Sickle cell anemia Review

Yıl 2009, Cilt: 44 Sayı: 11, 39 - 42, 01.06.2009

Bülent Antmen

Öz

Sickle hemoglobin HbS so called because of the sickle shape it imparts to deoxynated red cells is responsible for a wide spectrum of disorders that vary with respect to degree of anemia frequency of crises extent of organ injury and duration of survival The sickle mutation substitutes thymine for adenine in the sixth codon of the b gene GAGÆGTG thereby encoding valine instead of glutamine in the sixth position of the ß chain This ostensibly minor change in structure is responsible for profound changes in molecular stability and solubulity The tendency of deoxynated HbS to undergo polimerization underlies the innumerable expressions of the sickling syndromes Turk Arch Ped 2009; 44 Suppl: 39 42 Key words: Hemoglobin S pediatric sickle cell anemia

Anahtar Kelimeler

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Orak hücre anemisi Derleme

Öz

Orak hücre anemisi deoksijene olan eritrositlerin orak şeklini almasından dolayı nbsp; hemoglobin S HbS olarak adlandırılan hemoglobinin sorumlu olduğu çok geniş yelpazede anemi sık krizler geniş organ hasarlarının olduğu yaşam süresinin etkilendiği bir bozukluktur Oraklaşma mutasyonu b geninin 6 kodonunda bulunan adenin yerine timinin GAGÆGTG gelmesi ile hemoglobinin b zincirinin 6 pozisyonundaki glutamik asitle valinin yer değiştirmesi sonucunda oluşur S hemoglobinini taşıyan eritrositler düşük oksijenli ortamda polimerize olarak disk şeklinde olan eritrositin orak şeklini almasına neden olur Hemoglobin S’yi homozigot veya heterozigot durumda taşıyan kişilerde veya diğer hemoglobinlerle birlikte taşıyan kişilerde görülen bulguların oluşturduğu tabloya “oraklaşma sendromları” adı verilir nbsp; Türk Ped Arş 2009; 44 Özel Sayı: 39 42 Anahtar kelimeler: Çocukluk çağı hemoglobin S orak hücre anemisi

Anahtar Kelimeler

Çocukluk çağı, hemoglobin S, orak hücre anemisi

Kaynakça

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