Evaluation of a micromethod for detection of G-6-PD deficiency

A simple and inexpensive micromethod based on methaemoglobin reduction technique (MRT) for screening of glucose-6 phosphate dehydrogenase deficiency has been studied using reagent-impregnated curvettes incubated in a makeshift waterbath. The cuvettes shelf life has been tested upto nine months. As the test can be done with finger prick blood, it promises to be more acceptable in the field. The sensitivity of this is similar to classical MRT.     

On the relation between malaria and G-6-PD deficiency

On the basis of the hypothesis that in the regions where favism is present a high correlation exists between endemic malaria and the frequency of G-6-PD deficiency, Huheey and Martin (1975) in a recent paper suggest that the haemolytic event in a malarial environment is a favourable selective factor. Therefore, the fitness of the G-6-PD-deficient individual who shows haemolysis is higher than that of those who do not show haemolysis. Modiano (1976) also suggested that haemolysis may not be a negative component of the selective forces which act on the G-6-PD-deficient variants.

In this paper, some facts which make these hypotheses unlikely are considered. Other, more promising, lines for the analysis of the complex relation between malaria and G-6-PD deficiency are suggested.

In Sardinia and in the area of the Po Delta, even though favism is present, there is a very low correlation between the frequency of G-6-PD deficiency and past malarial morbidity. Therefore, the situation is similar to that observed in other parts of the world, in which malaria is highly endemic, but where favism is absent.

The following facts seem to be in contrast with the possibility that haemolysis could `by itself' be a favourable event: (1) In the hemizygous male, haemolysis due to favism is generally severe and there is a high mortality rate; (2) In the heterozygous female, the erythrocytes with G-6-PD deficiency seem to show a low parasite rate compared to normal cells, and it is just these erythrocytes that are destroyed during the haemolytic crisis; (3) In malarial environments, enzymopenic variants associated with continuous haemolysis have not been selected. A positive selection of such variants would be expected if haemolysis was `by itself' a positive factor.

Several observations suggest that the G-6-PD system interacts with various factors, both genetical (thalassaemia, erythrocyte acid phosphatase, adenosine deaminase) and environmental (Vicia Faba, altitude, viral and protozoal diseases). In a malarial environment, therefore, the fitness of the different G-6-PD genotypes depends on numerous variables. This could explain the low correlation generally observed between the degree of malarial endemicity and the frequency of G-6-PD deficiency.

Further analysis of the above interactions could elucidate the mechanisms which have brought about the selection of certain types of enzymopenic variants in malarial regions.

     

Abnormal haemoglobins, thalassaemia and G-6-PD enzyme deficiency in Rajasthan (western-India).

Venous blood samples of 2922 apparently healthy individuals (both male and female) belonging to four scheduled tribes (408 Bhil, 340 Damor, 190 Garasia, and 186 Mina), five scheduled castes (108 Meghwal, 93 Labana, 86 Mochi, 76 Garg, and 58 Yadaw) and eleven general castes (215 Baniya, 156 Brahmin, 153 Muslim, 130 Patel, 128 Bohra-Muslim, 122 Suthar, 115 Patidar, 112 Rajput, 92 Bhoi, 92 Sompura, and 62 Panchal) of the Dungarpur district of Rajasthan state were investigated by standard techniques for evidence of erythrocyte genetic disorders, abnormal haemoglobins, thalassaemia syndromes, and G-6-PD enzyme deficiency (Gd). Abnormal haemoglobins were encountered in 122 (4.17%) subjects. Of these, 93 (3.18%) were Hb-AS, 14 (0.47%) Hb-SS, 12 (0.41%) Hb-AD, 2 (0.06%) Hb-AE, and 1 (0.03%) Hb-SC. A higher incidence of these mutant genes was found in scheduled tribes (6.85%) as compared to scheduled castes (3.08%) and general castes (2.32%). Beta-thalassaemia syndromes were encountered in 111 (3.79%) subjects; 96 (3.28%) beta-thalassaemia traits, 13 (0.44%) HbS-thalassaemia, and 2 (0.06%) HbD-thalassaemia. Gd was found in 329 (11.25%) subjects. Of these, 203 (18.06%) belonged to scheduled tribes, 39 (9.26%) to scheduled castes, and 87 (6.31%) to general castes. In our present communication, the incidence and interaction of these mutant genes in different ethnic groups of scheduled tribes (S.T.), scheduled castes (S.C.), and general castes (G.C.) are discussed. Furthermore, their distribution in various ethnic groups residing in different districts of Rajasthan state (Western-India) is also reviewed.     

新生儿高胆红素血症G6PD缺乏症筛查及临床意义

目的探讨葡萄糖6磷酸脱氢酶（G6PD）缺乏与新生儿高胆红素发生率及发病时间的关系,为高胆的临床诊断及治疗提供科学依据。方法对2008年1月至2009年12月在韶关市妇幼保健院分娩的活产新生儿采用荧光斑点法对其进行G6PD筛查,对G6PD缺乏的患儿,按姓别分组调查其高胆发生率及发病时间。结果 G6PD缺乏的患儿高胆发生率显著高于对照组新生儿;男性高胆发生率显著高于女性;G6PD缺乏的患儿的发病时间主要在生后一用周内。结论 G6PD缺乏为新生儿高胆的重要病因,发病率男性高于女性,发病高峰在出生2～4天,对G6PD缺乏的高胆患儿进行早期干预,能有效减轻G6PD缺乏新生儿溶血的程度和避免发生核黄疸。     

Hematological profile of twenty-nine tribal compound cases of hemoglobinopathies and G-6-PD deficiency in rural Orissa

Background: Hematogenetic disorders are commonly encountered in Orissa state in Central-Eastern India. Hemoglobinopathies and G-6-PD deficiency are the most frequently occurring hereditary hemolytic disorders causing high morbidity and mortality in vulnerable people. Aims: There is no study available reporting combined condition of hemoglobinopathies and G-6-PD deficiency in a single individual from India. This study aims to assess the coincidence of G-6-PD enzyme deficiency with different hemoglobinopathies and beta-thalassemia and to evaluate the influence of combined conditions on the hematological expression. Settings and Design: The study was carried out in rural Orissa with a random sampling procedure. Materials and Methods: Following the standard methodology and techniques, this study highlights 29 tribal cases of compound occurrence of hemoglobinopathy with G-6-PD deficiency in a randomly conducted study in Sundargarh district of Orissa. Statistical Analysis: Results were subjected to statistical analysis. Results: Both female heterozygotes and homozygotes of G-6-PD deficiency in association with different hemoglobinopathies showed reduced values of hematological indices: hemoglobin level, MCV, MCH, MCHC and RBC in comparison to normals. Red cell indices were found further reduced in male G-6-PD deficiency concurrence with hemoglobinopathies in homozygous condition, i.e. sickle cell disease (HbSS) or hemoglobin E disease (HbEE). Hematological indices were significantly lower except WBC counts and fetal hemoglobin in male G-6-PD deficiency with co-existing homozygous sickle cell disease in comparison with counterpart sickle cell trait and normal controls. Conclusions: Hemoglobin polymorphism with G-6-PD deficiency is advantageous to the community against lethal effects of malaria especially against Plasmodium falciparum at population level, but their combination is harmful at the individual level because of low levels of red cell indices to cope with the routine human physiology.     

Physiological values of glucose-6-phosphate-dehydrogenase (G-6-PD) in chorionic villi

The physiological activity values of glucose-6-phosphate dehydrogenase (G-6-PD) from chorionic villi homogenized in Triton X was evaluated. The frozen, non-cultivated chorionic samples were obtained from artificial abortion in an early period of gestation (6-11 weeks). The mean G-6-PD activity was 0.43 U/mg protein. The G-6-PD enzyme activity showed no correlation with the week of gestation.     

云浮地区2183例新生儿G-6-PD缺乏症的结果分析

目的 探讨云浮地区新生儿葡萄糖-6-磷酸脱氢酶（G-6-PD）缺乏症的患病情况。方法 采用G-6-PD/6-PGD定量比值测定法检测2 183例新生儿的红细胞G-6-PD活性。结果 本地区总患病率为7.19%（157/2183）,其中男性患病率为10.4%,女性为2.89%。结论 本地区为新生儿G-6-PD缺乏症的高发区,男性患者明显高于女性。     

A clinical and serologic survey of bejel in north Burkina Faso

A clinical and serological survey of endemic syphilis was carried out during March 1986 in a sahelian area of North Burkina Faso. Differences were found in the prevalence rate of clinical lesions and serological positivities between the children of different ethnic groups. For all the survey, 7.5% of the 5-14 years old children had clinical lesions and 22% had antibodies against Treponema. These rates were 3% and 41% among the adults. The results of this survey were strikingly near of those of a survey carried out 5 years before in the same area. Endemic syphilis appeared highly stable.     

Prevalence of Hepatitis C virus infection in pregnant women and mother-child transmission in Ouagadougou, Burkina Faso

The aim of our study was to estimate the prevalence of Hepatitis C virus (HCV) among pregnant women and the rate of mother-child transmission. Over one month (April 26 to May 25, 2002) blood samples of 200 pregnant women who gave birth at the maternity of the university hospital and Gounguin center medical of Ouagadougou were tested for anti-HVC antibodies (Ac HCV) and anti HIV antibodies (Ac HIV). Infants born to mother tested positive for Ac HCV and their mother were tested for HCV-RNA. The prevalence of HCV (positive Ac HCV and HCV-RNA) was 2% in pregnant women (4/200). One case of mother-child transmission was found. The virus transmitted was 2a (A/C) genotype. The mother had a high titre of HCV-ARN, was co-infected by HIV and had had history of blood transfusion, excision and tattoo of the gums.     

Conidiobolomycosis, a rare fungal tumor: a case report in Ouagadougou, Burkina Faso

Conidiobolomycosis is a deep, rare mycosis, due to Conidiobolus coronatus which is a saprophyte of vegetation in decomposition. We report one case in Burkina Faso. A 17 years old man, shepherd, consulted for tumefactions on the face. It could date back insidiously to a traumatism, one year before. A month later some painless tumefactions appeared on the cheekbone, the right eyelid, the nose with epistaxis. The upper lip then the lower one had swollen. Dermatological exam revealed multiple, painless, hard, sub-cutaneous swellings, affecting the cheekbone, the eyelids, the root and the ala of the nose. This tumefaction sometimes adhered to underlying tissues and to the overlying skin, sometimes mobile; painless and hard swelling of the two lips was also noted. ENT exam showed an inflammation of the nasal mucous without ulceration and the permeability of the nasal tracts was subnormal. The cephalic tomodensitometry showed a thickness of the soft tissues of the lips and the nose with an infectious feature associated to a pansinusitis without bone lesion. Histology was in favour of conidiobolomycosis. The patient was treated with fluconazole and the swelling progressively disappeared. Conidiobolomycosis is a disease generally reported in some humid tropical countries. It begins in the nasal cavities leading then to a nasal obstruction. This case was singular by the fact it happened in a dry Sudano-Sahelian climate and by its clinical features.     

Mosaicism in female hybrid hares heterozygous for glucose-6-phosphate dehydrogenase (G-6-PD): II. Changes in the ratios of G-6-PD types in skin fibroblast cultures carried through multiple passages

Skin fibroblast cultures from hybrid hares (Lepus europaeus × Lepus timidus) exhibiting glucose-6-phosphate dehydrogenase (G-6-PD) mosaicism were followed for varying numbers of transfers. The majority of cultures either changed systematically in the ratio of G-6-PD variants, or exhibited, at some transfer, one type only. Changes occurred in both directions: toward higher T:E ratios or toward lower T:E ratios. Some cultures shifted from the apparent monotypic state to the ditypic state (usually from monotype T), suggesting that the apparent monotypes sometimes contain type E cells which fail to be detected, either due to limitations of assay sensitivity or to cytoplasmic factors of varying activity or concentration. The results are somewhat similar to those found in skin fibroblast cultures of heterozygous black female G-6-PD mosaics, and suggest the presence of factors, in one or the other of the X chromosomes, conferring a selective advantage on the cells of the corresponding type.     

Malaria in a holoendemic area of Burkina Faso: a cross-sectional study

A malaria survey of the entire population of a village in Western Burkina Faso (n=1,561) was conducted to assess malaria endemicity. The study population was examined for symptoms characteristic of malaria including fever, anaemia, splenomegaly and parasites present in thick blood films. In the overall study population, the prevalence of Plasmodium spp. infection by microscopic examination of thick blood films was 79.0% (1,233/1,561). In a subcohort with 201 individuals, PCR techniques found a prevalence rate for all Plasmodium spp. of 92.0% (185/201), while microscopy found one of 80.6% (162/201). A combination of both methods gives a rate of 95.5% (192/201). Though univariate logistic analyses of elevated body temperature, anaemia, splenomegaly and age showed them all to be predictors of or risk factors for an infection, only elevated body temperature and age were predictors in multivariate logistic analysis. However, the symptom of splenomegaly did show a highly significant association with infection by multiple species of Plasmodium.     

Mosaicism in female hybrid hares heterozygous for glucose-6-phosphate dehydrogenase (G-6-PD): III. Changes in the ratios of G-6-PD types in skin fibroblast cultures exposed to 25-hydroxycholesterol

In this study fibroblast cultures from the skin of 11 hybrid female hares that were heterozygous for glucose-6-phosphate dehydrogenase (G-6-PD) were grown in a standard culture medium containing successively increasing concentrations of 25-hydroxycholesterol. The hare cross was between Lepus timidus (T) females and Lepus europaeus (E) males. In cultures from 8 of the 11 hares there was a significant shift of T:E ratios toward E with increasing concentrations of 25-hydroxycholesterol. In 3 hares, some cultures with the higher concentrations of additive became phenotypically 100% E. The change of T:E ratios towards E appeared to occur because the 25-hydroxycholesterol was more toxic for the T-type cell. The results in this study contrast with those in a previous study of skin fibroblasts which include these same 11 hares. In the earlier study the fibroblasts were carried through multiple passages in the same standard medium used herein (but with no 25-hydroxycholesterol added). Seven of the eleven eventually exhibited only T-type cells. In 2 there was significant movement toward E but neither showed only E in any passage. The responses of the cells are presumably on a genetic basis. It is interesting but not expected that gene expressions enhancing survival and growth in one cellular environment can do the opposite in another.