Updated Worldwide Epidemiology of Inherited Erythrocyte Disorders

Lippi, Giuseppe; Mattiuzzi, Camilla

doi:10.1159/000502434

Cited by 30 publications

(25 citation statements)

References 18 publications

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“…If the aim is to assess the prevalence and characterize the molecular variation at the population level, genotyping is sufficient. There is a large amount of knowledge accumulated on geographical variability of G6PD (Howes et al, 2013;Bancone et al, 2019;Lippi and Mattiuzzi, 2020;Zheng et al, 2020) so that genotyping can be performed on a small panel of known mutations already described in a given population. Furthermore, full gene sequence can be used to explore rarer variants or to investigate populations lacking prior information.…”

Section: Diagnosis Of G6pd Deficiencymentioning

confidence: 99%

“…Secondly, different RBC conditions such as haemoglobinopathies (e.g., alpha and beta-thalassemia, haemoglobin structural variants) and membrane defects (e.g., ovalocytosis) influence the haemoglobin levels, the number of circulating reticulocytes (Bancone et al, 2017), and the intracellular oxidative state of erythrocytes (Vives Corrons et al, 1995;Margetis et al, 2007). These RBC conditions are particularly common in populations with G6PD deficiency (Lippi and Mattiuzzi, 2020). The impact of concomitant RBC conditions on the phenotypic characterisation of individuals with abnormal G6PD and on their haemolytic response to oxidative stress is not well characterised yet but might be substantial.…”

Section: Prediction Of Drug-induced Haemolysismentioning

confidence: 99%

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G6PD Variants and Haemolytic Sensitivity to Primaquine and Other Drugs

Bancone

Chu

2021

Front. Pharmacol.

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Restrictions on the cultivation and ingestion of fava beans were first reported as early as the fifth century BC. Not until the late 19th century were clinical descriptions of fava-induced disease reported and soon after characterised as “favism” in the early 20th century. It is now well known that favism as well as drug-induced haemolysis is caused by a deficiency of the glucose-6-phosphate dehydrogenase (G6PD) enzyme, one of the most common enzyme deficiency in humans. Interest about the interaction between G6PD deficiency and therapeutics has increased recently because mass treatment with oxidative 8-aminoquinolines is necessary for malaria elimination. Historically, assessments of haemolytic risk have focused on the clinical outcomes (e.g., haemolysis) associated with either a simplified phenotypic G6PD characterisation (deficient or normal) or an ill-fitting classification of G6PD genetic variants. It is increasingly apparent that detailed knowledge of both aspects is required for a complete understanding of haemolytic risk. While more attention has been devoted recently to better phenotypic characterisation of G6PD activity (including the development of new point-of care tests), the classification of G6PD variants should be revised to be clinically useful in malaria eliminating countries and in populations with prevalent G6PD deficiency. The scope of this work is to summarize available literature on drug-induced haemolysis among individuals with different G6PD variants and to highlight knowledge gaps that could be filled with further clinical and laboratory research.

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Section: Diagnosis Of G6pd Deficiencymentioning

confidence: 99%

Section: Prediction Of Drug-induced Haemolysismentioning

confidence: 99%

G6PD Variants and Haemolytic Sensitivity to Primaquine and Other Drugs

Bancone

Chu

2021

Front. Pharmacol.

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“…In fact, countries with the highest prevalence are Africa, Asia, the Mediterranean basin and the Middle East (mean frequencies 5-25%), while in Italy it is 0-3%, with a higher prevalence among the Sardinian population (the mean frequency is 7.5%, with peaks of 25-33% in some provinces) [7]. Lippi and Mattiuzzi also reported that "the worldwide epidemiologic burden of inherited erythrocyte disorders remains particularly high" [8].…”

Section: To the Editormentioning

confidence: 99%

The friendly use of chloroquine in the COVID-19 disease: a warning for the G6PD -deficient males and for the unaware carriers of pathogenic alterations of the G6PD gene

Capoluongo

Amato

Castaldo

2020

Clinical Chemistry and Laboratory Medicine (CCLM)

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“…2 In the first conditional analysis, trait-specific reported variants were adjusted in the model. 3 In the second conditional analysis, all reported variants regardless of associated traits were adjusted in the model. 1 Conditional analysis at the HBA1/2 locus was performed in a subset of TOPMed samples with available alpha globin CNV data.…”

Section: Cd36 Tfrc and Slc12a7mentioning

confidence: 99%

“…RBC indices, including hemoglobin (HGB), hematocrit (HCT), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV), RBC count, and red blood cell width (RDW), are primary indicators of RBC development, size, and hemoglobin content 2 . These routinely measured clinical laboratory assays may be altered in Mendelian genetic conditions (e.g., hemoglobinopathies such as sickle cell disease or thalassemia, red cell cytoskeletal defects, or G6PD deficiency) 3 as well as by non-genetic or nutritional factors (e.g., vitamin B and iron deficiency).…”

Section: Introductionmentioning

confidence: 99%

Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program

Hu¹,

Stilp²,

McHugh³

et al. 2020

Preprint

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Whole genome sequencing (WGS), a powerful tool for detecting novel coding and non-coding disease-causing variants, has largely been applied to clinical diagnosis of inherited disorders. Here we leveraged WGS data in up to 62,653 ethnically diverse participants from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program and assessed statistical association of variants with seven red blood cell (RBC) quantitative traits. We discovered 14 single variant-RBC trait associations at 12 genomic loci. Several of the RBC trait-variant associations (RPN1, ELL2, MIDN, HBB, HBA1, PIEZO1, G6PD) were replicated in independent GWAS datasets imputed to the TOPMed reference panel. Most of these newly discovered variants are rare/low frequency, and several are observed disproportionately among non-European Ancestry (African, Hispanic/Latino, or East Asian) populations. We identified a 3bp indel p.Lys2169del (common only in the Ashkenazi Jewish population) of PIEZO1, a gene responsible for the Mendelian red cell disorder hereditary xerocytosis [OMIM 194380], associated with higher MCHC. In stepwise conditional analysis and in gene-based rare variant aggregated association analysis, we identified several of the variants in HBB, HBA1, TMPRSS6, and G6PD that represent the carrier state for known coding, promoter, or splice site loss-of-function variants that cause inherited RBC disorders. Finally, we applied base and nuclease editing to demonstrate that the sentinel variant rs112097551 (nearest gene RPN1) acts through a cis-regulatory element that exerts long-range control of the gene RUVBL1 which is essential for hematopoiesis. Together, these results demonstrate the utility of WGS in ethnically-diverse population-based samples and gene editing for expanding knowledge of the genetic architecture of quantitative hematologic traits and suggest a continuum between complex trait and Mendelian red cell disorders.

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Updated Worldwide Epidemiology of Inherited Erythrocyte Disorders

Cited by 30 publications

References 18 publications

G6PD Variants and Haemolytic Sensitivity to Primaquine and Other Drugs

G6PD Variants and Haemolytic Sensitivity to Primaquine and Other Drugs

The friendly use of chloroquine in the COVID-19 disease: a warning for the G6PD -deficient males and for the unaware carriers of pathogenic alterations of the G6PD gene

Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program

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