Premium
Coinheritance of sickle cell anemia and hereditary spherocytosis
Author(s) -
Selcuk Duru Nilgun,
Celkan Tiraje,
Civilibal Mahmut,
Ozbek Nur Ozden,
Basak A. Nazli,
Elevli Murat
Publication year - 2008
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21642
Subject(s) - hereditary spherocytosis , medicine , erythrocyte fragility , spherocytosis , hemolysis , splenectomy , hemolytic anemia , anemia , hemoglobin , spleen , sickle cell anemia , pediatrics , immunology , gastroenterology , disease
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. Pediatr Blood Cancer 2008;51:560–563. © 2008 Wiley‐Liss, Inc.