G6PD deficiency is one of the most commonly inherited enzymopathies with a hallmark of an X-linked pattern. G6PD has more than 300 unique variants with different enzyme activity. The G6PD Mediterranean variant is prevalent in Greece and associated with asymptomatic patients who may experience haemolysis under specific circumstances. G6PD Harilaou is a new variant that was first described in Greece in an eight-year-old boy who suffered chronic haemolysis demanding multiple transfusions. We present a new case of the G6PD Harilaou variant in a Greek male neonate who suffered severe intrauterine haemolysis and passed away 39 hours after birth. To our knowledge, it is the second reported G6PD Harilaou case.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8603846 | PMC |
| http://dx.doi.org/10.34763/jmotherandchild.20212501.d-20-00021 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
G6PD deficiency and Harilaou variant in a newborn: Intrauterine haemolysis and meconium aspiration syndrome.
J Mother Child
October 2021
2nd Neonatal Department and Neonatal Intensive Care Unit (NICU), Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece.
G6PD deficiency is one of the most commonly inherited enzymopathies with a hallmark of an X-linked pattern. G6PD has more than 300 unique variants with different enzyme activity. The G6PD Mediterranean variant is prevalent in Greece and associated with asymptomatic patients who may experience haemolysis under specific circumstances.
View Article and Find Full Text PDFIntragenic interspecific complementation of glucose 6-phosphate dehydrogenase in human-hamster cell hybrids.
Somat Cell Mol Genet
March 1990
Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, United Kingdom.
A new variant of human glucose 6-phosphate dehydrogenase (G6PD), provisionally designated G6PD Harilaou, was observed in a Greek boy affected by severe hemolytic anemia. G6PD Harilaou was associated with very severe deficiency of enzyme activity, which measured about 1% of normal in the patient's fibroblasts. By fusion of Harilaou fibroblasts with a similarly enzyme-deficient mutant CHO cell line, we have isolated a hybrid cell line that has a G6PD activity 5-10 times higher than either of the parental cells.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!