy in patients suffering from severe or moderate disease.
Total splenectomy, however, renders patients vulnerable to overwhelming postsplenectomy infection despite preventive measures. Consequences of delayed diagnosis. Directory of Open Access Journals Sweden. Full Text Available Objective: To determine whether patients with undiagnosed hereditary neonahal hospitalized for transfusions might have avoided hospitalization via earlier diagnosis.
Esferocitosis hereditaria neonatal: revisión casuística
Family and transfusion history and presence of neonatal jaundice were recorded. Complete blood count and reticulocyte values during infancy were available for 20 of 30 patients, while baseline steady-state values were available for all Transfusions were dsferocitosis to 22 patients; 12 of 14 with an aplastic crisis were undiagnosed.
In 10 of 12, the severity of anemia led to hospitalization 3 to intensive care. Undiagnosed hereditary spherocytosis may lead to inpatient transfusions for severe anemia. Earlier detection of hereditary spherocytosis is easily achievable and may reduce hospitalizations via closer monitoring.
Current problems neonnatal haematology. Hereditary spherocytosis is a relatively common haematological disorder and will be encountered by all haematologists.
The abundance of new information, dealing principally with molecular and genetic aspects of pathophysiology, is beginning to have implications for its investigation and management. While these esferocirosis have not yet exerted a esferocifosis influence at therapeutic level, the promise of such advents as prenatal diagnosis make this an exciting field to watch. Evaluating eosinmaleimide binding as a diagnostic test for hereditary spherocytosis in newborn infants.
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Neonates with undiagnosed hereditary spherocytosis HS are at risk for developing hazardous hyperbilirubinemia and anemia. Making an early diagnosis of HS in a neonate can prompt anticipatory guidance to prevent these adverse outcomes. A recent comparison study showed that a relatively new diagnostic test for HSeosinmaleimide EMA -flow cytometry, performs better than other available tests in confirming HS.
However, reports have not specifically examined the performance of this test among neonates. We compared EMA-flow cytometry from blood samples of healthy control neonates vs samples from neonates suspected of having HS on the basis of severe Coombs-negative jaundice and spherocytes on blood film.
The diagnosis of HS was later either confirmed or excluded based on clinical findings and next generation sequencing NGS after which we correlated the EMA-flow results with the diagnosis. EMA-flow was performed on enonatal blood of 31 neonates; 20 healthy term newborns and 11 who were suspected of having HS. Eight of the 11 were later confirmed positive for HS and one was confirmed positive for hereditary elliptocytosis HE.
All nine had persistently abnormal erythroid morphology, reticulocytosis and anemia, and eight of the nine had relevant mutations discovered using NGS.
The other was confirmed positive for HS on the basis that a parent had HSand the neonate’s spherocytosisreticulocytosis and anemia persisted. The 20 healthy controls and the 2 in whom HS was initially suspected but later excluded all had EMA-flow results in the range reported in healthy children and adults.
Newborn infants who have hereditary spherocytosis HS can develop anemia and hyperbilirubinemia. Bilirubin-induced neurologic dysfunction is less likely nwonatal 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 glucosephosphate 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 esferocitodis to review the neonatal presentation of HS and to provide practical and up-to-date means of diagnosing and treating HS in neonates. Full Text Available Human parvovirus HPV B19 induced aplastic crisis in nsonatal family leading to the diagnosis of hereditary spherocytosis HS is a very rare condition being barely reported in the literature.
We herein report a 4-year-old girl, her brother, and their mother who all presented with progressive pallor and jaundice after neonnatal febrile illness. They were further diagnosed with having HS. The clinical importance of this report is that in the case of an abrupt onset of unexplained neonata anemia and jaundice, one should consider underlying hemolytic anemias mostly hereditary spherocytosis complicated by HPV B19 aplastic crisis.
Herein, we report the occurrence of this condition, simultaneously in three members of a family. The distinguished feature of this report is that all affected family members developed some degrees of transient pancytopenia, not only anemia, all simultaneously in the course of their disease.
Intrathoracic extramedullary hematopoiesis EMH is a rare condition of the hereditary spherocytosis. EMH neonatql regresses or disappears after treatment; such as splenectomy in the case of spherocytosis. We report a case of hereditary spherocytosis. It is presented with an unilateral paravertebral posterior mediastinal mass.
After splenectomy, it revealed shrinkage and fatty replacement on serial CT scans. Open-heart surgery using a centrifugal pump: Hereditary spherocytosis is a genetic, frequently familial hemolytic blood disease characterized esferociitosis varying degrees esferovitosis hemolytic anemia, splenomegaly, and jaundice. There are few reports on adult open-heart surgery for patients with hereditary spherocytosis.
We report a rare case of an adult open-heart surgery associated with hereditary spherocytosis. A year-old man was admitted for congestive heart failure due to bicuspid aortic valve, aortic valve regurgitation, and sinus of subaortic aneurysm.
The family history, the microscopic findings of the blood smear, and the characteristic osmotic fragility confirmed the diagnosis of hereditary spherocytosis. Furthermore, splenectomy had not been undertaken preoperatively. The patient underwent a successful operation by means of a centrifugal pump. Haptoglobin was used during the esfeorcitosis bypass, and a biological valve was selected to prevent hemolysis. No significant hemolysis occurred intraoperatively or postoperatively.
There are no previous reports of patients with hereditary spherocytosisand bicuspid aortic valve. We have successfully performed esferocotosis adult open-heart surgery using a centrifugal pump in an adult patient suffering from hereditary spherocytosis and bicuspid esferocitisis valve. Laparoscopic splenectomy for hereditary spherocytosis -preliminary report. Splenectomy is considered standard surgical therapy in hereditary spherocytosis. The procedure is indicated in patients with severe anemia, recurrent hemolytic, and aplastic crises.
The aim of the study was to assess treatment outcomes in patients with hereditary spherocytosis who underwent total or partial laparoscopic splenectomy.
Fifteen patients aged esfercitosis underwent laparoscopic splenectomy from to Partial and total splenectomies were performed five and 10 children, respectively. Hematologic parameters, liver function tests, and splenic volume before esferoctosis after the surgery were analyzed retrospectively. Total follow-up was months. Hospitalization and operating time were neonatap in both groups.
In partial splenectomy group, branches of splenic arteries gave better blood supply than short gastric vessels. In both groups, hematologic parameters were improved. Postoperative markedly elevated platelet count was maintained up to 6 months, and after that, platelet count gradually decreased to normal values.
Bilirubin level was decreased in early postoperative period; however, it increased later esferocitosix achieve levels lower than in preoperative period. No severe general infections were observed in both groups. Laboratory parameters hemoglobin and bilirubin concentrations and RBC after the surgery improved in all patients, and the effect was maintained during 12 months of follow-up.
Platelet count increased significantly after the surgery and was maintained at high levels during the next 6 months. However, it returned to preoperative levels within a year after the surgery. Our study showed that partial splenectomy was not inferior to total splenectomy. However, full assessment requires longer follow-up and larger group of patients.
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Laparoscopic partial vs total splenectomy esferocittosis children with hereditary spherocytosis. Open partial splenectomy provides reversal of anemia and relief of symptomatic splenomegaly while theoretically retaining splenic immune function for hereditary spherocytosis.
We recently developed a laparoscopic approach for partial splenectomy. The purpose of the present study is to compare the outcomes in a group of patients undergoing exferocitosis partial splenectomy LPS with those in a group of children undergoing laparoscopic total splenectomy LTS over the same period.
T tests were used for continuous data, and chi 2 for proportional data; P value of less than. There were 9 patients 14 males in each group.
Groups were similar in sex, age, concomitant cholecystectomy, and preoperative hospitalizations, transfusions, and spleen size. Complication rate was similar between groups. The LPS group had higher morphine use 4. Nuclear scan 6 to 8 weeks postoperatively demonstrated residual perfused splenic tissue in all LPS patients.
No completion splenectomy was necessary after a mean follow-up of 25 months. However, LPS is associated with more pain, longer time to oral intake, and longer hospital stay. These disadvantages may be balanced by retained splenic immune function, but further studies are required to assess long-term splenic function in these patients.
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To investigate the sensitivity and specificity nronatal eosin-5′-maleimide EMA assay for the diagnosis of hereditary spherocytosis HSand to verify the stability of reagent and samples. EMA flow cytometry test, NaCl-osmotic fragility test and acidified glycerol lysis test were performed using peripheral blood samples from 80 patients with HS and 44 patients with other blood diseases, the sensitivity and specificity of the three methods were compared, and the feasibility esferocitosiw EMA binding test was estimated.
Among the tested samples, the sensitivity and specificity of EMA binding test was 0.
Although the sensitivity of NaCl-osmotic fragility test and acidified glycerol lysis test was a little higher than that of EMA binding test, the specificity of the former two methods was poor, they couldn’t clearly distinguish whether spherocytosis is hereditary spherocytosis. EMA binding test by flow cytometry showed good sensitivity and specificity for HS diagnosis.
Hereditary spherocytosis and elliptocytosis associated with prosthetic heart valve replacement: The implantation of a prosthetic heart valve HVP in patients with hereditary spherocytosis HS and hereditary elliptocytosis HE is rare, and the changes in the structure and deformability of erythrocytes that follow implantation in these patients have been poorly described. In the present study, the erythrocytes in HS and HE patients with mechanical HVP were compared to the erythrocytes in patients with only congenital membrane defects, in terms of biochemical modifications and rheological behaviour.