Glucose-6-phosphate dehydrogenase gene Ala365Thr mutation in an Iraqi family with confusing clinical differences

Yasemin Ardicoglu Akisin,Zafer Arslan,Serdar Ceylaner,Nejat Akar

doi:10.1515/tjb-2021-0088

Yasemin Ardicoglu Akisin, Zafer Arslan + Show 2 more

Open Access

https://doi.org/10.1515/tjb-2021-0088

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Abstract

Abstract Objectives Glucose-6-phosphate dehydrogenase (G6PD) has role in the Embden Meyerhof road. Any loss of its function causes NADPH to cease, leaving erythrocytes susceptible to oxidative damage resulting in acute hemolytic anemia attacks secondary to drugs or infection and favism. Because of X-linked recessive inheritance males are mainly affected. Being heterozygous, females have less severe clinical presentation. Case presentation G6PD deficiency was suspected in a six-year-old girl from an Iraqi family with a history of yellowing of skin and darkening of urine after eating broad beans. Besides the patient, G6PD levels were found low in the father and in two sisters who showed no symptoms. The father was found hemizygous and the three sisters were found heterozygous for NM_000402.4c.1093G>A(p.A365T)(6.Ala365Thr) mutation while the mother was normal. Conclusions G6PD enzyme deficiency can be seen in both genders, and it may be presented with different clinical manifestations even within the people having the same mutation.

Highlights

Glucose-6-phosphate dehydrogenase (G6PD) enzyme is an important enzyme that has role in the first step of the Embden Meyerhof road
Any loss of its function causes NADPH to cease, leaving erythrocytes susceptible to oxidative damage resulting in acute hemolytic anemia attacks secondary to drugs or infection and favism
G6PD enzyme deficiency can be seen in both genders, and it may be presented with different clinical manifestations even within the people having the same mutation

Summary

Introduction

Glucose-6-phosphate dehydrogenase (G6PD) enzyme is an important enzyme that has role in the first step of the Embden Meyerhof road. Erythrocytes, which are unable to synthesize the enzyme with reduced activity, undergo hemolysis due to toxic oxygen radicals formed as a result of their metabolism This phenomenon may cause mild and persistent, or sudden and severe hemolytic crisis due to some triggering factors (some drugs, broad beans, some chemicals). When detailed information was taken, the presented patient had the history of yellowing of skin and darkening of the urine encountered 1–2 times in the last 4 years after eating broad beans. She was given iron therapy during this period in Iraq. The father was found hemizygous and three sisters were found heterozygous for the NM_000402.4 c.1093G> A (p.A365T) (6.Ala365Thr) mutation while the mother’s result was normal

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