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Fetal anemia caused by the Guadalajara variant of G6PD deficiency
Author(s) -
Keller Caroline C.,
Joosten Marieke,
Middeldorp Annemieke M.,
Knapen Maarten F. C. M.
Publication year - 2015
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4677
Subject(s) - fetus , medicine , anemia , hemolytic anemia , prenatal diagnosis , pediatrics , pregnancy , immunology , biology , genetics
What's already known about this topic? The rare Guadalajara variant of G6PD deficiency is known for causing severe hemolytic anemia.What does this study add? This is the first published case of a diagnosed and treated fetal anemia, caused by the Guadalajara variant of G6PD deficiency. It is important to note that non‐invasive fetal Doppler screening can be performed for pregnant women who are carriers of this X‐linked recessive disorder.