Clinical Significance of G6PD Variants among Palestinians

Conclusion: We conclude that children with G6PD A-deficiency are also susceptible to AHA, but demonstrate in direct comparison within this same population that G6PD Mediterranean and G6PD Cairo are more severe forms of deficiency than G6PD A‐. Further, we show that the heretofore poorly studied G6PD Cairo may be associated with low‐level, chronic hemolysis. This study illustrates favism is a significant public health problem in Gaza due to fava beans as a staple in the diet and the coexistence of polymorphic G6PD deficiency variants in the society. Favism is an easily preventable and manageable genetic disorder with the proper awareness, intervention and education programs

Hemolysis and Mediterranean G6PD mutation (c. 563 C> T) and c. 1311 C> T polymorphism among Palestinians at Gaza Strip

Background The G6PD c.563 C > T deficient mutation is endemic among Mediterranean populations but its clinical significance is not well delineated. We set up to estimate the proportion of G6PD deficient children presenting with hemolytic anemia at Al Nasser Pediatric Hospital at Gaza Strip, Palestine. We then established the prevalence of c.563T Mediterranean mutation and its linkage to c.1311 C > T polymorphism in this population. Design and Methods G6PD deficiency was identified in children presenting with hemolytic anemia at Al Nasser Pediatric Hospital by spectrophotometric measurement of G6PD activity. G6PD exon 6 and exon 11 were amplified from genomic DNA and evaluated for c.563T mutation by sequencing and the c.1311T polymorphism by restriction fragment analysis. Seventy X-chromosomes (60 males and 5 females) from G6PD deficient patients and 40 X-chromosomes from a control

Investigating the design parameters for a permeable reactive barrier consisting of nanoscale zero-valent iron and bimetallic iron/copper for phosphate removal

There is a growing interest in deploying nanoscale zero valent iron (NZVI) in permeable reactive barriers (PRBs) for groundwater remediation. In the present study a series of packed-column experiments were conducted in order to investigate the effectiveness of phosphorus removal from groundwater using NZVI and bimetallic NZVI/Cu as reactive materials within PRBs. Seven sets of packed-column experiments were conducted in order to study the effect of different design parameters for PRB; including delivery approach of NZVI into porous media, PRB's configuration, coexisting groundwater ions and change in flowrate. Results implied that doping NZVI surface with copper had an anti-aggregation effect and enhanced its performance in terms of phosphorus removal 2.2 times higher than bare NZVI. Moreover, the lower flowrate (10 ml/min) demonstrated improved phosphorus removal by 22% compared with higher flowrate (60 ml/min). Additionally, groundwater ions barely interfered phosphorus removal process with only ±6%. Overall, geochemical properties and characteristics of the supporting materials were key parameters in the removal process of phosphorus by NZVI/Cu

Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Gaza Strip Palestinians

Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency, affecting more than 500 million people worldwide, is one of the most common of inherited disorders. There are 186 G6PD mutations published, with mutational clustering within defined ethnic/racial groups. However comprehensive molecular characterization of ethnically associated G6PD mutants and their clinical implications are lacking. Design and methods Eighty unrelated Palestinian children hospitalized for hemolysis were studied. G6PD activity was determined by quantitative spectrophotometry and G6PD mutations were analyzed by sequencing of gDNA. Results 65 of 80 children (81%) had G6PD deficiency, accounting for most of the hemolytic disease in this age group. G6PD Mediterraneanc.563T, African G6PD A-c.202A/c.376G, and G6PD Cairoc.404C were common with relative allele frequencies of 0.33 [1], 0.26, and 0.18 respectively

Possible association of 3′ UTR+ 357 A> G, IVS11-nt 93 T> C, c. 1311 C> T polymorphism with G6PD deficiency

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked inherited enzymopathic disorder affecting more than 500 million people worldwide. It has so far been linked to 217 distinct genetic variants in the exons and exon–intron boundaries of the G6PD gene, giving rise to a wide range of biochemical heterogeneity and clinical manifestations. Objectives: Reports from different settings suggested the association of intronic and other mutations outside the reading frame of the G6PD gene with reduced enzyme activity and presenting clinical symptoms. The present study aimed to investigate any association of other variations apart of the exonic or exonic intronic boundaries in the development of G6PD deficiency. Methods: Sixty-seven unrelated Palestinian children admitted to the pediatric hospital with hemolytic crises due to G6PD deficiency were studied. Results: In our Palestinian

G6PD Deficient Variants Differ in Risk of Hospitalization Among Gaza Strip Palestinian Children

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, affecting more than 500 million people worldwide, is one of the most common inherited disorders. There are 186 G6PD mutations published, with some that cluster within defined ethnic/racial groups, and in some populations more than one variant is encountered. These prevalent variants are generally considered to be benign in adults, but their morbidity, presenting as acute hemolytic anemia, in young children can be significant. However, comprehensive molecular characterization of ethnically prevalent G6PD mutants and their relative clinical significance is lacking. In a region where the frequency of G6PD deficiency in the population is significant (>3%) and fava beans, green and dried, are a dietary staple, the risk of acute hemolytic crisis is significant. We studied 80 consecutively hospitalized unrelated Gaza Strip Palestinian children (ages 34–52 months

G6PD Deficiency in Palestinian children increases risk of hospitalization which differs according to G6PD variant

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, affecting more than 500 million people worldwide, is one of the most common inherited red blood cell disorders. There are 186 G6PD mutations published, with some that cluster within defined ethnic/racial groups. These prevalent variants are generally considered to be benign in adults, but their morbidity, presenting as acute hemolytic anemia in young children, can be significant. However, comprehensive molecular characterization of ethnically prevalent G6PD mutants and their relative clinical significance is lacking. In the Gaza Strip, where the G6PD deficiency frequency in the population is significant (> 3%) and fava beans, green and dried, are a dietary staple, the risk of acute hemolytic crisis is significant. We studied 80 unrelated Gaza Strip Palestinian children (ages 34–52 months, mean= 39.5) hospitalized for acute hemolytic anemia. We found a dramatically increased risk of hospitalization for acute hemolytic anemia among Palestinian children due to G6PD deficiency. The risk varied in accordance with the G6PD variant associated with the disorder. This is the first study comparing the relative clinical impact of three prevalent G6PD deficient variants in the same population and habitat to identify clinically significant effects due to the different genetic mutations. • G6PD deficiency accounts for the majority of Palestinian children hospitalized for hemolytic anemia• G6PD MED, A-and Cairo present a high risk of hospitalization to children• G6PD MED, A-and Cairo are predominant G6PD variants in Gaza Strip, Palestine• Clinical presentation of G6PD Cairo is disproportionate to its

Favism, the commonest form of severe hemolytic anemia in Palestinian children, varies in severity with three different variants of G6PD deficiency within the same community

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic abnormality known to predispose to acute hemolytic anemia (AHA), which can be triggered by certain drugs or infection. However, the commonest trigger is fava beans (Vicia faba) ingestion, causing AHA (favism), which may be life-threatening especially in children. G6PD deficiency is genetically highly heterogeneous, as nearly 200 different mutations have been observed. We have investigated the hematological features of acute favism in the Palestinian Gaza community that is characterized by the polymorphic coexistence of three different G6PD deficiency genes (G6PD A−, G6PD Cairo, G6PD Med). We have found by comparison to the general population (485 adults and 466 newborns) that children with favism, in terms of relative frequency, G6PD A− was under-represented, whereas G6PD Med was over-represented. We also found