Titre du document / Document title

Guidelines for the diagnosis and management of hereditary spherocytosis

Auteur(s) / Author(s)

General Haematology Task Force of the British Committee for Standards in Haematology, ROYAUME-UNI
BOLTON-MAGGS P. H. B. ⁽¹⁾ ; STEVENS R. F. ⁽²⁾ ; DODD N. J. ⁽³⁾ ; LAMONT G. ⁽⁴⁾ ; TITTENSOR P. ⁽⁵⁾ ; KING M.-J. ⁽⁶⁾ ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ Manchester Royal Infirmary, Manchester, ROYAUME-UNI
⁽²⁾ Royal Manchester Children's Hospital, Manchester, ROYAUME-UNI
⁽³⁾ The Ipswich Hospital NHS Trust, Ipswich, ROYAUME-UNI
⁽⁴⁾ Royal Liverpool Children's Hospital, Alder Hey, Liverpool, ROYAUME-UNI
⁽⁵⁾ Patient Representative, Bristol, ROYAUME-UNI
⁽⁶⁾ International Blood Group Reference Laboratory, Bristol, ROYAUME-UNI

Résumé / Abstract

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.

Revue / Journal Title

British journal of haematology   ISSN 0007-1048   CODEN BJHEAL 

Source / Source

2004, vol. 126, n^o4, pp. 455-474 [20 page(s) (article)] (2 p.3/4)

Langue / Language

Anglais

Editeur / Publisher

Blackwell, Oxford, ROYAUME-UNI  (1955) (Revue)

Mots-clés anglais / English Keywords

Blood cell ; Surgery ; Genetic disease ; Hemopathy ; Erythrocytic membrane disease ; Hemolytic anemia ; Human ; Spherocytosis ; Hematology ; Red blood cell ; Plasma membrane ; Child ; Splenectomy ; Hereditary ; Treatment ; Diagnosis ; Recommendation ; Spherocytic anemia ;

Mots-clés français / French Keywords

Cellule sanguine ; Chirurgie ; Maladie héréditaire ; Hémopathie ; Anomalie membrane hématie ; Anémie hémolytique ; Homme ; Sphérocytose ; Hématologie ; Erythrocyte ; Membrane plasmique ; Enfant ; Splénectomie ; Héréditaire ; Traitement ; Diagnostic ; Recommandation ; Anémie sphérocytaire ;

Mots-clés espagnols / Spanish Keywords

Célula sanguínea ; Cirugía ; Enfermedad hereditaria ; Hemopatía ; Anomalía membrana hematía ; Anemia hemolítica ; Hombre ; Hematología ; Eritrocito ; Membrana plasmática ; Niño ; Esplenectomía ; Hereditario ; Tratamiento ; Diagnóstico ; Recomendación ; Anemia esferocítica ;

Mots-clés d'auteur / Author Keywords

spherocytosis ; hereditary ; splenectomy ; child ; erythrocyte membrane ;

Localisation / Location

INIST-CNRS, Cote INIST : 7597, 35400011618262.0040