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A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia

✍ Scribed by Rubén Lisker; Rocio Pérez Briceno; Lydia Agrilar; Akira Yoshida

Publisher
Springer
Year
1978
Tongue
English
Weight
251 KB
Volume
43
Category
Article
ISSN
0340-6717

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✦ Synopsis

Erythrocyte glucose-6-phosphate deficiency is an X-chromosomallinked hereditary trait often associated with hemolytic anemia. This report defines a new variant designated as Gd(-) Chiapas, which was found in a subject with occasional hemolytic jaundice. The red cell enzyme activity of the subject is about 15% of normal. The variant enzyme is thermolabile in vitro and has faster-than-normal anodal electrophoretic mobility and stronger-thannormal substrate affinity. The patient's hemolytic problem might be correlated with instability of the variant enzyme under physiologic stress.

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✍ H. Ogura; T. Morisaki; K. Tani; H. Kanno; H. Tsutsumi; K. Takahashi; T. Miyamori 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 258 KB

A new glucose-6-phosphate dehydrogenase (G6PD) variant associated with chronic nonspherocytic hemolytic anemia was found in a 20-year-old Japanese male who showed mild hemolysis after an upper respiratory tract infection. The patient had been noted to have jaundice and reticulocytosis several times