Coinheritance of sickle cell anemia and hereditary spherocytosis
Pediatric Blood and Cancer, cilt.51, sa.4, ss.560-563, 2008 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 51 Sayı: 4
- Basım Tarihi: 2008
- Doi Numarası: 10.1002/pbc.21642
- Dergi Adı: Pediatric Blood and Cancer
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.560-563
- Anahtar Kelimeler: hereditary spherocytosis, sickle cell anemia, splenectomy, splenomegaly
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
To date only three siblings with coinheritance of sickle cell anemia (SCA) and hereditary spherocytosis (HS) have been reported. We here describe a 17-year-old boy who experienced episodes of hemolysis and had a large spleen. The diagnosis of SCA was confirmed by hemoglobin electrophoresis (HbS 88.9%) and genetic analysis (homozygote HbSS mutation). The diagnosis of HS was established by an osmotic fragility test, performed twice. A splenectomy was performed, and following surgery the hemoglobin concentration was maintained between 9 and 11 g/dl without further transfusion requirements. This patient was the fourth reported case with co-existence of two different genetically transmitted hemolytic anemias. © 2008 Wiley-Liss, Inc.