Hereditary spherocytosis Review

Abstract

Hereditary spherocytosis HS is a relatively common hemolytic anemia; most affected individuals have mild or only moderate haemolysis It is a heterogeneous group of disorders with regard to clinical severity protein defects and mode of inheritance 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 Mild HS can be managed without folate supplementation and does not require splenectomy Moderately or severely affected individuals are likely to benefit from splenectomy which should be performed after the age of 5 6 years Turk Arch Ped 2009; 44 Suppl: 27 34 Key words: Anemia diagnosis hereditary spherocytosis treatment

Keywords

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Kalıtsal sferositoz Derleme

Öz

Kalıtsal sferositoz KS oldukça sık rastlanılan bir hemolitik anemidir etkilenen bireylerde hafif veya orta derece bir hemoliz vardır Klinik ağırlığı eksik olan protein ve kalıtımı açısından birbirinden farklı seyir görülebilir Genellikle aile öyküsü alınır klinik ve laboratuvar bulguları da tipik olduğu için çoğunlukla ileri tetkike gereksinim duyulmadan tanı konulur Aile öyküsü alınmayan ve atipik seyreden olgularda eritrosit zar bozukluğunu belirlemek için eritrosit zar proteinlerinin ölçümü gerekebilir Hafif seyirli KS’de splenektomi ve folat yerine koyma tedavisine gerek olmaz Orta ve ağır klinik şekillerinde etkilenen bireyler 5 6 yaş sonrasında yapılması önerilen splenektomiden fayda görürler nbsp; Türk Ped Arş 2009; 44 Özel Sayı: 27 34 Anahtar kelimeler: Anemi herediter sferositoz tanı tedavi

Anahtar Kelimeler

• Anemi, herediter sferositoz, tanı, tedavi

Kaynakça

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