Effect of weekly versus daily primaquine on Plasmodium vivax malaria recurrences: A real-life cohort study

ABSTRACT Background: Although primaquine (PQ) is indicated for G6PD-deficient patients, data on weekly PQ use in Brazil are limited. Methods: We aimed to investigate malaria recurrences among participants receiving daily and weekly PQ treatments in a real-life setting of two municipalities in the Amazon between 2019 and 2020. Results: Patients receiving weekly PQ treatment had a lower risk of recurrence than those receiving daily PQ treatment (risk ratio: 0.62, 95% confidence interval: 0.41-0.94), using a model adjusted for study site. Conclusions: Weekly PQ use did not increase the risk of malaria recurrence. Further studies with larger populations are warranted.

Prevalence of UGT1A1 (TA)n promoter polymorphism in Panamanians neonates with G6PD deficiency

A relationship between the polymorphism in promoter region of the UGT1A1 gene and the development of jaundice has been demonstrated recently. This polymorphism leads to 30% of normal rate transcription initiation of UGT1A1 gene, thus decreasing the bilirubin glucuronidation. The combination of the G6PD deficiency and polymorphism in neonates and adults may cause pronounced hyperbilirubinaemias. The aim of this study was to analyse the variations in the UGT1A1 gene promoter in Panamanians neonates with G6PD deficiency and its association with neonatal jaundice (NJ). We identified five different genotypes of TA repeats, in 17 neonates (42.5%) the normal variant TA6/TA6 and in the other 57.5% of the subjects: TA7/TA7 (12.5%), TA6/TA7 (40%), TA6/ TA8 (2.5%) and TA6/TA5 (2.5%). Additionally 75% of the 16 newborns that showed NJ had an abnormal variant in the promoter sequence, although, there was no significant difference (P = 0.068). The risk of jaundice in neonates with TA7 variant was thrice higher in subjects than with other alleles (P = 0.093, CI: 0.81–11.67). The TA7 allele frequency in this study (0.325) was consistent with the global frequency and similar to Caucasians. The results proved that there is no significant relationship between promoter polymorphism in UGT1A1 and NJ in G6PD deficient Panamanian newborns. Further studies with a greater number of subjects would determine the exact relationship between marked NJ and UGT1A promoter variations.

Recent trends of glucose-6-phosphate dehydrogenase deficiency among saudi population in Riyadh city / Tendências recentes da deficiência de glicose-6-fosfato desidrogenase entre a população saudita na cidade de Riade

G6PD deficiency is associated with erythrocyte deficiency in the X-chromosome enzyme. It causes a hematologic syndrome called hemolytic anemia that connects G6PD deficiency with X-linked condition. In the Middle East, including Saudi Arabia, G6PD deficiency is the most dominant genetic blood disorders. It results in higher rates of mortality and morbidity due to its incurable long-lasting nature and prevalence of physical and psychological incapacities. In this study, an attempt was made to evaluate the prevalence of G6PD deficiency among the Saudi population in Riyadh city. A cross-sectional retrospective study was conducted at King Saud University Medical City in Riyadh, Saudi Arabia. The population of the study comprised randomly chosen males and females who visited the hospital from January 2017 to January 2018. Statistical analyses were performed using SPSS, and descriptive analysis was used to find the frequency of G6PD-deficient patients. Out of the 209 patients, 62.2% were males (n=130) and 37.8% were females (n=79). Twenty males and 6 females were found to have G6PD deficiency, with the male to female ratio being 1:3. Out of the total 130 male participants, 20 patients were found to be enzyme deficient and 6 patients of 79 female patients were found to be G6PD deficient. There were 38.4% (n=10) patients with G6PD level <4 units/gram hemoglobin, 26.9% (n=7) patients had G6PD levels of 4.1­7.0 units/gram hemoglobin, and 34.6% (n=9) patients had >7 units/gram hemoglobin. Among the G6PD patients, 23.07% patients were severely anemic, and 5 (19.2%) patients were reported to have high bilirubin. The present study revealed the G6PD prevalence to be 12.4% among the Saudi population; this value is significantly higher than that found in France, Spain, India, and Singapore. In the Saudi population, males are more vulnerable to G6PD-deficient than females. Hence, attention should be paid to G6PD-deficient patients while prescribing antimalarial medication. Such patients may be advised to avoid certain foods to minimize the risk of having hemolytic episodes.

A deficiência de G6PD está associada à deficiência de eritrócitos na enzima do cromossomo X. Causa uma síndrome hematológica chamada anemia hemolítica que conecta a deficiência de G6PD à condição ligada ao X. No Oriente Médio, incluindo a Arábia Saudita, a deficiência de G6PD é o distúrbio genético do sangue mais dominante. Isso resulta em maiores taxas de mortalidade e morbidade devido à sua natureza incurável e duradoura e à prevalência de incapacidades físicas e psicológicas. Neste estudo, foi feita uma tentativa de avaliar a prevalência de deficiência de G6PD entre a população saudita na cidade de Riade. Um estudo retrospectivo transversal foi realizado na cidade médica da Universidade King Saud, em Riade, na Arábia Saudita. A população do estudo compreendeu homens e mulheres escolhidos aleatoriamente que visitaram o hospital entre janeiro de 2017 e janeiro de 2018. As análises estatísticas foram realizadas com o SPSS e a análise descritiva foi utilizada para determinar a frequência de pacientes com deficiência de G6PD. Dos 209 pacientes, 62,2% eram do sexo masculino (n = 130) e 37,8% eram do sexo feminino (n = 79). Verificou-se que 20 homens e 6 mulheres apresentavam deficiência de G6PD, sendo a proporção homem/mulher de 1:3. Do total de 130 participantes do sexo masculino, 20 pacientes apresentaram deficiência de enzima e 6 de 79 pacientes do sexo feminino apresentaram deficiência de G6PD. Havia 38,4% (n = 10) pacientes com nível de G6PD < 4 unidades/grama de hemoglobina, 26,9% (n = 7) pacientes tinham níveis de G6PD de 4,1-7,0 unidades/grama de hemoglobina e 34,6% (n = 9) pacientes tinham > 7 unidades/grama de hemoglobina. Entre os pacientes com G6PD, 23,07% eram severamente anêmicos e cinco (19,2%) pacientes relataram ter alta bilirrubina. O presente estudo revelou que a prevalência de G6PD é de 12,4% na população saudita; esse valor é significativamente maior que o encontrado na França, Espanha, Índia e Cingapura. Na população saudita, os homens são mais vulneráveis à deficiência de G6PD do que as mulheres. Portanto, deve-se prestar atenção aos pacientes com deficiência de G6PD durante a prescrição de medicamentos antimaláricos. Esses pacientes podem ser aconselhados a evitar certos alimentos para minimizar o risco de episódios hemolíticos.

Assessment of the prevalence of G6PD deficiency in RBCs of live new-borns born at tertiary care hospital

Background: Glucose-6-phosphate dehydrogenase is one of many enzymes that help the body process carbohydrates and turn them into energy. The mechanism by which G6PD deficiency causes neonatal hyper bilirubin may be due to hemolysis, but other mechanisms like secondary impairment of bilirubin conjugation and clearance by the liver may play a role. Therefore, through this study authors attempt to study the need for a newborn screening program for G6PD deficiency because of high prevalence and high risk of incidence due to consanguineous marriages in India.Methods: This study was a prospective cross-sectional study conducted among 350 consecutively born live new-borns in maternity wards and NICU of Krishna Institute of Medical Sciences and Hospital and Research Centre, Karad, Maharashtra during October 2016 to October 2017.Results: The maximum numbers of newborns were in the age group of 0-10 hours (36.80%), followed by in 11-20 hours (21.80%). The mean age among newborns was 2.86'5.83 hours. Out of 350 cases females were 181 (51.71%) and males (48.29%) and female to male ratio was 1.07:1.Conclusions: G6PD deficiency is one of the major causes of neonatal jaundice within 24 hours of life in new-borns. Hence, neonatal screening for G6PD deficiency could be an alternative to the haemolytic crisis prevention strategy in order to optimize affected young child care and prevention of crisis occurrence by avoiding taking contraindicated foods and drugs.

Karyotyping and population genetics in Cold War Mexico: Armendares's and Lisker's characterization of child and indigenous populations, 1960s-1980s / Cariotipia e genética de populações no México da Guerra Fria: as caracterizações de Armendares e Lisker sobre as populações infantil e indígena, 1960-1980

Abstract This paper focuses on geneticists Salvador Armendares's and Rubén Lisker's studies from the 1960s to the 1980s, to explore how their work fits into the post-1945 human biological studies, and also how the populations they studied, child and indigenous, can be considered laboratories of knowledge production. This paper describes how populations were considered for different purposes: scientific inquiry, standardization of medical practices, and production or application of medicines. Through the narrative of the different trajectories and collaborations between Armendares and Lisker, this paper also attempts to show the contact of their scientific practices, which brought cytogenetics and population genetics together at the local and global levels from a transnational perspective.

Resumo Aborda o trabalho dos geneticistas Salvador Armendares e Rubén Lisker, entre 1960 e 1980, para analisar como se insere nos estudos biológicos humanos do pós-1945, e demonstra como as populações estudadas por eles, a infantil e a indígena, podem ser consideradas laboratórios de produção de conhecimento. O artigo revela como as populações foram consideradas para diversos propósitos: investigação científica, padronização das práticas médicas e produção ou aplicação de suas medicinas. Por meio da narrativa das diferentes trajetórias e colaborações entre Armendares e Lisker, também procura discutir o contato de suas práticas científicas, que colocaram a citogenética e a genética de populações lado a lado nos níveis local e global a partir de uma perspectiva transnacional.

Newborn Screening for G6PD Deficiency: A 2-year Data from North India.

Glucose-6-phosphate dehydrogenase (G6PD) defi ciency is the most common erythrocyte enzymopathy, being present in more than 400 million people worldwide that may lead to neonatal jaundice or hemolytic crisis due to drugs or infections. In our study, we aimed to study the frequency of G6PD defi ciency in neonates and the proportion of defi cient neonates, who developed neonatal hyperbilirubinemia in the study population. The study was an observational one, conducted at the Division of Genetics of Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, over a 2-year period from January 2011 to December 2012. A total of 6,000 newborns delivered during that period underwent newborn screening on 24-72 h of birth. Neonatal hyperbilirubinemia was presented in 13.3% of the study population. Of female neonates, 16% demonstrated G6PD defi ciency. This is worth noting for an X-linked recessive trait. Thus, in view of a high gene frequency for a disorder that is manageable with just elimination of few drugs and foodstuff, we stress the need for a newborn screening program for G6PD deficiency.

G6PD deficiency in Latin America: systematic review on prevalence and variants

Plasmodium vivax radical cure requires the use of primaquine (PQ), a drug that induces haemolysis in glucose-6-phosphate dehydrogenase deficient (G6PDd) individuals, which further hampers malaria control efforts. The aim of this work was to study the G6PDd prevalence and variants in Latin America (LA) and the Caribbean region. A systematic search of the published literature was undertaken in August 2013. Bibliographies of manuscripts were also searched and additional references were identified. Low prevalence rates of G6PDd were documented in Argentina, Bolivia, Mexico, Peru and Uruguay, but studies from Curaçao, Ecuador, Jamaica, Saint Lucia, Suriname and Trinidad, as well as some surveys carried out in areas of Brazil, Colombia and Cuba, have shown a high prevalence (> 10%) of G6PDd. The G6PD A-202A mutation was the variant most broadly distributed across LA and was identified in 81.1% of the deficient individuals surveyed. G6PDd is a frequent phenomenon in LA, although certain Amerindian populations may not be affected, suggesting that PQ could be safely used in these specific populations. Population-wide use of PQ as part of malaria elimination strategies in LA cannot be supported unless a rapid, accurate and field-deployable G6PDd diagnostic test is made available.

Detection of Partial G6PD Deficiency using OSMMR2000-D Kit with Hb Normalization

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency worldwide including Malaysia. Screening of cord blood for partial G6PD deficiency is important as they are also prone to develop acute haemolysis. In this study, we determined the prevalence of partial G6PD deficient in paediatric population aged 1 month-12 years and normal term female neonates using OSMMR-D kit with haemoglobin (Hb) normalization and compare it with florescence spot test (FST). A total of 236 children, aged between between 1 month-12 years and 614 normal term female neonates were recruited for this study. Determination of normal means for G6PD activity and; cut-off points for partial and severe deficiency were determined according to WHO Working Group (1989). Determination of prevalence for partial deficiency for both groups (female patient) was done using this enzyme assay kit and findings were compared with FST. In this study, 15.7% (18/115) female children were classified as partial G6PD deficient by quantitative enzyme method (G6PD activity: 4.23-5.26U/gHb). However, FST only detected 0.9% (1/115) with minimal G6PD activity. The prevalence of partial G6PD deficiency in female neonate group was 3.42% (21/614) by enzyme assay versus 0.49% (3/614) by FST. This study concluded that our routine screening method using FST was unable to diagnose female heterozygotes. We recommend using this quantitative enzyme assay method by OSMMR-D kit since it was more sensitive in detecting G6PD deficiency in female neonates compared to FST.

Glucose-6-phosphate dehydrogenase deficiency disease:current status / 国际儿科学杂志

Glucose-6-phosphatedehydrogenase( G6PD) is the main regulatory enzyme of pentose-phos-phate pathway,which plays an important role in maintaining the balance of cell energy and redox reactions in the cell. G6PD deficiency is the most common hereditary erythrocyte enzyme deficiency disease. There are no effective treatments for the disease. Currently,the key of control and treatment is to make a definitive diagnosis in time and keep away from related risk factors of the disease. At present,the main clinical diagnostic method is the detection of G6PD enzyme activity,but it is limited in accuracy of detecting the heterozygote females. It has already been confirmed at home and abroad that G6PD heterozygote is a risk factor of neonatal hyperbilirubi-nemia. Thus,the detection method of different genotypes of G6PD deficiency at the same time is urgently needed in clinical diagnosis. This paper reviews on recent research progress of the G6PD deficiency disease.

Atividade de glicose-6-fosfato desidrogenase (G6PD) em membros de povos de terreiros de umbanda na cidade de Teresina, Piauí / Activity of glucose-6-phosphate dehydrogenase (G6PD) in members of umbanda temple in Teresina city, Piauí (Brazil)

Nos eritrócitos deficientes de G6PD, a diminuição da redução do NADP em NADPH leva a um baixo potencial redutor que interfere na capacidade metabólica oxidativa do organismo, ficando vulneráveis a hemólise, podendo levar a crises hemolíticas de intensidade variável. Devido a considerável prevalência da deficiência de G6PD na população brasileira, os maiores índices ocorrem em populações com ancestralidade africana. A presente pesquisa teve como objetivo estudar a atividade da G6PD em povos de terreiro de umbanda na cidade de Teresina. A pesquisa foi do tipo descritiva, exploratória e quantitativa. A amostra foi representada por indivíduos frequentadores de terreiro, no período entre setembro a dezembro de 2011, envolvendo 62 pessoas. A atividade da G6PD foi determinada utilizando-se o kit de G6PD D+ NeoLISA – INTERCIENTÍFICA, método enzimático colorimétrico para determinação quantitativa da atividade da G6PD. O estudo envolveu 62 indivíduos de ambos os sexos, com idades que variam dos 10 anos aos 80 anos, com uma média de 38 anos. Evidenciou-se a presença de 6,5% da população com a atividade da glicose-6-fosfato desidrogenase abaixo dos valores normais. Em relação ao sexo, o estudo encontrou uma prevalência de 4,8% nas mulheres e 10% nos homens. A soma da porcentagem de negros e pardos foi de 95%. A falta de conhecimento entre os participantes sobre a deficiência de G6PD foi de 100%. Os dados refletem que os terreiros são frequentados principalmente afrodescendentes, demonstrando forte relação com a sua ancestralidade e principalmente por sua preservação.

In G6PD-deficient erythrocytes, the decreased rate of reduction of NADP to NADPH leads to a low reducing potential that interferes with the oxidative metabolic capacity of the cells. These RBCs are susceptible to hemolysis, which can lead to hemolytic crises of varying intensity. There is a considerable prevalence of G6PD deficiency in the population, the highest rates occuring in populations of African descent. The aim of the present study was to investigate the activity of G6PD in people frequenting two Umbanda yards in the city of Teresina. The research was descriptive, exploratory and quantitative. The sample consisted of individuals who visited the yard (house temple) in the period between September and December 2011, totaling 62 people. Their G6PD activity was assayed with the Intercientífica Neolisa G6PDH kit, an enzymatic colorimetric method for this purpose. The study population included both sexes, with ages ranging from 10 to 80 years (mean 38 years). It was found that in 6.5% of the population, all of whom were described as black, the activity of glucose-6-phosphate dehydrogenase was below normal. Regarding gender, there was a prevalence of 4.8% of the women with deficient erythrocytes and 10% of the men. The sum of the people described as black and brown formed 95% of the group. The lack of knowledge among participants about G6PD deficiency was 100%. The data reflect that the Umbanda yards are frequented mainly by people of African descent, demonstrating a strong relationship with their ancestry, and mainly for the preservation of their beliefs and culture.

Prevalence of G6PD deficiency versus oxidizing drugs: a survey in the tertiary care hospital.

Background: G6PD deficiency is distributed worldwide including India and is involved in accidental hemolysis and anemia by inadvertent use of oxidizing drugs. Awareness of community wise occurrence of G6PD deficiency can help in screening beforehand. Methods: On 150 community wise classified, non-anemic, non- hemolysed (in recent past) visitors of pathological laboratory attached to C U Shah Medical College, Surendranagar, Gujarat, Crayman’s hemoglobin colorimetric kit (item no 700540) was used to estimate normal or below normal status of G6PD. Results: 10 people (6.6% of population) were found deficient – 7 (4 male + 3 female) from Harijan community, 2 (1 male + 1 female) from Rabbari community and 1 (1 male + 0 female) from Lohana community. Conclusions: While applying oxidizing drugs in a person of Harijan community (prevalence 7 out of total 26, i.e. 27%), extra caution is required, esp. if a person otherwise vulnerable (e.g. alcoholic). For other less represented communities, larger stratified sampling is required.

Perioperative challenges in a patient of severe G6PD deficiency undergoing open heart surgery.

We describe a successful perioperative management of a case of 38-year-old male, presented with chronic jaundice with severe mitral stenosis and moderate tricuspid regurgitation; upon evaluation, he was found to have severe glucose-6-phosphate dehydrogenase (G6PD) deficiency. Usually, patients deficient in G6PD exhibit increased hemolysis andtherefore increased need for blood transfusion after cardiac surgery as well as impaired oxygenation in the postoperative period leading to prolonged ventilation. On reperfusion after a period of ischemia, the antioxidant system recruits all of its components in an attempt to neutralize the overwhelming oxidative stress of free radicals, as the free radical scavenging system is deficient in these patients, the chances of free-radical-induced injury is more. Our patient underwent mitral valve replacement and tricuspid annuloplasty under cardiopulmonary bypass with necessary precautions to reduce the formation of free radicals. Treatment was targeted toward theprevention of free radical injuryin the G6PD-deficient patient. He had an uneventful intraoperative and postoperative course.

Red Blood Cell Enzymopathies Causing Hereditary Hemolytic Anemia / 임상소아혈액종양

The RBC enzyme deficiencies causing hereditary hemolytic anemia (HHA) can be divided into three groups: those participating in the glycolytic (E-M) pathway; those involved with the maintenance of a high ratio of reduced to oxidized glutathione; one enzyme in the nucleotide degradation and salvage pathway. Although RBC enzyme deficiencies causing HHA are rare, 3 of the 15 kinds of important and relatively frequently reported enzyme deficiencies such as pyruvate kinase, glucose-6-phosphate-dehydrogenase and pyrimidine-5'-nucleotidase deficiencies are briefly reviewed. The molecular genetics, clinical symptoms, diagnosis and therapeutic approaches of each enzyme deficiencies are summerized. As these enzyme deficiencies are reported throughout the world as well as in Korea with the identification of the mutations, considering a broad spectrum of etiologies for the diagnosis of HHA seems to be warranted.

Red Blood Cell Enzymopathies Causing Hereditary Hemolytic Anemia / 임상소아혈액종양

The RBC enzyme deficiencies causing hereditary hemolytic anemia (HHA) can be divided into three groups: those participating in the glycolytic (E-M) pathway; those involved with the maintenance of a high ratio of reduced to oxidized glutathione; one enzyme in the nucleotide degradation and salvage pathway. Although RBC enzyme deficiencies causing HHA are rare, 3 of the 15 kinds of important and relatively frequently reported enzyme deficiencies such as pyruvate kinase, glucose-6-phosphate-dehydrogenase and pyrimidine-5'-nucleotidase deficiencies are briefly reviewed. The molecular genetics, clinical symptoms, diagnosis and therapeutic approaches of each enzyme deficiencies are summerized. As these enzyme deficiencies are reported throughout the world as well as in Korea with the identification of the mutations, considering a broad spectrum of etiologies for the diagnosis of HHA seems to be warranted.

Effects of Vitamin E Supplementation on Reducing Chronic Hemolysis in Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency.

Background: Vitamin E works within the cell membrane as an antioxidant and may prevent destruction of RBC in G6PD deficient hemolytic anemia, which can be reflected by changes in peripheral blood film. Objective: To observe the role of vitamin E supplementation on restoring normal cell types in peripheral blood film in order to evaluate the role of this antioxidant vitamin in reducing chronic hemolysis in G6PD deficient patients. Method: Total 102 subjects, age range from 5-40 years of both sexes were included in the study. Among them 68 were G6PD enzyme deficient patients, of whom 34 were in non-supplemented group (Group B) and 34 were in supplemented group (Group C). Both group B and C were divided into Group B1 and C1 (on day 1 ) and also into B2 and C2 (on day 60) respectively. Supplemented group received vitamin E supplementation for 60 consecutive days (800 IU/day for adult and 400 IU/day for children in a divided dose i,e. 4 times daily). Age and sex matched 34 apparently healthy subjects with normal G6PD level (Group A) were also taken to observe baseline data. Determination of Erythrocyte G6PD level and preparation of peripheral blood film were done on day 1 for all groups and also on day 60 in deficient groups. Results: Percentage of subjects with presence of some abnormal red cells in peripheral blood film was significantly higher in patients of hemolytic anemia with G6PD deficiency in comparison to that of healthy control. After supplementation with vitamin E (i,e. on day-60) this percentage was significantly decreased towards those of healthy control in their supplemented group in comparison to that of pre-supplemented (day-1) and nonsupplemented groups. Conclusion: Some abnormal red cells may be found in peripheral blood film of G6PD deficient patients, improvement of which occur following vitamin E supplementation, and thereby indicates role of this antioxidant vitamin in reducing the rate of hemolysis.

Reduced Vision with Erythrocyte G6PD Enzyme Status Among The School Children of Dhaka City.

Background: Globally more than 123 million people have impaired visual status due to reduced vision (visual acuity <6/6m) and many of them results into complete or partial blindness. The situation is more crucial in case of children whose reduced vision is usually remain undetected. Apparently healthy children with reduced vision may also found with asymptomatic erythrocyte G6PD enzyme deficiency. Objective: This study has been designed to detect the presence of reduced vision among apparently healthy school children of Dhaka city and also to measure their erythrocyte G6PD enzyme level. Method: This cross sectional study was carried out in the Department of Physiology, Sir Salimullah Medical College (SSMC) during the period of 2007-2008. For this purpose 500 children irrespective of sex and aged 6 to 12 years was selected as study population from different schools of Dhaka city. Children were grouped according to their visual status using Snellen’s letter chart (1862). Erythrocyte G6PD enzyme was measured by Spectrophotometric method. Children with normal visual acuity (6/6m) were grouped as group- A (control) and those with reduced visual acuity (<6/6m) were in group B. Erythrocyte G6PD enzyme level was measured and compared between the groups. Results: Statistically significant (p<0.05) number of children (12.8%) were detected to have reduced vision when compared with that of normal vision. Reduced vision was present in most of the male children & it was bilateral type of reduced vision. Mean erythrocyte G6PD enzyme level was almost similar in both groups and no significant (p>0.05) difference was observed when compared between them. Conclusion: This study revealed that reduced vision may present in apparently healthy children. So, earlier detection of reduced vision can help to minimize the visual complications in childhood age. This study also revealed that there is no association between reduced vision and G6PD enzyme deficiency.

Frequencies of some human genetic markers and their association with Plasmodium falciparum malaria in the Niger Delta, Nigeria.

Background & objectives: There is paucity of information on the association between Plasmodium falciparum malaria and some human genetic markers in the Niger Delta region of Nigeria. Hence, a study was undertaken in children to assess the current level of subclinical malaria due to P. falciparum. Methods: Blood groups ABO and Rhesus factor, haemoglobin electrophoretic pattern, G-6-PD deficiency status and malaria were determined among 240 apparently healthy children in a crosssectional descriptive study using standard procedures. Results: The prevalence of P. falciparum malaria in this region was high (27.5%). Blood group O (51.3%) dominated the study population, followed by B (23.8%), A (21.3%), and AB (3.8%). Rhesus D positive accounted for 91.3% while Rh D negative was 8.7%. Sickle-cell trait (HbAS) prevalence was 12.5% while HbAA accounted for 87.5%. In all, 5.42% of the children were G-6- PD deficient while 94.58% had normal G-6-PD status. Chi-square analysis revealed that only blood group O and Rh D negative had a significant association with P. falciparum malaria (2= 4.3636, p <0.05 and 2 = 5.760, p <0.02 respectively). No significant association was found to exist between P. falciparum malaria and other genetic markers. Conclusion: This study has provided the current prevalence rates of some genetic markers in a malaria endemic region of Niger Delta, Nigeria. Of all the genetic markers tested, only Blood group O and Rh D negative had significant and positive associations with P. falciparum infection.

Neonatal screening program for G6PD deficiency in India: Need and feasibility.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic disorder affecting approximately 400 million people worldwide. In India, 390,000 children are born annually with this disorder causing significant morbidity and mortality in childhood. A National Neonatal Screening program for presumptive screening of all neonates using modified Formazan ring test method could be introduced. The test requires blood sample obtained using simple heel prick in the first 48 hours of life, and can be carried out using basic laboratory equipment and reagents. The screening program could be introduced in all institutional deliveries at tertiary hospitals in the major metropolitan cities and then gradually scaled up to cover institutional deliveries over the entire country. After field trials, the program can be expanded to cover home deliveries as well. Increased funding for the health sector under the National Rural Health Mission can provide the required financial support to the program.

Sickle Cell Haemoglobin, Thalassaemia and G-6-PD Enzyme Deficiency Genes in Garasiya Tribe Inhabited Malaria Endemic Areas of Sirohi District, Rajasthan (India).

Venous blood samples of 368 apparently healthy and unrelated adult individuals (both male and female) belonging to a primitive tribe, Garasiya inhabitating malaria hyperendemic areas of Sirohi district, Rajasthan (India) were investigated by standard and recommended techniques for evidence of erythrocyte genetic disorders; sickle cell haemoglobin, b-thalassaemia syndromes and glucose-6-phosphate dehydrogenase (G-6-PD) enzyme deficiency (Gd). Sickle cell genes encountered in 23 (6.25%) Garasiya tribals. Of these, 22 (5.97%) showed heterozygous sickle cell gene(Hb-AS or trait) and one (0.27%) homozygous form (Hb-SS or sickle cell disease). b-thalassaemia syndromes were observed in 30(8.15%) subjects; 28(7.60%) b-thalassaemia traits (b-thal.) and 2(0.54%) HbS-thalassaemia (HbS-thal.). Gd was found in 56 (15.21 %) subjects. Except these mutant genes no other erythrocyte abnormal genes were encountered in Garasiya tribe. A high incidence or prevalence of these red cell mutant genes in relation to malaria is discussed in the present communication.