Quelles sont les complications possibles de la sphérocytose héréditaire ?
Les complications incluent des infections, des crises hémolytiques et des calculs biliaires.
ComplicationsInfectionsCalculs biliaires
#2
Comment les infections affectent-elles les patients ?
Les patients sont plus susceptibles aux infections, surtout après une splénectomie.
InfectionsSplénectomiePatients
#3
Les crises hémolytiques sont-elles fréquentes ?
Oui, elles peuvent survenir en cas de stress, d'infections ou d'autres facteurs déclenchants.
Crises hémolytiquesStressInfections
#4
Les calculs biliaires sont-ils un risque ?
Oui, les patients peuvent développer des calculs biliaires en raison de l'hémolyse chronique.
Calculs biliairesHémolyse chroniqueRisque
#5
Comment gérer les complications ?
La gestion des complications nécessite un suivi médical régulier et des traitements appropriés.
GestionSuivi médicalTraitements
Facteurs de risque
5
#1
Quels sont les facteurs de risque de la sphérocytose héréditaire ?
Les facteurs incluent des antécédents familiaux et des origines ethniques spécifiques.
Facteurs de risqueAntécédents familiauxOrigines ethniques
#2
L'origine ethnique influence-t-elle le risque ?
Oui, certaines populations, comme les Scandinaves, ont un risque plus élevé.
Origine ethniqueRisquePopulations
#3
Les antécédents médicaux jouent-ils un rôle ?
Oui, des antécédents d'anémie ou de maladies sanguines augmentent le risque.
Antécédents médicauxAnémieMaladies sanguines
#4
Les enfants sont-ils plus à risque ?
Oui, les enfants de parents porteurs du gène sont à risque accru de développer la maladie.
EnfantsPorteursRisque accru
#5
Le sexe influence-t-il le risque de la maladie ?
Non, la sphérocytose héréditaire affecte les deux sexes de manière égale.
SexeSphérocytose héréditaireÉgalité
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"name": "Comment diagnostiquer la sphérocytose héréditaire ?",
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"text": "Le diagnostic repose sur l'examen sanguin, l'analyse des globules rouges et des tests génétiques."
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"@type": "Question",
"name": "Quels tests sont utilisés pour le diagnostic ?",
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"@type": "Question",
"name": "Quels signes indiquent une sphérocytose héréditaire ?",
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"text": "Les signes incluent une anémie, une jaunisse et une splénomégalie."
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"@type": "Question",
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"text": "Oui, elle est généralement transmise de manière autosomique dominante."
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"@type": "Question",
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"@type": "Question",
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"@type": "Question",
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"@type": "Question",
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"position": 14,
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"@type": "Question",
"name": "Y a-t-il des mesures préventives après une splénectomie ?",
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"@type": "Question",
"name": "Quel est le traitement principal de la sphérocytose héréditaire ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement principal est la splénectomie, qui aide à réduire l'hémolyse des globules rouges."
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"@type": "Question",
"name": "Des transfusions sanguines sont-elles nécessaires ?",
"position": 17,
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{
"@type": "Question",
"name": "Y a-t-il des médicaments pour traiter cette condition ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments comme les corticostéroïdes peuvent être utilisés pour gérer les symptômes."
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"@type": "Question",
"name": "La surveillance médicale est-elle importante ?",
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"@type": "Answer",
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"@type": "Question",
"name": "Quels sont les effets secondaires des traitements ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les effets secondaires peuvent inclure des infections post-splénectomie et des complications hématologiques."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles de la sphérocytose héréditaire ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des infections, des crises hémolytiques et des calculs biliaires."
}
},
{
"@type": "Question",
"name": "Comment les infections affectent-elles les patients ?",
"position": 22,
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"@type": "Answer",
"text": "Les patients sont plus susceptibles aux infections, surtout après une splénectomie."
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"@type": "Question",
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"position": 23,
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"@type": "Question",
"name": "Les calculs biliaires sont-ils un risque ?",
"position": 24,
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"text": "Oui, les patients peuvent développer des calculs biliaires en raison de l'hémolyse chronique."
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},
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"position": 25,
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"@type": "Question",
"name": "Quels sont les facteurs de risque de la sphérocytose héréditaire ?",
"position": 26,
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"name": "L'origine ethnique influence-t-elle le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines populations, comme les Scandinaves, ont un risque plus élevé."
}
},
{
"@type": "Question",
"name": "Les antécédents médicaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents d'anémie ou de maladies sanguines augmentent le risque."
}
},
{
"@type": "Question",
"name": "Les enfants sont-ils plus à risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les enfants de parents porteurs du gène sont à risque accru de développer la maladie."
}
},
{
"@type": "Question",
"name": "Le sexe influence-t-il le risque de la maladie ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, la sphérocytose héréditaire affecte les deux sexes de manière égale."
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Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China. shangrabbit@163.com.
Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China. shangrabbit@163.com.
Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. shangrabbit@163.com.
Hereditary spherocytosis (HS) is a common inherited hemolytic anemia, caused by mutations in five genes that encode erythrocyte membrane skeleton proteins. The red blood cell (RBC) lifespan could dire...
In the present cohort, we identified 8 ANK1,9 SPTB,5 SLC4A1 and 1 SPTA1 mutations in 23 patients with HS, and the median RBC lifespan was 14(8-48) days. The median RBC lifespan of patients with ANK1, ...
The present study is the first to investigate the potential association between genotype and degree of hemolysis in HS. The present findings indicated that there is no significant correlation between ...
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 la...
Due to the heterogeneity of the phenotype of Hereditary spherocytosis (HS) patients, some patients may have rare clinical complications such as biliary obstruction and ultra-high bilirubinemia....
A 8-y-old boy presented to the emergency with complaints of anemia for 6 years and worsened abdominal pain and scleral yellowing of the skin for 2 days. Physical examination showed tenderness in the m...
The diagnosis of HS is not clinically difficult, and once a patient with HS is diagnosed, regular follow-up management and standardized treatment are required. Genetic testing is also needed to screen...
This study aimed to investigate the clinical features, pathogenic gene variants, and potential genotype-phenotype correlations in Chinese patients with hereditary spherocytosis (HS)....
Retrospective analysis of clinical data and molecular genetic characteristics was conducted on patients diagnosed with HS at Jiangxi Provincial Children's Hospital, the Second Affiliated Hospital of N...
A total of 34 HS patients were included in this study, comprising 22 children (64.70%) and 12 adults (35.30%). The probands who underwent genetic testing were derived from 34 unrelated families. Thirt...
This study conducted a comparative analysis of phenotypic characteristics and molecular genetics in adult and pediatric patients diagnosed with HS, confirming that pediatric ANK1-HS patients exhibit a...
Hereditary spherocytosis (HS, MIM#612641) is one of the most common hereditary hemolytic disorders. This study aimed to confirm a novel variant's pathogenicity and reveal a patient's genetic etiology....
The clinical data of a patient with HS who underwent genetic sequencing at the Children's Hospital of Chongqing Medical University were reviewed retrospectively. In silico prediction and in vitro mini...
A novel variant (c.301-2 A > G) in the SPTB gene (NM_001024858.4) was identified in the proband. Using Sanger sequencing, we conclusively confirmed that the inheritance of the variant could not be tra...
We identified a splicing variant of the SPTB gene, thus confirming its aberrant translation. The novel variant was the probable genetic etiology of the proband with HS. Our findings expanded the varia...
To explore the comparative postoperative efficacy of partial splenectomy (PS) and total splenectomy (TS) in the treatment of children with hereditary spherocytosis (HS)....
The relevant HS studies from databases were searched and screened, comparing the differences in hemoglobin concentration, reticulocyte percentage, bilirubin concentration before and after TS and PS su...
A total of 5 studies were included in this meta-analysis, with a cumulative enrollment of 312 children, 130 in the PS group and 182 in the TS group. The meta-analysis results showed that both PS and T...
Splenectomy is a beneficial surgical strategy for children with moderate-to-severe HS, reducing; early hematological outcomes of TS are more robust than PS in the follow-up period, and there is no dif...
Subtotal or total splenectomy are recommended in severe and should be considered in intermediate forms of hereditary spherocytosis (HS). Data on laparoscopic subtotal splenectomy (LSTS) in HS patients...
Thirty three patients with HS (median age 10.7 years (yrs), range 1.8-15.5) underwent LSTS. Baseline and follow-up investigation included haematological parameters, microscopic analysis of pitted eryt...
After LSTS, haemoglobin levels were normalised in all patients. During median long-term follow-up of 3.9 yrs (range 1.1-14.9), only four patients presented mild anaemia. Despite re-growing of the remn...
LSTS is effective for the treatment of patients with HS. A small remnant spleen is sufficient to provide adequate phagocytic function and to induce a pool of IgM memory B-cells....
A congenital protein anomaly in the erythrocyte membrane skeleton causes a hereditary haemolytic illness known as hereditary spherocytosis (HS). The primary characteristic of HS is an increase in the ...
Hereditary spherocytosis (HS) is a congenital haemolytic disorder, resulting from plasma membrane protein deficiency of red blood cells (RBCs). Typical pathological signs are anemia, jaundice, and spl...
This study focused on the state of art about the HS diagnosis, from traditional to innovative methods, including diagnostic algorithms that can be applied for pediatric and adult patients, for differe...
The first erythrocyte parameters used for HS diagnosis were the mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV), and red blood cell distribution width (RDW); nowadays n...
The diagnostic workup of hereditary spherocytosis could be improved thanks to all the available tests, including new molecular tools. However, it requires synergy between clinicians and laboratory sta...
Hereditary spherocytosis (HS) is a genetic disorder characterized by the presence of spherocytes, which are abnormally shaped red blood cells, leading to hemolytic anemia. While HS is not uncommon in ...
