High Prevalence Of G6PD Deficiency Research Articles

Simultaneous detection of G6PD mutations using SNPscan in a multiethnic minority area of Southwestern China.

Objectives: Baise, a multiethnic inhabited area of southwestern China, is a historical malaria-endemic area with a high prevalence of G6PD deficiency. However, few studies of G6PD deficiency have been conducted in this region. Therefore, we performed a genetic analysis of G6PD deficiency in the Baise population from January 2020 to June 2021. Methods: A SNPscan assay was developed to simultaneously detect 33 common Chinese G6PD mutations. 30 G6PD-deficient samples were used for the method's validation. Then, a total of 709 suspected G6PD-deficient samples collated from the Baise population were evaluated for G6PD status, type of mutation and effect of mutations. Results: The SNPscan test had a sensitivity of 100% [95% confidence interval (CI): 94.87%-100%] and a specificity of 100% (95% CI: 87.66%-100%) for identifying G6PD mutations. A total of fifteen mutations were identified from 76.72% (544/709) of the samples. The most common mutation was discovered to be G6PD Kaiping (24.12%), followed by G6PD Canton (17.91%), and G6PD Gaohe (11.28%). We compared the G6PD mutation spectrum among Zhuang, Han and other Southeast Asian populations, and the Zhuang population's mutation distribution was quite similar to that in the Han population. Conclusion: This study provided a detailed G6PD mutation spectrum in Baise of southwestern China and will be valuable for the diagnosis and research of G6PD deficiency in this area. Furthermore, the SNPscan assay could be used to quickly diagnose these G6PD mutations accurately.

A community based study on haemoglobinopathies and G6PD deficiency among particularly vulnerable tribal groups in hard-to-reach malaria endemic areas of Odisha, India: implications on malaria control

BackgroundHaemoglobinopathies and G6PD deficiency are inherited disorders found mostly in malaria-endemic areas among different tribal groups of India. However, epidemiological data specific to Particularly Vulnerable Tribal Groups (PVTGs), important for planning and implementing malaria programmes, is limited. Therefore, the present community-based study aimed to assess the prevalence of haemoglobinopathies and G6PD deficiency among the 13 PVTGs found in the state of Odisha, reporting the maximum malaria cases in the country.MethodsThis cross-sectional study was conducted from July 2018 to February 2019 in 12 districts, home to all 13 PVTGs, in an estimated sample size of 1461, selected two-stage sampling method. Detection of haemoglobinopathies was done by the variant analyser. Screening of G6PD deficiency was carried out using DPIP method followed by quantification using spectrophotometry. The PCR–RFLP technology was used to determine variant of G6PD deficiency and haplotype analysis of sickle cell, while ARMS-PCR and GAP-PCR was used for detecting the mutation pattern in β-thalassaemia and α-thalassaemia respectively. The diagnosis of malaria was done by Pf-PAN RDT as point of care, followed by nPCR for confirmation and Plasmodium species identification.ResultsThe prevalence of sickle cell heterozygotes (AS) was 3.4%, sickle cell homozygous (SS) 0.1%, β-thalassaemia heterozygotes 0.3%, HbS/β-thalassaemia compound heterozygote 0.07%, HbS-α-thalassaemia 2.1%, G6PD deficiency 3.2% and malaria 8.1%. Molecular characterization of βS revealed the presence of Arab-Indian haplotype in all HbS cases and IVS 1–5 G → C mutation in all β-thalassaemia cases. In case of α-thal, αα/α-3.7 gene deletion was most frequent (38%), followed by αα/α-4.2 (18%) and α-3.7/α-3.7 (4%). The frequency of G6PD Orissa (131C → G) mutation was found to be 97.9% and G6PD Mediterranean (563C → T) 2.1%. Around 57.4% of G6PD deficient individuals and 16% of the AS were found to be malaria positive.ConclusionThe present study reveals wide spread prevalence of sickle cell anaemia, α-thalassaemia, G6PD deficiency and malaria in the studied population. Moderate to high prevalence of G6PD deficiency and malaria warrants G6PD testing before treating with primaquine (PQ) for radical cure of Plasmodium vivax. Screening and counselling for HbS is required for the PVTGs of Odisha.

Risk of hemolysis in Plasmodium vivax malaria patients receiving standard primaquine treatment in a population with high prevalence of G6PD deficiency.

Primaquine is essential for the radical cure of Plasmodium vivax malaria, but it poses a potential danger of severe hemolysis in G6PD-deficient (G6PDd) patients. This study aimed to determine whether primaquine is safe in a population with high G6PD prevalence but lacking G6PD diagnosis capacity. In Myanmar, 152 vivax patients were gender- and age-matched at 1:3 for G6PDd versus G6PD-normal (G6PDn). Their risk of acute hemolysis was followed for 28days after treatment with the standard chloroquine and 14-day primaquine (0.25mg/kg/day) regimen. Patients anemic and non-anemic at enrollment showed a rising and declining trend in the mean hemoglobin level, respectively. In males, the G6PDd group showed substantially larger magnitudes of hemoglobin reduction and lower hemoglobin nadir levels than the G6PDn group, but this trend was not evident in females. Almost 1/3 of the patients experienced clinically concerning declines in hemoglobin, with five requiring blood transfusion. The standard 14-day primaquine regimen carries a significant risk of acute hemolytic anemia (AHA) in vivax patients without G6PD testing in a population with a high prevalence of G6PD deficiency and anemia. G6PD testing would avoid most of the clinically significant Hb reductions and AHA in male patients.

Infections in G6PD-Deficient Hospitalized Patients-Prevalence, Risk Factors, and Related Mortality.

G6PD deficiency is a genetic disease that weakens the immune system and renders affected individuals susceptible to infections. In the Sultanate of Oman resides a high number of recorded G6PD cases due to widespread consanguineous marriage, which may reach 25% of the population. We studied the infection patterns and risk factors for mortality to provide antimicrobial stewardship recommendations for these patients. After obtaining ethical approval, a registry of recorded cases was consulted retrospectively to include G6PD-deficient adult patients admitted to Suhar hospital over 5 years with microbiologically confirmed infections. Patient demographics, health-related information, infection causes, treatment, and clinical outcomes were studied. Data were analyzed to describe infection patterns and risk factors. Several variables, including underlying comorbidities and hospitalization details, such as length of stay, admission to critical care unit, blood transfusion, or exposure to an invasive procedure, were statistically associated with the acquisition of multidrug-resistant and hospital-acquired infections. Meanwhile, these infections were associated with a high mortality rate (28%), significantly associated with the patient’s health status and earlier exposure to antimicrobial treatment due to previous bacterial infection. The high prevalence of G6PD deficiency among the Omani population should alert practitioners to take early action when dealing with such cases during infection that requires hospitalization. Strict infection control measures, Gram-negative empiric coverage, hospital discharge as early as possible, and potent targeted antimicrobial therapy in this patient population can ameliorate the treatment outcomes and should be emphasized by the antimicrobial stewardship team.

Prevalence of Glucose-6-Phosphate Dehydrogenase Deficiency among hospitalized Children at tertiary care Hospital in Eastern Part of Nepal

Introduction: Glucose 6 phosphate dehydrogenase deficiency is the most significant enzyme defect. It is X linked inherited disorder that affects males and females are rarely affected by lyonization. Severe jaundice, anemia and hemolytic crisis following ingestion of fava beans and certain drugs are known to occur in children with G6PD deficiency. Therefore, routine neonatal and child screening programs to facilitate the identification and effective management of children with G6PD deficiency is paramount.
 Objective: The main objective of this study is to find out the hospital prevalence of G6PD deficiency in hospitalized children at Birat Medical College teaching Hospital.
 Methodology: This is a hospital based cross sectional study carried out in the Department of Paediatric, Birat Medical College Teaching Hospital from30th November 2020 to 30th May 2021. Three hundred children upto to ten years of age admitted in department of pediatrics were included in this study. This study was performed on hospitalized children who were screened for G6PD deficiency. The test was carried out using the Randox G6PD quantitative in vitro test to determine the prevalence of G6PD deficiency among the admitted children upto 10 years of age.Data was analysed using SPSS version 16.
 Results: This study was performed on 300 children, in which male babies (n=192; 64%) outnumbered the female babies (n=108; 36%). The majority of children were in the age group of < 1 years (n=131; 43.7%).The overall prevalence of G6PD deficiency was 9.3% of which 96.4% were moderately deficient while 3.6% was severely deficient.The highest proportion was noted in the age group of 1 to 5 years. The frequency of this disorder in males and females were 13.5% and 1.9% respectively which was statistically significant (p=0.001).
 Conclusion: The present study confirms the high prevalence of G6PD deficiency in Eastern Region of Nepal. Therefore, we need to establish routine screening and educational programs in order to prevent grave complications in future.

Molecular Detection of Glucose-6-Phosphate Dehydrogenase Deficiency in Katsina State, Northern Nigeria

Aims: To determine the prevalence of glucose-6-phosphate dehydrogenase deficiency and its variant (G6PD A-) among children diagnosed with Plasmodium falciparum malaria in Katsina state, Nigeria.
 Study Design: Cross-Sectional Studies.
 Place and Duration of Study: General Hospitals Katsina, Dutsin-ma, Daura, Baure, Malumfashi and Funtua of Katsina state, Nigeria from June, 2020 to December, 2020.
 Methodology: A total of 200 blood samples were collected from the study subjects after getting the ethical approval and informed consent. Their socio-demographic information and clinical presentations were also noted with the aid of questionnaire. G6PD deficiency was detected using G6PD qualitative test. Molecular characterization of African A- Variants was carried out using PCR and Sanger sequencing. Phylogenetic studies were carried out to analyze the relationship between the types of mutations found in Nigeria and other countries.
 Results: The G6PD qualitative test shows that 35(17.5%) samples were G6PD deficient which indicates significant association (P<0.05) between G6PD and malaria. The PCR and sequence analysis of the 35 G6PD deficient samples shows the presence of G202A mutations in only 7(20.0%) samples. However, the BLAST analysis of the nucleotide sequences has shown 98.73% - 100% homology with other sequences of G6PD from the NCBI database. The bioinformatics analysis revealed G6PD mutations which indicate a Guanine to Adenine mutations at amino acid number 68 substitution of valine to methionine.
 Conclusion: This study has shown a high prevalence of G6PD deficiency among children diagnosed with Plasmodium falciparum malaria in Katsina State, North-western Nigeria. Polymerase Chain Reaction, NCBI blast, Phylogenetic and Bioinformatics analysis of the deficient samples shows that G202A mutation in relation to the deficient children was not statistically significant (p>0.05), hence does not appear to have a role in G6PD deficiency among children in the selected area of Katsina state, Nigeria though our findings were limited by the small sample size.

Nitrofurantoin and glucose-6-phosphate dehydrogenase deficiency: a safety review.

Nitrofurantoin, a broad-spectrum antibiotic available since 1953, is used widely for the treatment of urinary tract infections as it often retains activity against drug-resistant uropathogens. It is contraindicated in pregnant women at term, and in neonates. Like trimethoprim/sulfamethoxazole, nitrofurantoin carries a warning for patients with known sensitivity to oxidant drugs, notably glucose-6-phosphate dehydrogenase (G6PD) deficiency, in whom it may cause haemolytic anaemia. This is a barrier to uptake in tropical regions where there is a high burden of antimicrobial resistance and where G6PD deficiency is common. Early studies of erythrocyte survival following nitrofurantoin suggest it is less likely to cause oxidant haemolysis in individuals with G6PD deficiency than primaquine. Here we review reports of haemolysis associated with nitrofurantoin from the published literature and from USA (FDA Adverse Event Reporting System; FAERS) and European (VigiBase) pharmacovigilance databases. In total, 318 episodes of haemolytic anaemia were reported and 10 deaths, with 42 (13%) in individuals with confirmed or highly probable G6PD deficiency, out of at least 245 million exposures. A causal link between death and exposure was not reported and a precise risk estimation in G6PD-deficient individuals was not possible as there are few reports from regions where this enzymopathy is most prevalent. The evidence suggests a total daily dose of 200 mg nitrofurantoin may be used for short (3–5 day) course urinary tract infection treatment without G6PD screening when accompanied by appropriate advice. Pharmacovigilance in countries with high prevalence of G6PD-deficiency is recommended to monitor for serious adverse events.

G6PD deficiency in malaria endemic areas of Nepal

BackgroundGlucose-6-phosphate dehydrogenase (G6PD) deficiency is currently a threat to malaria elimination due to risk of primaquine-induced haemolysis in G6PD deficient individuals. The World Health Organization (WHO) recommends G6PD screening before providing primaquine as a radical treatment against vivax malaria. However, evidence regarding the prevalence and causing mutations of G6PD deficiency in Nepal is scarce.MethodsA cross-sectional, population-based, prevalence study was carried out from May to October 2016 in 12 malaria-endemic districts of Nepal. The screening survey included 4067 participants whose G6PD status was determined by G6PD Care Start™ rapid diagnostic test and genotyping.ResultsThe prevalence of G6PD deficiency at the national level was 3.5% (4.1% among males and 2.1% among females). When analysed according to ethnic groups, G6PD deficiency was highest among the Janajati (6.2% overall, 17.6% in Mahatto, 7.7% in Chaudhary and 7.5% in Tharu) and low among Brahman and Chhetri (1.3%). District-wise, prevalence was highest in Banke (7.6%) and Chitwan (6.6%). Coimbra mutation (592 C>T) was found among 75.5% of the G6PD-deficient samples analysed and Mahidol (487 G>A) and Mediterranean (563 C>T) mutations were found in equal proportions in the remaining 24.5%. There was no specific geographic or ethnic distribution for the three mutations.ConclusionsThis study has identified populations with moderate to high prevalence of G6PD deficiency which provides strong evidence supporting the WHO recommendations to screen G6PD deficiency at health facility level before the use of primaquine-based radical curative regimen for Plasmodium vivax.

Glucose-6-Phosphate Dehydrogenase Deficiency among Children Attending the Emergency Department of Yankin Children’s Hospital, Yangon

Yankin Children’s Hospital is one of the tertiary children hospitals in Myanmar, where some oxidative medications are commonly used in the management of illnesses. Paediatrician’s awareness of G6PD status in this population is very important for effective management and prevention of complications in G6PD deficient children. This preliminary study aims to determine the prevalence of G6PD deficiency according to WHO classification among children seeking medical care at Emergency Department of Yankin Children’s Hospital (YKCH). It was a cross-sectional descriptive study on 124 children, aged 1 month to 13 years. G6PD enzyme activity was determined by spectrophotometric assay within 24 hours of sample collection. Randox G6PD quantitative in vitro test kit (Randox Laboratories, Crumlin, UK) was used and G6PD activity was calculated as unit per gram (U/g) of haemoglobin (Hb). For classification of G6PD deficiency, 10% and 60% level of normal enzyme activities were calculated according to the suggestion by World Health Organization (WHO); G6PD activity <10% was defined as severe deficiency and 10-60% was defined as moderate deficiency. According to WHO classification, 18.5% (23/124) of children in this study was classified as G6PD deficient, with 3.2% severe deficiency and 15.3% moderate deficiency. The prevalence of G6PD deficiency in Myanmar children is higher than the previous reported prevalence if quantitative spectrophotometric method is used for diagnosis, detecting more individuals with moderate deficiency. The high prevalence of G6PD deficiency in this study warrants for the need to do neonatal screening to avoid the potentially fatal complications of this disease.

PO 8527 GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY AND ASSOCIATION WITH UNCOMPLICATED MALARIA IN CONGOLESE CHILDREN CONSULTING IN A PAEDIATRIC HOSPITAL IN BRAZZAVILLE

BackgroundMalaria remains a public health problem in Republic of the Congo. The sub-microscopic infection including gametocytaemia constitutes a parasite reservoir that is recognised to contribute to malaria transmission. It is known that primaquine, an 8-aminoquinoline, is effective to eliminate Plasmodium falciparum (Pf) gametocytes. However, it induces haemolytic anaemia in individuals with glucose-6-phosphate dehydrogenase deficiency (G6PDd). It has been reported G6PDd also confers protection against severe malaria. To know the prevalence of G6PDd in the Congolese population is important in the case of future utilisation of this drug in the country. Therefore, in this study, we investigated 1) the prevalence of G6PDd in children infected with Pf and 2) the possible association between the presence of malaria, the presence of G6PD mutation and haemoglobin concentration.Methods229 children aged 1 to 10 years old presenting with fever (axillary T°≥37.5°C) were enrolled at the paediatric hospital Marien Ngouabi in Brazzaville. Thick and thin blood smears were done to detect and identify malaria parasites and determine parasite density. To detect the different glucose-6-phosphate dehydrogenase genotypes, a 968 bp fragment of the G6PD gene containing the polymorphisms 202G&gt1;A and 376&gt1;G was amplified by PCR followed by sequencing.ResultsMalaria prevalence was 22 (10%). With regard to G6PD analysis, it was found that 206 patients had G6PD genotype available including 74.8% (154/206) with G6PD normal, 12.1% (25/206) with heterozygous genotypes and 13.1% (27/206) with G6PD deficiency [11.6% (24/206) were male hemizygous and 1.4% (3/206) were female homozygous]. Data are further analysed to investigate the association between G6PD genotype, uncomplicated malaria, haemoglobin concentration as well as parasite densities.ConclusionA high prevalence of G6PD deficiency is reported for these Congolese children. Further investigation with larger sample size in different areas of the country is needed to design future and adapted interventions.

Safety of Live Liver Donation by Individuals With G6PD Deficiency

G6PD deficiency (G6PDd) is the commonest genetic enzyme defect in the world. However, baring a single case report, there is no published literature regarding the safety of donor hepatectomy in G6PDd individuals. Potential donors with World Health Organization class III or class IV G6PDd without evidence of hemolysis were evaluated for donation, if there was no other suitable donor. Postoperatively, donors were closely monitored for hemolysis and medications, which can induce hemolysis, were avoided. Outcomes of our first 14 G6PDd donors are presented. Postoperative course of these donors was also compared with a matched cohort of 30 non-G6PDd donors. There were 9 left lateral segment, 2 left lobe, and 3 right lobe donors. Two G6PDd donors had biochemical evidence of postoperative hemolysis not needing any specific treatment. Postoperative liver function tests, intensive care unit stay, hospital stay, and morbidity (greater than Clavien II) were similar in the G6PDd and non-G6PDd donor cohorts. Donors in the G6PDd group had lower trough hemoglobin in postoperative period (P = 0.006), greater drop in postoperative hemoglobin (P = 0.007), and a higher need for postoperative blood transfusion (4/14 vs 2/30, P = 0.071). This is the first case series reporting the safety of liver resection in G6PDd individuals. Hepatectomy in G6PD-deficient donors is associated with a greater drop in postoperative hemoglobin and a marginally increased need for postoperative transfusion. Use of these donors can be considered with caution, and it should not be an absolute contraindication for live liver donation.

Prevalence and Molecular Identification of the Mediterranean Variant Among G6PD-Deficient Sistani and Balouch Males in Southeastern Iran

To determine the prevalence of G6PD deficiency and a Mediterranean mutation among males in southeastern Iran, we studied 1,097 Sistani and Balouch schoolboys. A questionnaire was used to collect demographic data and a history of malaria infection; blood samples were evaluated for G6PD deficiency and the G6PD Mediterranean mutation. Of the 1,097 boys screened, 175 were G6PD deficient (5.8 % of the Sistani boys and 19.3 % of the Balouch boys). The malaria survey indicated that among Balouch subjects, malaria infection was about 14 times that of Sistani subjects. Molecular characterization of G6PD-deficient samples revealed a general frequency of 85.1 % for the Mediterranean variant among all subjects (75 % among Sistani and 86.2 % among Balouch cases). The high prevalence of G6PD deficiency among Balouch populations confirms the hypothesis that the distribution of G6PD deficiency is concordant with the geographic distribution of malaria.

Glucose 6 phosphate dehydrogenase levels in babies delivered at the University of Ilorin teaching hospital.

Background: Glucose-6-phosphate dehydrogenase deficiency, an X-linked recessive disorder, is the most common enzymopathy producing disease in humans.It is known to cause severe neonatal hyperbilirubinaemia. Aims and Objectives: To determine G6PD levels in babies delivered at the University of Ilorin Teaching Hospital with a view to determining the prevalence of G6PDdeficiency. Methods: Samples of cord blood were collected at delivery, from 933 babies who met set criteria. Blood was assayed for G6PD levels using a quantitative in vitro test (RANDOX©). Results: A total of 348 (37.3%) of the 933 tested subjects had G6PD deficiency with enzyme activity of ≤ 2.8U/gHb. Glucose 6 Phosphate Dehydrogenase levels in female babies with normal enzyme levels were significantly higher than in male babies with normal enzyme levels (5.72 ± 2.45 U/gHb versus 4.99 ± 2.3 U/gHb, p = 0.002). Enzyme levels in babies with G6PD deficiency was comparable in both males and females (2.05 ± 0.60 u/gHb in females and 2.1 ± 0.66 U/gHb in males, p = 0.66). The prevalence of G6PD deficiency was comparable among males and females (p = 0.81 Χ²= 0.06, RR = 1.02 , CI = 0.9 0 < R R < 1.15 , OR=1.04). Conclusion: There is a high prevalence of G6PD deficiency in babies delivered at the University of Ilorin Teaching Hospital, and the enzyme deficiency appears to occur equally among the sexes.Key words: Glucose-6-phosphate, neonates, cord blood

Population screening for glucose-6-phosphate dehydrogenase deficiencies in Isabel Province, Solomon Islands, using a modified enzyme assay on filter paper dried bloodspots

BackgroundGlucose-6-phosphate dehydrogenase deficiency poses a significant impediment to primaquine use for the elimination of liver stage infection with Plasmodium vivax and for gametocyte clearance, because of the risk of life-threatening haemolytic anaemia that can occur in G6PD deficient patients. Although a range of methods for screening G6PD deficiency have been described, almost all require skilled personnel, expensive laboratory equipment, freshly collected blood, and are time consuming; factors that render them unsuitable for mass-screening purposes.MethodsA published WST8/1-methoxy PMS method was adapted to assay G6PD activity in a 96-well format using dried blood spots, and used it to undertake population screening within a malaria survey undertaken in Isabel Province, Solomon Islands. The assay results were compared to a biochemical test and a recently marketed rapid diagnostic test.ResultsComparative testing with biochemical and rapid diagnostic test indicated that results obtained by filter paper assay were accurate providing that blood spots were assayed within 5 days when stored at ambient temperature and 10 days when stored at 4 degrees. Screening of 8541 people from 41 villages in Isabel Province, Solomon Islands revealed the prevalence of G6PD deficiency as defined by enzyme activity < 30% of normal control was 20.3% and a prevalence of severe deficiency that would predispose to primaquine-induced hemolysis (WHO Class I-II) of 6.9%.ConclusionsThe assay enabled simple and quick semi-quantitative population screening in a malaria-endemic region. The study indicated a high prevalence of G6PD deficiency in Isabel Province and highlights the critical need to consider G6PD deficiency in the context of P. vivax malaria elimination strategies in Solomon Islands, particularly in light of the potential role of primaquine mass drug administration.

Prevalence and molecular characterization of Glucose-6-Phosphate dehydrogenase deficient variants among the Kurdish population of Northern Iraq

BackgroundGlucose-6-Phosphate dehydrogenase (G6PD) is a key enzyme of the pentose monophosphate pathway, and its deficiency is the most common inherited enzymopathy worldwide. G6PD deficiency is common among Iraqis, including those of the Kurdish ethnic group, however no study of significance has ever addressed the molecular basis of this disorder in this population. The aim of this study is to determine the prevalence of this enzymopathy and its molecular basis among Iraqi Kurds.MethodsA total of 580 healthy male Kurdish Iraqis randomly selected from a main regional premarital screening center in Northern Iraq were screened for G6PD deficiency using methemoglobin reduction test. The results were confirmed by quantitative enzyme assay for the cases that showed G6PD deficiency. DNA analysis was performed on 115 G6PD deficient subjects, 50 from the premarital screening group and 65 unrelated Kurdish male patients with documented acute hemolytic episodes due to G6PD deficiency. Analysis was performed using polymerase chain reaction/restriction fragment length polymorphism for five deficient molecular variants, namely G6PD Mediterranean (563 C→T), G6PD Chatham (1003 G→A), G6PD A- (202 G→A), G6PD Aures (143 T→C) and G6PD Cosenza (1376 G→C), as well as the silent 1311 (C→T) mutation.ResultsAmong 580 random Iraqi male Kurds, 63 (10.9%) had documented G6PD deficiency. Molecular studies performed on a total of 115 G6PD deficient males revealed that 101 (87.8%) had the G6PD Mediterranean variant and 10 (8.7%) had the G6PD Chatham variant. No cases of G6PD A-, G6PD Aures or G6PD Cosenza were identified, leaving 4 cases (3.5%) uncharacterized. Further molecular screening revealed that the silent mutation 1311 was present in 93/95 of the Mediterranean and 1/10 of the Chatham cases.ConclusionsThe current study revealed a high prevalence of G6PD deficiency among Iraqi Kurdish population of Northern Iraq with most cases being due to the G6PD Mediterranean and Chatham variants. These results are similar to those reported from neighboring Iran and Turkey and to lesser extent other Mediterranean countries.

A Correlative Study of HLA, Sickle Cell Gene and G6PD Deficiency with Splenomegaly and Malaria Incidence Among Bhils and Pawra Tribes from Dhadgon, Dhule, Maharastra

Haldane proposed that the sickle cell gene provides a survival advantage in malarial endemic regions. A high malarial endemicity has also been attributed to a high prevalence of G6PD deficiency in ...

DNA haplotypes in the G6PD gene cluster studied in the Chinese Li population and their relationship to G6PDCanton.

In an effort to investigate the subtelomeric region of the X chromosome among Orientals, five DNA sites in the F8C and G6PD genes were analyzed in a sample of 46 chromosomes belonging to the Chinese Li population, an ethnic group characterized by a high prevalence of G6PD deficiency. The DNA sites analyzed, which are highly polymorphic in other populations, have a low degree of heterozygosity in the Li sample and, furthermore, the distribution of the corresponding haplotypes is very different from that previously observed in Italian populations. Interestingly, three unrelated Li G6PD-deficient variants analyzed at the DNA level have the 1376G-->T mutation characteristic of G6PDCanton and they share the same haplotype, including the sites mentioned above, as well as eight DNA polymorphisms in the red/green color vision pigment genes located proximal to G6PD on chromosome X.