-
Indian Pediatrics Feb 2014To describe profile of 82 children with hereditary spherocytosis diagnosed over a period of 27 years (1985-2011) from a single center.
OBJECTIVE
To describe profile of 82 children with hereditary spherocytosis diagnosed over a period of 27 years (1985-2011) from a single center.
METHODS
Retrospective analyses of case records.
RESULTS
The mean (SD) age at diagnosis was 6.7 (2.8) years; 7 (8.5%) were diagnosed in infancy. Pallor (100%), icterus (67%), undocumented fever (28%), splenomegaly (96%) and hepatomegaly (73%) were the most frequent findings. Cholelithiasis was observed in 26%. Twenty-six (32%) underwent splenectomy and were followed for a median duration of 4.5 years. Two (7.7%) children developed post-splenectomy sepsis.
CONCLUSION
Anemia, hepato-splenomegaly and jaundice are commonest clinical features of hereditary spherocytosis. Post-splenectomy sepsis is uncommon.
Topics: Adolescent; Ankyrins; Child; Child, Preschool; Female; Humans; India; Infant; Male; Postoperative Complications; Retrospective Studies; Spherocytosis, Hereditary; Splenectomy; Treatment Outcome
PubMed: 24632695
DOI: 10.1007/s13312-014-0348-5 -
BMJ Case Reports Jul 2015A 16-year-old male patient with known hereditary spherocytosis presented with a 4-day history of chest pain and lethargy. On admission, he had a low-grade fever and was... (Review)
Review
A 16-year-old male patient with known hereditary spherocytosis presented with a 4-day history of chest pain and lethargy. On admission, he had a low-grade fever and was grossly anaemic; examination revealed splenomegaly. An ultrasound scan confirmed splenomegaly with areas of splenic infarction. Subsequent tests suggested possible Epstein-Barr virus infection. The patient recovered well and had a functional spleen on discharge. This case report presents an unusual complication of isolated hereditary spherocytosis.
Topics: Adolescent; Humans; Male; Spherocytosis, Hereditary; Splenic Infarction; Splenomegaly; Treatment Outcome; Ultrasonography
PubMed: 26139647
DOI: 10.1136/bcr-2014-206196 -
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 -
Updates in Surgery Dec 2021The laparoscopic splenectomy in pediatric patients is performed worldwide but often the disproportion between size of patients and size of organs requires an extra...
The laparoscopic splenectomy in pediatric patients is performed worldwide but often the disproportion between size of patients and size of organs requires an extra laparotomic access for spleen removal. The aim of the present study was to evaluate the safety and effectiveness of the Alexis system to retrieve the spleen without additional laparotomic access. The charts of all patients who underwent splenectomy at our center during the last 5 years were retrieved. In all the cases the Alexis system was placed in the umbilicus, thru which a 10 mm camera was inserted. Three additional 5 mm standard trocars were inserted. Seven patients, affected by spherocytosis (3), epidermoid cyst (2), idiopathic thrombocytopenic purpura (2) and thalassemia (1), underwent laparoscopic splenectomy at a median age of 10 years (range: 8-17). Median patients' weight was 32.5 kg (range: 25-71) and spleen size 15 cm (11-18). In all the cases, upon removal of the camera, the retrieval bag was inserted thru the umbilicus under direct view, the spleen retrieved, morcellated, and removed. No conversion nor enlargement of one of the ports nor an extra laparotomic access were required. The patients were discharged on the fifth post-operative day and the cosmetic results were excellent. Removal of the spleen can be safely performed without any additional laparotomy thru the Alexis system placed in the umbilicus. This system is effective also in case of major patient/organ size disproportion and the final cosmetic aspect is excellent.
Topics: Adolescent; Child; Humans; Laparoscopy; Purpura, Thrombocytopenic, Idiopathic; Spherocytosis, Hereditary; Spleen; Splenectomy
PubMed: 33877588
DOI: 10.1007/s13304-021-01023-5 -
BMC Research Notes Mar 2014Although there are several case reports of human parvovirus B19 infection in patients with hereditary spherocytosis, no systematic reviews of adult patients with... (Review)
Review
BACKGROUND
Although there are several case reports of human parvovirus B19 infection in patients with hereditary spherocytosis, no systematic reviews of adult patients with hereditary spherocytosis with human parvovirus B19 infection have been published as clinical case reports. In this study, we report a case of aplastic crisis due to human parvovirus B19 infection in an adult patient with hereditary spherocytosis.
CASE PRESENTATION
A 33-year-old woman with hereditary spherocytosis and gallstones was admitted because of rapid progress in marked anemia and fever. Although empiric antibiotic therapy was prescribed, her clinical symptoms and liver function test worsened. Because the anti-human parvovirus B19 antibody and deoxyribonucleic acid levels assessed by polymerase chain reaction were positive, the patient was diagnosed with aplastic crisis due to the human parvovirus B19 infection.
CONCLUSION
We collected and reviewed several case reports of patients with hereditary spherocytosis aged > 18 years with human parvovirus B19 infection between 1984 and 2010. A total of 19 reports with 22 cases [median age, 28 years (range, 18-43 range); male: female ratio, 6:16], including the present case were identified. The male-to-female ratio of 6:16 implied that younger females were predominantly affected. Although fever and abdominal symptoms were common initial symptoms, liver dysfunction or skin eruptions were less commonly documented. Anti-human parvovirus B19 antibody or deoxyribonucleic acid levels assessed by polymerase chain reaction was commonly used to diagnose human parvovirus B19 infection and may be useful to distinguish human parvovirus B19 infection from other abdominal infection in patients with hereditary spherocytosis.
Topics: Adolescent; Adult; Anemia, Aplastic; Ankyrins; Antibodies, Viral; DNA, Viral; Female; Host-Pathogen Interactions; Humans; Male; Parvoviridae Infections; Parvovirus B19, Human; Polymerase Chain Reaction; Spherocytosis, Hereditary; Young Adult
PubMed: 24618088
DOI: 10.1186/1756-0500-7-137 -
BMC Medical Genomics Jun 2022The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes.
BACKGROUND
The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes.
CASE PRESENTATION
This case study describes a 4-month-old child with growth and psychomotor retardation, auricle deformity, microcephaly, polydactyly, a heart abnormality, and feeding difficulties. An approximately 12.00 MB deletion was detected in the 8p11.22-p21.2 region of chromosome 8. After sequencing, we found that 65 protein genes had been deleted, including FGFR1, which resulted in Kallmann syndrome. There was no deletion of the ANK1 gene associated with spherocytosis, consistent with the phenotype.
CONCLUSION
This patient is a new case of short arm deletion of chromosome 8, resulting in novel and previously unreported clinical features.
Topics: Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 22; Humans; Kallmann Syndrome; Spherocytosis, Hereditary
PubMed: 35668409
DOI: 10.1186/s12920-022-01274-0 -
Blood Transfusion = Trasfusione Del... Jul 2011
Review
Topics: Elliptocytosis, Hereditary; Erythrocyte Membrane; Erythrocytes, Abnormal; Humans; Spherocytosis, Hereditary
PubMed: 21251470
DOI: 10.2450/2011.0086-10 -
Iranian Biomedical Journal Sep 2021Hereditary spherocytosis (HS) and hereditary hereditary distal renal tubular acidosis (dRTA) are associated with mutations in the SLC4A1 gene encoding the anion...
BACKGROUND
Hereditary spherocytosis (HS) and hereditary hereditary distal renal tubular acidosis (dRTA) are associated with mutations in the SLC4A1 gene encoding the anion exchanger 1. In this study, some patients with clinical evidence of congenital HS and renal symptoms were investigated.
METHODS
Twelve patients with congenital HS and renal symptoms were recruited from Ali-Asghar Children’s Hospital (Tehran, Iran). A patient suspected of having dRTA was examined using whole exome sequencing method, followed by Sanger sequencing.
RESULTS
One patient (HS03) showed severe failure to thrive, short stature, frequent urinary infection, and weakness. A homozygote (rs571376371 for c.2494C>T; p.Arg832Cys) and a heterozygote (rs377051298 for c.466C>T; p.Arg156Trp) missense variant were identified in the SLC4A1 and SPTA1 genes, respectively. The compound heterozygous mutations manifested as idRTA and severe HS in patient HS03.
CONCLUSION
Our observations, for the first time, revealed clinical and genetic characteristics of idRTA and severe HS in an Iranian patient HS03.
Topics: Acidosis, Renal Tubular; Adolescent; Adult; Ankyrins; Base Sequence; Child; Child, Preschool; Erythrocytes; Female; Follow-Up Studies; Humans; Iran; Kidney Tubules, Distal; Male; Mutation; Pedigree; Spherocytosis, Hereditary
PubMed: 34481427
DOI: 10.52547/ibj.25.5.359 -
BMC Surgery Apr 2022Hereditary spherocytosis (HS) complicated by splenic infarction is very rare, and it is even rarer to develop splenic infarction after infectious mononucleosis (IM) as a... (Review)
Review
BACKGROUND
Hereditary spherocytosis (HS) complicated by splenic infarction is very rare, and it is even rarer to develop splenic infarction after infectious mononucleosis (IM) as a result of Epstein-Barr virus (EBV) infection. Therefore, misdiagnosis or missed diagnosis is prone to occur.
CASE PRESENTATION
A 19-year-old Chinese female previously diagnosed with HS was admitted to our institution with persistent high fever and icterus. On admission, the physical examination showed anemia, jaundice, marked splenomegaly, obvious tenderness in the left upper abdomen (LUA). Peripheral blood film shows that spherical red blood cells accounted for about 6%, and Immunoglobulin M (IgM) antibodies specific to Epstein-Barr virus (EBV) viral capsid antigen were detected. An abdominal CT scan revealed a splenic infarction. The patient was diagnosed with HS with splenic infarction following EBV infection and underwent an emergency laparoscopic splenectomy (LS). Pathological analysis showed a splenic infarction with red pulp expansion, white pulp atrophy and a splenic sinus filled with red blood cells. After two months of follow-up visits, the patient showed no signs of relapse.
CONCLUSIONS
HS complicated by splenic infarction is very rare and mostly occurs in men under 20 years of age and is often accompanied by other diseases, such as sickle cell traits (SCT) or IM. Although symptomatic management may be sufficient, emergency laparoscopic splenectomy may be safe and effective when conservative treatment is ineffective.
Topics: Adult; Epstein-Barr Virus Infections; Female; Herpesvirus 4, Human; Humans; Infectious Mononucleosis; Male; Spherocytosis, Hereditary; Splenic Infarction; Young Adult
PubMed: 35397569
DOI: 10.1186/s12893-022-01580-5 -
Haematologica Sep 2008Hereditary spherocytosis is a very heterogeneous form of hemolytic anemia. The aim of this study was to relate the type of molecular defect with clinical and hematologic...
BACKGROUND
Hereditary spherocytosis is a very heterogeneous form of hemolytic anemia. The aim of this study was to relate the type of molecular defect with clinical and hematologic features and response to splenectomy using information from a large database of patients.
DESIGN AND METHODS
Data from 300 consecutive patients with hereditary spherocytosis, grouped according to the results of sodium dodecyl sulphate-polyacrylamide gel electrophoresis, were analyzed and the sensitivity of red cell osmotic fragility tests was compared in various subsets of patients.
RESULTS
Band 3 and spectrin deficiencies were the most common protein abnormalities (54% and 31%, respectively); 11% of cases were not classified by the electrophoretic analysis. Spectrin deficiency was more frequently diagnosed in childhood and band 3 deficiency in adulthood. Hemoglobin concentration was slightly lower, spherocyte number and hemolysis markers higher in spectrin deficiency than in band 3 deficiency. The sensitivity of the osmotic fragility tests ranged from 48% to 95%, and was independent of the type and amount of the membrane defect. The association of the acidified glycerol lysis test and the NaCl test on incubated blood reached a sensitivity of 99%. Splenectomy corrected the anemia in patients with all subtypes of hereditary spherocytosis although spectrin-deficient patients still showed increased reticulocyte numbers and levels of unconjugated bilirubin. Splenectomy allowed the identification of the membrane defect in all the previously unclassified patients, most of whom had spectrin and/or ankyrin deficiency.
CONCLUSIONS
The definition of the red cell membrane defect in hereditary spherocytosis has no major clinical implications, but may be useful for a differential diagnosis from other hematologic disorders that mimic this hemolytic anemia.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Female; Humans; Infant; Male; Membrane Proteins; Middle Aged; Spherocytosis, Hereditary; Splenectomy
PubMed: 18641031
DOI: 10.3324/haematol.12546