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Journal of Clinical Pathology Nov 1961A sibship with four cases of hereditary elliptocytic anaemia is described. The condition in this family may have arisen as a mutation in the mother of the sibship;...
A sibship with four cases of hereditary elliptocytic anaemia is described. The condition in this family may have arisen as a mutation in the mother of the sibship; affected members were unable to taste phenylthiocarbamide while normal members were tasters. Experiments with (32)P-orthophosphate in vitro did not show any evidence of biochemical upset as found in hereditary spherocytosis; thus a combination of congenital spherocytosis and elliptocytosis cannot be supported as the cause of the haemolytic state. Clinical evidence of haemolytic disease was accompanied by a tendency to excessive lysis in vitro. Infection may play a part in the precipitation of anaemic crises in this as in other hereditary haemolytic anaemias.
Topics: Anemia; Anemia, Hemolytic; Ankyrins; Humans; Mothers; Mutation; Spherocytosis, Hereditary
PubMed: 13883803
DOI: 10.1136/jcp.14.6.615 -
Journal of Clinical Laboratory Analysis Mar 2022Hereditary spherocytosis (HS) is characterized by decreased erythrocyte deformability resulting in hemolytic anemia. This is a heterogeneous disease regarding underlying...
INTRODUCTION
Hereditary spherocytosis (HS) is characterized by decreased erythrocyte deformability resulting in hemolytic anemia. This is a heterogeneous disease regarding underlying protein deficiency, disease severity, age at diagnosis and clinical course. Although largely considered as pediatric disease, HS could be initially diagnosed also in elder patients as a result of gallstones or splenomegaly fortuitous finding. Concurrently, common adulthood metabolic disorders like diabetes or dyslipidemia are also known to impair RBC rheology and deformability. Therefore, we aimed to investigate if these diseases affect the screening and diagnostic tools used for HS diagnosis.
METHODS
We applied our workflow for HS diagnosis on 95 pathological samples: 29 patients with diabetes, 20 with hypercholesterolemia, 17 with dyslipidemia, 6 with hypertriglyceridemia, 23 with metabolic syndrome (MS). Thus, a total of 73 samples were analyzed by automated reticulocyte analysis, 52 by cryohemolysis test, and 41 by ektacytometry osmoscan analysis as we used two out of the three tests for each individual sample.
RESULTS
Applying our screening algorithm based on automated reticulocyte indices, a total of 4 samples (4.2%): one sample (5%) from the diabetes group and three samples (16.7%) from the MS group, positioned into the HS zone. However, no significant difference was found between any of the pathological groups and the controls for the cryohemolysis test or the osmoscan.
CONCLUSION
While diabetes and hypercholesterolemia are pathologic conditions known to present with decreased erythrocyte deformability and disturbed rheology, their possible concomitant presence with HS would not interfere with the screening and confirmatory laboratory methods.
Topics: Adult; Aged; Child; Diabetes Mellitus; Humans; Hypercholesterolemia; Reticulocytes; Spherocytosis, Hereditary
PubMed: 35080062
DOI: 10.1002/jcla.24248 -
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 -
Experimental Biology and Medicine... Jul 2019Vincristine, a vinca alkaloid, is widely used in many hematologic disorders and pediatric cancers, and acts by binding to the tubulin protein, to inhibit effective cell...
UNLABELLED
Vincristine, a vinca alkaloid, is widely used in many hematologic disorders and pediatric cancers, and acts by binding to the tubulin protein, to inhibit effective cell division. Vincristine-induced anemia has been observed, but its mechanism is not well understood. We describe a case involving serious vincristine-induced anemia in a patient with congenital spherocytosis and provide the explanation to the underlying mechanism. This report demonstrates that vincristine administration to patients with a red cell disorder may require additional clinical interventions to compensate for the vincristine-induced anemia.
IMPACT STATEMENT
Therapy with vincristine (VCR), a vinca alkaloid, is widely used in many hematologic disorders and pediatric cancers, and acts by binding to the tubulin protein, to inhibit effective cell division. Our paper indicates that treatment of patients with a red cell disorder may require additional clinical interventions to compensate for the VCR-induced anemia. Careful evaluation of other hematologic disorders is important in using a well-known oncology treatment. Whereas extreme concentrations of VCR were shown to alter red cell viability, data did not show negative effects in patients treated. Our data show that under conditions of increased hematopoiesis, hemoglobin in the circulation drops rapidly requiring transfusion. VCR administration to patients with a red cell disorder may require additional clinical interventions to compensate for the VCR-induced anemia.
Topics: Anemia; Antineoplastic Agents, Phytogenic; Child; Female; Humans; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Spherocytosis, Hereditary; Vincristine
PubMed: 31161774
DOI: 10.1177/1535370219853791 -
Haematologica Sep 2008
Topics: Genotype; Humans; Phenotype; Spherocytosis, Hereditary
PubMed: 18757847
DOI: 10.3324/haematol.13344 -
Cureus Feb 2024Hereditary spherocytosis/elliptocytosis is a non-immune hemolytic anemia caused by an alteration in the erythrocyte membrane that predisposes the cell to its lysis. This...
Hereditary spherocytosis/elliptocytosis is a non-immune hemolytic anemia caused by an alteration in the erythrocyte membrane that predisposes the cell to its lysis. This report presents a case of a 42-year-old woman with a history of spontaneous abortion, associated with postpartum bleeding, chronic anemia, and premature menopause. After five years, she consulted due to alterations in the state of consciousness and severe symptomatic hyponatremia, with a diagnosis of hypopituitarism, explained by a late Sheehan syndrome. During hospitalization, she developed non-immune hemolytic anemia associated with a positive osmotic fragility test. A diagnosis of hereditary spherocytosis/elliptocytosis was made. We correlate blood hypoosmolarity as a trigger with the in vitro hypotonic solution of the osmotic fragility test for the diagnosis of this disease. This association is not reported in the literature; in our case, we show the concomitant improvement of anemia with the increase in sodium levels and hormonal replacement.
PubMed: 38435165
DOI: 10.7759/cureus.53417 -
Canadian Medical Association Journal Jan 1956
Topics: Anemia, Hemolytic, Congenital; Ankyrins; Humans; Jaundice; Spherocytosis, Hereditary
PubMed: 13276901
DOI: No ID Found -
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 -
Orphanet Journal of Rare Diseases Jul 2020Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and...
BACKGROUND
Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being usually performed as a late step. In this study, we explored 40 patients with congenital hemolytic anemia by whole exome sequencing: 20 patients with hereditary spherocytosis and 20 patients with unexplained hemolysis.
RESULTS
A probable genetic cause of disease was identified in 82.5% of the patients (33/40): 100% of those with suspected hereditary spherocytosis (20/20) and 65% of those with unexplained hemolysis (13/20). We found that several patients carried genetic variations in more than one gene (3/20 in the hereditary spherocytosis group, 6/13 fully elucidated patients in the unexplained hemolysis group), giving a more accurate picture of the genetic complexity of congenital hemolytic anemia. In addition, whole exome sequencing allowed us to identify genetic variants in non-congenital hemolytic anemia genes that explained part of the phenotype in 3 patients.
CONCLUSION
The rapid development of next generation sequencing has rendered the genetic study of these diseases much easier and cheaper. Whole exome sequencing in congenital hemolytic anemia could provide a more precise and quicker diagnosis, improve patients' healthcare and probably has to be democratized notably for complex cases.
Topics: Anemia, Hemolytic, Congenital; Exome; Humans; Mutation; Spherocytosis, Hereditary; Exome Sequencing
PubMed: 32641076
DOI: 10.1186/s13023-020-01425-5 -
Cell Biochemistry and Biophysics Sep 2016Hereditary spherocytosis is an inherited red blood cell membrane disorder resulting from mutations of genes encoding erythrocyte membrane and cytoskeletal proteins. Few...
Hereditary spherocytosis is an inherited red blood cell membrane disorder resulting from mutations of genes encoding erythrocyte membrane and cytoskeletal proteins. Few equipments can observe the structural characteristics of hereditary spherocytosis directly expect for atomic force microscopy In our study, we proved atomic force microscopy is a powerful and sensitive instrument to describe the characteristics of hereditary spherocytosis. Erythrocytes from hereditary spherocytosis patients were small spheroidal, lacking a well-organized lattice on the cell membrane, with smaller cell surface particles and had reduced valley to peak distance and average cell membrane roughness vs. those from healthy individuals. These observations indicated defects in the certain cell membrane structural proteins such as α- and β-spectrin, ankyrin, etc. Until now, splenectomy is still the most effective treatment for symptoms relief for hereditary spherocytosis. In this study, we further solved the mysteries of membrane nanostructure changes of erythrocytes before and after splenectomy in hereditary spherocytosis by atomic force microscopy. After splenectomy, the cells were larger, but still spheroidal-shaped. The membrane ultrastructure was disorganized and characterized by a reduced surface particle size and lower than normal Ra values. These observations indicated that although splenectomy can effectively relieve the symptoms of hereditary spherocytosis, it has little effect on correction of cytoskeletal membrane defects of hereditary spherocytosis. We concluded that atomic force microscopy is a powerful tool to investigate the pathophysiological mechanisms of hereditary spherocytosis and to monitor treatment efficacy in clinical practices. To the best of our knowledge, this is the first report to study hereditary spherocytosis with atomic force microscopy and offers important mechanistic insight into the underlying role of splenectomy.
Topics: Adult; Erythrocyte Membrane; Erythrocytes; Female; Humans; Male; Microscopy, Atomic Force; Nanostructures; Spherocytosis, Hereditary; Splenectomy; Young Adult
PubMed: 27557951
DOI: 10.1007/s12013-016-0755-4