Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In view of the high prevalence of clinical cases of sickle cell anemia, hemoglobin-H-disease and glucose-6-phosphate dehydrogenase deficiency in the archipelago of the State of Bahrain, a cord blood screening study was undertaken over a 15 month period (October 1984 to December 1985) to determine the gene frequency of these diseases. All the state hospitals participated in this study and a total of 10,327 cord blood samples obtained from babies born to Bahraini parents were analyzed. These presented over 80% of all neonates born in the country during the study period. The phenotypes detected included: AF, AF-Barts, SFA and SFA-Barts. Homozygous sickle cell disease was detected in 2.1%, and in 11.2%, the sickle cell trait was present. The incidence of alpha-thalassemia gene based on elevated Bart's hemoglobin was 24.3% in these neonates. The incidence of G6PD-deficiency was as high as 20.9%. Availability of these statistics has enabled the authorities in the Ministry of Health in collaboration with the National Hereditary Anemia Society to plan a comprehensive health care program for patients with hereditary diseases and their families.
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PMID:Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in hospital births in Bahrain. 1758 43

Anemia is a common complication in malarial infection, although the consequences are more pronounced with Plasmodium falciparum malaria (Ghosh, Indian J Hematol Blood Tranfus 21(53):128-130, 2003). Anemia in this infection is caused by a variety of pathophysiologic mechanisms, and in areas where malaria infection is endemic, co-morbidities like other parasitic infestations, iron, folate and Vitamin B12 deficiency, deficiency of other nutrients, and anemia, which is aggravated by anti-malarial drugs both through immune and non-immune mechanisms, are important considerations. In different endemic areas, beta-thalassemia, alpha-thalassemia, Hb S, Hb E, G6PD deficiency, or ovalocytosis in different proportions interact with this infection. Finally, aberrant immune response to repeated or chronic falciparum malarial infection may produce tropical splenomegaly syndrome, a proportion of which show clonal proliferation of B lymphocytes. Cooperation between chronic malarial infection and infection with E-B virus infection in producing Burkitt's lymphoma is well known. In this review, the fascinating and multifaceted pathophysiolgoy of malarial anemia has been discussed.
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PMID:Pathogenesis of anemia in malaria: a concise review. 1787 26

Severe complications of lower respiratory tract infection in a patient with hereditary glucose-6-phosphate dehydrogenase (G-6-PD) deficiency may occur. The case of a 68-year-old man with hereditary glucose-6-phosphate dehydrogenase (G6PD) deficiency who developed severe haemolysis after community-acquired pneumonia is presented. G6PD deficiency in our patient was diagnosed during childhood. We observed complications of community-acquired pneumonia: empyema, haemolytic crisis and renal failure. Videopleuroscopy and pleural drainage were successfully performed. Community-acquired streptococcal pneumonia may also lead to haemolysis in G6PD deficient patients. Acute haemolysis, severe anaemia and renal insufficiency secondary to haemoglobinuria can be observed. Severe purulent complications of pneumonia in G6PD deficient patients may suggest granulocyte function impairment.
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PMID:Community-acquired pneumonia complications in a patient with hereditary glucose-6-phosphate dehydrogenase deficiency. 1796 6

Hepatitis E virus is one of the leading causes of acute viral hepatitis in India but usually manifests as a mild self-limiting illness. Viral hepatitis in the presence of glucose-6-phosphate dehydrogenase (G6PD) deficiency may be associated with complications such as severe anemia, hemolysis, renal failure, hepatic encephalopathy and even death. The incidence of G6PD deficiency in the general population of northern India is reported to be between 2.2% and 14%. Despite both hepatitis E infection and G6PD deficiency being common, their impact on patient illness has only recently been reported. The present study reports a case of severe hemolysis in a patient with G6PD deficiency and hepatitis E infection.
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PMID:Case report: Acute hepatitis E infection with coexistent glucose-6-phosphate dehydrogenase deficiency. 1815 62

We report two children with hemolytic anemia during the course of hepatitis A infection. On admission, the patients had high blood urea nitrogen, creatinine, and uric acid levels, as well as anemia, leucocytosis, and direct and indirect hyperbilirubinemia. Both patients had a glucose-6-phosphate dehydrogenase deficiency (G6PD) and autoimmune antibodies. They were given vitamin K on admission. Inadvertent administration of vitamin K could have been related to an acute reduction in hemoglobin concentration. To prevent renal damage, plasmapheresis with fresh frozen plasma was done to clear bilirubin and plasma hemoglobin. The hyperbilirubinemia responded to plasmapheresis. However, acute tubular necrosis complicated the clinical course in one patient, and several sessions of hemodialysis were required. In conclusion, intravascular hemolysis should be considered in patients with hepatitis A infection, marked hyperbilirubinemia, and anemia. Although hepatitis A vaccination is not yet recommended for routine administration, high-risk patients, including those with a G6PD deficiency, should be vaccinated against hepatitis A.
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PMID:Etiology of hemolysis in two patients with hepatitis A infection: glucose-6-phosphate dehydrogenase deficiency or autoimmune hemolytic anemia. 1832 Feb 20

This study investigated the extent of molecular heterogeneity of the G6PD enzyme among certain aboriginal (tribal) populations of Orissa, an eastern Indian state, which is hyperendemic for Plasmodium falciparum malaria. A total of 3480 males from 14 tribal communities were screened, and 223 (6.4%) individuals were found to be G6PD deficient. Molecular analysis revealed that 59.2% of deficient individuals had the G6PD Orissa mutation and 37.2% had the G6PD Mediterranean mutation. The presence of G6PD Med has not been previously reported among the tribal populations of Orissa. Interestingly, both G6PD Med and G6PD Orissa were found among communities belonging to the Mundari (Austroasiatic) linguistic group, while G6PD Med was exclusive to Dravidian and G6PD Orissa to Indo-Aryan groups. Erythrocytic G6PD enzyme activity was severely reduced in the case of G6PD Med type (0.64-1.1 IU/g Hb) as well as among the uncharacterized samples, but was moderate in G6PD Orissa type (1.2-3.1 IU/g Hb). Anaemia was moderate among the individuals with G6PD Med mutation and mild among individuals with G6PD Orissa mutations. The prevalence of G6PD deficiency as well as molecular variants of the Gd- gene is highly heterogeneous among the tribal population of Orissa. The high endemicity of P. falciparum malaria has probably selected two different molecular variants of Gd- at different points in time, which is discussed.
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PMID:Molecular variants of G6PD deficiency among certain tribal communities of Orissa, India. 1856 99

The oxidative status of cells is determined by the balance between pro-oxidants and antioxidants. Pro-oxidants, referred to as reactive oxygen species (ROS), are classified into radicals and nonradicals. The radicals are highly reactive due to their tendency to accept or donate an electron and attain stability. When cells experience oxidative stress, ROS, which are generated in excess, may oxidize proteins, lipids and DNA - leading to cell death and organ damage. Oxidative stress is believed to aggravate the symptoms of many diseases, including hemolytic anemias. Oxidative stress was found in the beta-hemoglobinopathies (sickle cell anemia and thalassemia), glucose-6-phosphate dehydrogenase deficiency, hereditary spherocytosis, congenital dyserythropoietic anaemias and Paroxysmal Nocturnal Hemoglobinuria. Although oxidative stress is not the primary etiology of these diseases, oxidative damage to their erythroid cells plays a crucial role in hemolysis due to ineffective erythropoiesis in the bone marrow and short survival of red blood cells (RBC) in the circulation. Moreover, platelets and polymorphonuclear (PMN) white cells are also exposed to oxidative stress. As a result some patients develop thromboembolic phenomena and recurrent bacterial infections in addition to the chronic anemia. In this review we describe the role of oxidative stress and the potential therapeutic potential of anti-oxidants in various hemolytic anemias.
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PMID:The role of oxidative stress in hemolytic anemia. 1899 47

Allergen Inc has launched Aczone, a topical gel formulation of the antibacterial, anti-inflammatory agent dapsone, for the potential treatment of acne vulgaris. Oral dapsone has demonstrated efficacy in acne, but was associated with severe side effects such as anemia, which was particularly serious in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Aczone was developed to overcome this limitation, and is formulated using solvent-microparticle technology for improved absorption and action and for fewer side effects. In a phase I clinical trial, systemic exposure to dapsone was 126-fold lower following treatment with Aczone compared with oral dapsone. Aczone significantly reduced lesion counts in patients with acne in phase III trials, and was particularly effective in reducing inflammatory lesions. In a phase IV trial, Aczone was safely applied to patients with G6PD deficiency without inducing anemia. Phase IV trials in patients with acne were ongoing at the time of publication to assess safety and to compare Aczone monotherapy with combinations of Aczone and other anti-acne therapeutics. At the time of publication, Allergen was also developing Aczone for the treatment of rosacea; the drug was undergoing phase II trials for this indication. Aczone appears to be a novel promising anti-acne therapeutic option, particularly for patients with inflammatory acne.
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PMID:Aczone, a topical gel formulation of the antibacterial, anti-inflammatory dapsone for the treatment of acne. 1943 Oct 80

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a typical X-linked enzymopathy causing severe haemolytic anaemia in males, and mild to moderate anaemia in homozygous females. Haemolysis due to G6PD deficiency in patients with type 1 diabetes mellitus (T1DM) has been principally reported in males, but is uncommon. During the last 10 years 2 girls with an unknown incomplete G-6-PD deficiency showed haemolysis during the treatment of DKA at the onset of T1DM. We speculate that the patients here described showed haemolytic anaemia as a phenotypic expression of the lyonization process and/or an uncommon penetrance of the defective gene. Haemolysis occurred when blood glucose levels were returning to normal values. In normal red blood cells, G6PD provides a source of reducing power for maintaining sulphydryl groups (SH) and facilitating the detoxification of free radicals and peroxides. During insulin i.v. infusion the copious glucose available due to the hyperglycaemia progressively decreased and affected the old red blood cells to generate nicotinamide adenine dinucleotide (NADPH), a crucial source for energy-dependent functions. This NADPH loss could have enhanced the rate of all factors such as methaemoglobin generation, Heinz body formation, and lipid peroxidation, which occur in G6PD deficient cells in response to both endogenous and exogenous oxidants. The direct consequence of this phenomenon is an increased erytrocyte oxidant sensitivity and a loss of sulphydryl group availability causing premature red blood cell destruction.
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PMID:Haemolysis during diabetic ketoacidosis treatment in two girls with incomplete glucose-6-phosphate dehydrogenase deficiency. 1970 24

Malaria and HIV-1 are coendemic in many developing countries, with anemia being the most common pediatric hematological manifestation of each disease. Anemia is also one of the primary causes of mortality in children monoinfected with either malaria or HIV-1. Although our previous results showed HIV-1(+) children with acute Plasmodium falciparum malaria [Pf(+)] have more profound anemia, potential causes of severe anemia in coinfected children remain unknown. As such, children with P. falciparum malaria (aged 3-36 months, n = 542) from a holoendemic malaria transmission area of western Kenya were stratified into three groups: HIV-1 negative [HIV-1(-)/Pf(+)]; HIV-1 exposed [HIV-1(exp)/Pf(+)]; and HIV-1 infected [HIV-1(+)/Pf(+)]. Comprehensive clinical, parasitological, and hematological measures were determined upon enrollment. Univariate, correlational, and hierarchical regression analyses were used to determine differences among the groups and to define predictors of worsening anemia. HIV-1(+)/Pf(+) children had significantly more malarial pigment-containing neutrophils (PCN), monocytosis, increased severe anemia (Hb < 6.0 g/dL), and nearly 10-fold greater mortality within 3 months of enrollment. Common causes of anemia in malaria-infected children, such as increased parasitemia or reduced erythropoiesis, did not account for worsening anemia in the HIV-1(+)/Pf(+) group nor did carriage of sickle cell trait or G6PD deficiency. Hierarchical multiple regression analysis revealed that more profound anemia was associated with elevated PCM, younger age, and increasing HIV-1 status ([HIV-1(-) --> HIV-1(exp) --> HIV-1(+)]. Thus, malaria/HIV-1 coinfection is characterized by more profound anemia and increased mortality, with acquisition of monocytic pigment having the most detrimental impact on Hb levels.
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PMID:Hematological predictors of increased severe anemia in Kenyan children coinfected with Plasmodium falciparum and HIV-1. 2020 Oct 87


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