Coinheritance of sickle cell anemia and hereditary spherocytosis


DURU N. S. , Celkan T. T. , CIVILIBAL M., OZBEK N. O. , Basak A. N. , ELEVLI M.

PEDIATRIC BLOOD & CANCER, cilt.51, ss.560-563, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 51 Konu: 4
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1002/pbc.21642
  • Dergi Adı: PEDIATRIC BLOOD & CANCER
  • Sayfa Sayıları: ss.560-563

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.