Glucose-6-phosphate dehydrogenase Glucose-6-phosphate dehydrogenase Pentose Phosphate Pathway ( G6PD G6PD Pentose Phosphate Pathway) deficiency is a type of intravascular hemolytic anemia Hemolytic Anemia Hemolytic anemia (HA) is the term given to a large group of anemias that are caused by the premature destruction/hemolysis of circulating red blood cells (RBCs). Hemolysis can occur within (intravascular hemolysis) or outside the blood vessels (extravascular hemolysis). Hemolytic Anemia. The condition is inherited in an X-linked recessive X-Linked Recessive Duchenne Muscular Dystrophy manner. Patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. Clinician–Patient Relationship have episodic hemolysis due to an oxidative stressor that causes damage to red blood cells Red blood cells Erythrocytes, or red blood cells (RBCs), are the most abundant cells in the blood. While erythrocytes in the fetus are initially produced in the yolk sac then the liver, the bone marrow eventually becomes the main site of production. Erythrocytes: Histology, which lack sufficient NADPH NADPH Nicotinamide adenine dinucleotide phosphate. A coenzyme composed of ribosylnicotinamide 5'-phosphate (nmn) coupled by pyrophosphate linkage to the 5'-phosphate adenosine 2. Pentose Phosphate Pathway to protect them from oxidative injury.
Last updated: 8 Jan, 2021
G6PD G6PD Pentose Phosphate Pathway deficiency is an X-linked X-linked Genetic diseases that are linked to gene mutations on the X chromosome in humans or the X chromosome in other species. Included here are animal models of human X-linked diseases. Common Variable Immunodeficiency (CVID) disorder found on band Xq28.
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Urinary sample with hematuria Hematuria Presence of blood in the urine. Renal Cell Carcinoma
Image: “ hematuria Hematuria Presence of blood in the urine. Renal Cell Carcinoma” by omicsonline.org. License: CC BY 4.0Glucose-6-phosphate dehydrogenase Glucose-6-phosphate dehydrogenase Pentose Phosphate Pathway deficiency is suspected in cases of episodic hemolytic symptoms. Diagnostic testing should include the following:
G6PD G6PD Pentose Phosphate Pathway fluorescent spot test under ultraviolet light Ultraviolet light That portion of the electromagnetic spectrum immediately below the visible range and extending into the x-ray frequencies. The longer wavelengths (near-uv or biotic or vital rays) are necessary for the endogenous synthesis of vitamin D and are also called antirachitic rays; the shorter, ionizing wavelengths (far-uv or abiotic or extravital rays) are viricidal, bactericidal, mutagenic, and carcinogenic and are used as disinfectants. Bullous Pemphigoid and Pemphigus Vulgaris (365 nm) (Beutler test)
Image: “Figure 1” by Leslie, T., Moiz, B., Mohammad, N., Amanzai, O., Rasheed, H.U., Jan, S., Siddiqi, A.M., Nasir, A., Beg, M.A., & Vink, M. (2013). Prevalence Prevalence The total number of cases of a given disease in a specified population at a designated time. It is differentiated from incidence, which refers to the number of new cases in the population at a given time. Measures of Disease Frequency and molecular basis of glucose-6-phosphate dehydrogenase Glucose-6-phosphate dehydrogenase Pentose Phosphate Pathway deficiency in Afghan populations: implications for treatment policy in the region. Malaria Malaria Malaria is an infectious parasitic disease affecting humans and other animals. Most commonly transmitted via the bite of a female Anopheles mosquito infected with microorganisms of the Plasmodium genus. Patients present with fever, chills, myalgia, headache, and diaphoresis. Plasmodium/Malaria Journal, 12, 230 – 230.
Heinz bodies
Heinz bodies
Abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. They are seen in thalassemias, enzymopathies, hemoglobinopathies, and after splenectomy.
Asplenia (inclusions within the RBC) as seen on peripheral smear (seen with supravital stain).
Heinz bodies
Heinz bodies
Abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. They are seen in thalassemias, enzymopathies, hemoglobinopathies, and after splenectomy.
Asplenia are precipitates of denatured hemoglobin and are not seen on routine stains, only with supravital stains (rarely performed today).