Coinheritance of sickle cell anemia and hereditary spherocytosis.
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.
Department of Pediatrics, Haseki Educational and Research Hospital, Istanbul, Turkey.
Nilgun
N
Selcuk Duru
Tiraje
T
Celkan
Mahmut
M
Civilibal
Nur Ozden
NO
Ozbek
A Nazli
AN
Basak
Murat
M
Elevli
D000293:Adolescent; D000755:Anemia, Sickle Cell / Q000150:complications* / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005914:Globins / Q000235:genetics; D006801:Humans; D008297:Male; D035781:Siblings; D013103:Spherocytosis, Hereditary / Q000150:complications* / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D013156:Splenectomy
D005914:Globins