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, vol.51, no.4, pp.560-563, 2008 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 51 Issue: 4
  • Publication Date: 2008
  • Doi Number: 10.1002/pbc.21642
  • Journal Name: PEDIATRIC BLOOD & CANCER
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.560-563
  • Istanbul University Affiliated: Yes

Abstract

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.