Glucose-6-phosphate dehydrogenase deficiency cases with different clinical presentations Farkli klinik tablolarla başvuran glukoz-6-fosfat dehidrogenaz enzim eksikliǧi olgulari
Turkiye Klinikleri Pediatri, cilt.22, sa.2, ss.53-57, 2013 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 22 Sayı: 2
- Basım Tarihi: 2013
- Dergi Adı: Turkiye Klinikleri Pediatri
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.53-57
- Anahtar Kelimeler: Anemia, Congenital, Glucosephosphate dehydrogenase deficiency, Hemolytic
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Objective: Glucose 6 phosphate dehydrogenase (G6PD) deficiency is the most frequent erythrocyte enzyme deficiency in the world. The clinical manifestations of G6PD deficiency are acu te hemolytic anemia episodes secondary to drugs or infections, favism, increased risk of newborn ja undice and chronic nonspherocytic hemolytic anemia. Our aim was to evaluate the clinical and laboratory features of patients with G6PD deficiency. Material and Methods: In this study, 28 cases with G6PD deficiency who were diagnosed between 2000 2010 in our pediatric hematology depart ment were presented. Results: Thirteen patients who admitted due to newborn jaundice between 1 and 6 days of age had no anemia. Their total bilirubin values were between 10.5 and 31.5 mg/dL and exc hange transfusion was done to two of them. Acute hemolytic anemia secondary to infections in 10 pa tients were mostly upper respiratory tract infections. Two of them were also accompanied with hemoglobinuria. In admission, Mb levels were between 3.2 and 10.3 g/dL with a mean of 6.63±1.95 g/dL. Four patients with favism had severe anemia requiring transfusion and accompanied with hemo globinuria. There was only one patient with chronic nonspherocytic hemolytic anemia who was as sociated with beta thalassemia and had a sequela of kernicterus after a neonatal jaundice. Conclusion: There is an increased incidence of G6PD deficiency in our country. Memolysis in patients secondary to infections is generally self limited, whereas in patients with favism anemia is severe and transfusi on may be required. In cases with neonatal jaundice due to risk of kernicterus early recognition is im portant, and newborn screening tests for this enzyme should be performed. Copyright © 2013 by Türkiye Klinikleri.