[Severe hemolytic anemia due to hemoglobin Southampton: case report].
Variant hemoglobins are the result of different types of mutations that occur in the globin genes. In many cases, these hemoglobinopathies are harmless, while in others they determine alterations in the physical and chemical properties raising clinical manifestations of variable severity. In the unstable hemoglobinopathies, the changes reduce solubility, inducing the formation of precipitates of denaturated hemoglobin (Heinz bodies), which damage the membrane and finally destroy the red blood cells prematurely. Up to now, more than 142 different unstable hemoglobins have been described, most of them cause chronic hemolysis, increased by infections or drugs. We report the clinical presentation of an unstable hemoglobin (hemoglobin Southampton) in a girl with severe hemolytic anemia, splenomegaly and red blood cell requirement.
Servicio de Hematología-Oncología, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
Vanesa
V
Avalos Gómez
Silvia
S
Eandi Eberle
Carolina
C
Pepe
Gabriela
G
Sciuccati
Nerina
N
García Rosolen
Carolina
C
Cervio
Lilian
L
Díaz
Andrea
A
Candás
Mariana
M
Bonduel
Guillermo
G
Piazza
Darío
D
Chaves
Aurora
A
Feliú Torres
D000743:Anemia, Hemolytic / Q000097:blood / Q000175:diagnosis / Q000209:etiology*; D002675:Child, Preschool; D005260:Female; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006801:Humans; D012720:Severity of Illness Index
D006455:Hemoglobins, Abnormal; C058164:hemoglobin Southampton