Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive hemolytic anemia caused by mutations in G6PD gene. The distribution and frequency of genetic variants differ depending on ethnicity and geographical areas. Because of new migrations different variants are now present in Europe. This retrospective study aims to identify variants among the G6PD deficient subjects referred since 2004 to IRCCS Ca’ Granda Foundation Hospital in Milan. The subjects were divided into 3 groups: group 1 (2004–2008), group 2 (2009–2013), and group 3 (2014–2018). During 15 years a significant decrease of the Mediterranean and an important increase of the African, Asian, and uncommon variants (classified as Others) have been observed. Three new mutations were found: in group 2 heterozygosity for c.[1454G > A] (Gly485Asp) in an adult female with severe anemia, high bilirubin levels and G6PD activity of 0,69 (IU/gHb) and heterozygosity for c.[584A > G] (Gln195Arg) in an elderly woman of Italian origin showing only anemia and enzymatic activity of 1,54 (IU/gHb) were detected. In group 3 hemizygosity for c.[670A > T] (Ile224Phe) in an adult Chinese man without anemia but with total absence of G6PD activity was found. These data reflect the appearance of uncommon G6PD mutations in northern Italy, probably due to new migrations, as consequence G6PD characterization becomes a diagnostic issue.

Epidemiological shift of glucose-6-phosphate dehydrogenase mutations in Northern Italy in the last 15 years / L. Duca, I. Nava, D. Tavazzi, A. Marcon, I. Motta, G. Graziadei. - In: ANNALS OF HEMATOLOGY. - ISSN 0939-5555. - 100:11(2021 Nov), pp. 2683-2688. [10.1007/s00277-021-04630-9]

Epidemiological shift of glucose-6-phosphate dehydrogenase mutations in Northern Italy in the last 15 years

L. Duca
Primo
;
I. Nava
Secondo
;
D. Tavazzi;A. Marcon;I. Motta
Penultimo
;
G. Graziadei
Ultimo
2021

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive hemolytic anemia caused by mutations in G6PD gene. The distribution and frequency of genetic variants differ depending on ethnicity and geographical areas. Because of new migrations different variants are now present in Europe. This retrospective study aims to identify variants among the G6PD deficient subjects referred since 2004 to IRCCS Ca’ Granda Foundation Hospital in Milan. The subjects were divided into 3 groups: group 1 (2004–2008), group 2 (2009–2013), and group 3 (2014–2018). During 15 years a significant decrease of the Mediterranean and an important increase of the African, Asian, and uncommon variants (classified as Others) have been observed. Three new mutations were found: in group 2 heterozygosity for c.[1454G > A] (Gly485Asp) in an adult female with severe anemia, high bilirubin levels and G6PD activity of 0,69 (IU/gHb) and heterozygosity for c.[584A > G] (Gln195Arg) in an elderly woman of Italian origin showing only anemia and enzymatic activity of 1,54 (IU/gHb) were detected. In group 3 hemizygosity for c.[670A > T] (Ile224Phe) in an adult Chinese man without anemia but with total absence of G6PD activity was found. These data reflect the appearance of uncommon G6PD mutations in northern Italy, probably due to new migrations, as consequence G6PD characterization becomes a diagnostic issue.
epidemiology; favism; G6PD deficiency; G6PD mutations; G6PD variants; hemolytic anemia; adolescent; adult; Africa South of the Sahara; aged; alleles; Asian Continental Ancestry Group; child; child, preschool; China; emigrants and immigrants; European Continental Ancestry Group; female; gene frequency; genetic variation; genotype; glucosephosphate dehydrogenase; glucosephosphate dehydrogenase deficiency; humans; Italy; male; Mediterranean region; middle aged; retrospective studies; young adult; mutation
Settore MED/09 - Medicina Interna
Settore MED/15 - Malattie del Sangue
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/879270
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