Volumen: 20 # Number : 2
Publication Date : Mayo - Agosto Year: 2016
Hemoglobin Groene Hart [α119(H2)Pro>Ser(α1)]
Authors: Fernández DA, Mansini AP, Aguirre FM1, Pepe C1,
Milanesio B, Chávez A, Eandi Eberle SJ, Feliu Torres A
Abstract: Hb Groene Hart [α119(H2)Pro>Ser(α1)] is a rare
variant of non deletional α-thalassemia, characterized
by an altered interaction with the α globin
stabilizing protein, determining the occurrence of a
thalassemia syndrome. Hematologic and molecular
features of an asymptomatic individual carrying Hb
Groene Hart are reported. This case highlights the
importance of analyzing all hematimetric indices as
a screening tool in carriers of hemoglobinopathies,
with normal hemoglobin level for age and sex, followed
by molecular identification and genetic counselling.
Key words: α-Thalassemia,
hemoglobin Groene Hart,
abnormal hemoglobins.
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