Patients present with signs and symptoms of neonatal jaundice or hemolytic anemia, which are usually self-resolving and do not require treatment, except for their most severe forms. [cancertherapyadvisor.com]

G6PD assay show marked decrease in enzyme level at time of presentation in all cases with the commonest G6PD enzyme level of 3-4 U/gm Hb (592 patients; 59.2%). [ncbi.nlm.nih.gov]

• Hemophilia A

  Most are single-base changes that result in an amino acid substitution. [12] G6PD deficiency is an X-linked recessive disorder, with an inheritance pattern similar to that of hemophilia and color blindness: males usually manifest the abnormality and females [emedicine.medscape.com]

• Anemia

  Diagnostic findings include signs of intravascular hemolysis (e.g., normocytic anemia, ↑ LDH, and ↓ haptoglobin ), Heinz bodies, and bite cells on blood smear. Management mainly consists of preventing hemolysis by avoiding triggers. [amboss.com]

  […] hemolytic anemia (Class I variants). [cancertherapyadvisor.com]

  Phenazopyridine-induced hemolytic anemia in G-6-PD deficiency. Drug Intell Clin Pharm. 1987 ; 21 : 921 – 2. 56. Phenazopyridine-induced hemolytic anemia in a patient with G6PD deficiency. Acta Haematol. 1983 ; 70 : 208 – 9. 57. [ajhp.org]

  Hemolytic anemia episodes can result from exposure to certain drugs. [rarediseases.org]

  The anemia that results is a nonspherocytic hemolytic anemia. See also congenital nonspherocytic hemolytic anemia, favism. [medical-dictionary.thefreedictionary.com]

• Asymptomatic

  G6PD is usually asymptomatic, but a sudden surge in oxidative stress (e.g., after infection, consumption of fava beans, or various drugs) may lead to a life-threatening hemolytic crisis. [amboss.com]

  G6PD-deficient persons are mostly asymptomatic, but they can develop severe jaundice during the neonatal period and acute hemolytic anemia when they ingest fava beans or when they are exposed to certain infections or drugs. [ncbi.nlm.nih.gov]

• Fatigue

  The patient was admitted to hospital with fatigue, shortness of breath and jaundice lasting for 2 days. Laboratory tests were consistent with haemolysis and inflammation. The patient was treated as having a mycoplasma pneumonia. [ncbi.nlm.nih.gov]

  · Pallor · Fatigue · Tachycardia –quick heart rate · Yellow skin · Shortness of breath · Dark colored urine Incidence and Carriers Disease frequency: 400 million people worldwide. approximately 50% of Kurdish males, 30% of Sardinia males, and 13% of [mazornet.com]

  This type of anemia leads to paleness, yellowing of the skin and whites of the eyes ( jaundice ), dark urine, fatigue, shortness of breath, and a rapid heart rate. [medicinenet.com]

• Pallor

  Patients presented mainly with pallor (1000 patients; 100%), dark red urine (896 patients; 89.6%) and jaundice (878 patients; 87.8%) after 24-72 hours of exposure to the precipitating factors (mean: 36±17.73 hours). [ncbi.nlm.nih.gov]

  · Pallor · Fatigue · Tachycardia –quick heart rate · Yellow skin · Shortness of breath · Dark colored urine Incidence and Carriers Disease frequency: 400 million people worldwide. approximately 50% of Kurdish males, 30% of Sardinia males, and 13% of [mazornet.com]

  Within 24 hours he developed increasing pallor (Hb 41 g/l, haematocrit 12.4%, SBR 98 μmol/l, LDH 827 U/l), tachycardia, and poor peripheral perfusion. After transfusion his jaundice subsided, and his Hb remained stable. [doi.org]

• Turkish

  Plasmodium vivax infection in 9-year-old Turkish boy with glucose-6-phosphate dehydrogenase deficiency, treatment with primaquine caused acute hemolytic reactions: Austria (had visited malarious area of Turkey 12 months earlier) Plasmodium vivax drug [agris.fao.org]

• Abdominal Pain

  Recurring hemolytic crises may occur, especially following triggers Arises within 2–3 days after increased oxidative stress Sudden onset of bac k or abdominal pain Jaundice Dark urine Transient splenomegaly Recurrent severe infections causing symptoms [amboss.com]

  The patient experienced abdominal pain and acute hypotension 10 minutes after diagnostic hysteroscopy. We attributed this event to the exposure of her genital mucosa caused by the hysteroscopic chemical disinfectant. [ncbi.nlm.nih.gov]

  Some people have back and/or abdominal pain. [merckmanuals.com]

• Nausea

  Nausea, abdominal pain and diarrhea may develop. Vomiting only occurs rarely. Within 6 to 24 hours, urine may become noticeably dark and can appear red, brown or even black. [rarediseases.org]

  An attack by P. vivax causes agonising daily paroxysms often accompanied by intractable nausea and vomiting, headache, myalgia and profound asthenia. 21 Anstey NM, Douglas NM, Poespoprodjo JR, Price RN. [doi.org]

• Jaundice

  Neonatal jaundice due to G6PD deficiency differs from the classic Rhesus (Rh)-related jaundice in its time of onset (peak incidence between day 2 and 3) and severity of jaundice, which outweighs the severity of anemia. [cancertherapyadvisor.com]

  Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzyme disorder of human beings and a globally important cause of neonatal jaundice, which can lead to kernicterus and death or spastic cerebral palsy. [ncbi.nlm.nih.gov]

  Jaundice can also develop and the liver and spleen may become enlarged. [rarediseases.org]

• Neonatal Jaundice

  Neonatal jaundice due to G6PD deficiency differs from the classic Rhesus (Rh)-related jaundice in its time of onset (peak incidence between day 2 and 3) and severity of jaundice, which outweighs the severity of anemia. [cancertherapyadvisor.com]

  Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzyme disorder of human beings and a globally important cause of neonatal jaundice, which can lead to kernicterus and death or spastic cerebral palsy. [ncbi.nlm.nih.gov]

• Seizure

  Despite transfusions he remained anuric, developed notable uraemia with disseminated intravascular coagulation and cerebral seizures, and died two days after admission. [doi.org]

  Hypocalcemia can lead to cardiac arrhythmias, seizures, tetany, and death. Interestingly, prolonged hypocalcemia has been described even after resolution of hyperphosphatemia in TLS, presumably due to a deficiency of 1,25-vitamin D ( 29 ). [cjasn.asnjournals.org]

  The second time he had the seizure in the middle of the night (thank god our helper was vigilant), we had no idea and couldn't trace how/why that happened... hi mummies i have a 3 mths old baby who's G6PDD. i would like to join the whatsapp group! [singaporemotherhood.com]

• Dark Urine

  Recurring hemolytic crises may occur, especially following triggers Arises within 2–3 days after increased oxidative stress Sudden onset of bac k or abdominal pain Jaundice Dark urine Transient splenomegaly Recurrent severe infections causing symptoms [amboss.com]

  This type of anemia leads to paleness, yellowing of the skin and whites of the eyes ( jaundice ), dark urine, fatigue, shortness of breath, and a rapid heart rate. [medicinenet.com]

  The destruction of red blood cells can cause symptoms, including yellowing of the skin and whites of the eyes, dark urine, and sometimes back or abdominal pain. A blood test can assess the level of the G6PD enzyme. [merckmanuals.com]

  His major complaint was preceded, in sequence, by a temperature of 102 F (38.9 C), dark urine, [jamanetwork.com]

• Kidney Failure

  The evolution was marked by a respiratory distress syndrome, a severe hemolytic anemia, associated with thrombocytopenia and kidney failure. [ncbi.nlm.nih.gov]

  In rare case, kidney failure or death may occur following a severe hemolytic event. Call your health care provider if you have symptoms of this condition. [nlm.nih.gov]

  If a severe hemolytic event occurs and is not treated, kidney failure or death can occur. But this is very rare. [explainmedicine.com]

  Possible Complications In rare case, kidney failure or death may occur following a severe hemolytic event. When to Contact a Medical Professional Call your health care provider if you have symptoms of this condition. [mountsinai.org]

• Heinz Bodies

  Diagnostic findings include signs of intravascular hemolysis (e.g., normocytic anemia, ↑ LDH, and ↓ haptoglobin ), Heinz bodies, and bite cells on blood smear. Management mainly consists of preventing hemolysis by avoiding triggers. [amboss.com]

  Bodies [ Figure 1 ]) Figure 1 Heinz Bodies (oxidized, denatured hemoglobin, precipitated out of solution into dense intracellular granules, in a patient with G6PD deficiency The Heinz Bodies are revealed using a supra-vital stain, brilliant cresyl blue [cancertherapyadvisor.com]

  Peripheral blood smear revealed bite cells, Heinz bodies and spherocytes. Thus a diagnosis of hemolytic anemia with hemoglobinuria was made. Patient's glucose-6-phosphate dehydrogenase (G6PD) levels were below the normal range. [ncbi.nlm.nih.gov]

  Denatured hemoglobin can be visualized as Heinz bodies in peripheral blood smears processed with supravital staining. Heinz bodies are shown in the figure below. Heinz bodies in a peripheral smear stained with a supravital stain. [emedicine.medscape.com]

• Haptoglobin Decreased

  G6PD deficiency and associated acute hemolysis Back pain Complete blood count Mild to severe anemia Abdominal pain Reticulocyte count Increases four to seven days after hemolysis Jaundice Peripheral blood smear Heinz bodies Transient splenomegaly Haptoglobin [aafp.org]

  Although vitamin E and selenium have antioxidant properties, their use does not decrease the severity of G6PD deficiency. [en.wikipedia.org]

• Erythrocytes Increased

  After splenectomy the survival time of erythrocytes increases because the rigid cells no longer are sequestered at the same rate by the rest of the reticuloendothelial system. [content.iospress.com]

The patient underwent adjuvant radiotherapy; meanwhile, tamoxifen was administered as adjuvant endocrine treatment. The treatment process was smooth. There was no evidence of hemolytic anemia. [ncbi.nlm.nih.gov]

Dapsone is a sulfone antibiotic used for the treatment of leprosy and the prophylaxis and treatment of Pneumocystis jirovecii pneumonia. [ajhp.org]

References: [1] [8] [3] [6] Treatment Avoid triggers Blood transfusions should be performed only in rare, severe cases. [amboss.com]

Avoidance of known hemolytic triggers and prompt treatment of infections, and control of fever, is important to prevent episodes of hemolytic anemia. [cancertherapyadvisor.com]

Current evidence suggests that PVB19-associated HLH has a favorable prognosis. Mild undiagnosed cases of HLH may be the cause of pancytopenia in PVB19 infections. [ncbi.nlm.nih.gov]

Links: drugs to avoid in G6PD deficiency clinical features investigations treatment and prognosis [gpnotebook.co.uk]

Prognosis The prognosis for almost everyone with G6PD deficiency is excellent. Large studies have shown that G6PD-deficient individuals do not acquire any illnesses more frequently than the rest of the population. [medical-dictionary.thefreedictionary.com]

Prognosis This is variable depending on the degree of susceptibility to favism, quantity of beans ingested and access to acute medical care. [patient.info]

Often the etiology is idiopathic. Three cases of priapism in glucose-6-phosphate dehydrogenase (G6PD) deficiency patients have been described in literature. [ncbi.nlm.nih.gov]

Etiology of hemolysis in two patients with hepatitis A infection: glucose-6-phosphate dehydrogenase deficiency or autoimmune hemolytic anemia. Eur J Pediatr. 2008 Dec. 167(12):1435-9. [Medline]. [emedicine.medscape.com]

Epidemiology G6PD deficiency is the most common human enzyme deficiency. [amboss.com]

/analysis/complications/diagnosis/epidemiology; mass screening; military medicine; retrospective studies; risk assessment; risk factors [ncbi.nlm.nih.gov]

It provides epidemiologists, physicians, sociologists, and anthropologists with a methodological framework for understanding the concepts of race and ethnic group, the use of these concepts in epidemiology, and the interpretation of epidemiologic studies [books.google.es]

Pathophysiology X-linked recessive G6PD is the rate-limiting enzyme of the pentose phosphate pa thway (also known as the hexose monophosphate shunt ). [amboss.com]

The medical condition generates a pathophysiologic milieu consistent with aberrant NO signaling and heightened oxidative stress in the penis. [ncbi.nlm.nih.gov]

The complications of G6PD deficiency can largely be prevented by education and information, and neonatal jaundice can be successfully treated by phototherapy, a cheap and simple approach suitable for use in primary health care. [ncbi.nlm.nih.gov]

Management mainly consists of preventing hemolysis by avoiding triggers. Epidemiology G6PD deficiency is the most common human enzyme deficiency. [amboss.com]