Presentation
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]
Entire Body System
- Anemia
The anemia that results is a nonspherocytic hemolytic anemia. See also congenital nonspherocytic hemolytic anemia, favism. [medical-dictionary.thefreedictionary.com]
His response to antibiotic therapy was optimal; the hemolytic anemia resolved. There were no further episodes of hemolysis. [ncbi.nlm.nih.gov]
Anemia due to G6PD deficiency Anemia due to glutathione reductase deficiency Anemia due to pentose phosphate pathway defect Anemia, G6PD deficiency Anemia, glutathione reductase deficiency Drug-induced enzyme deficiency anemia Erythrocyte enzyme deficiency [icd9data.com]
- 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]
Patient usually presents with anemic symptoms such as extremely tiredness and fatigue. [explainmedicine.com]
· 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]
- 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. [dx.doi.org]
- Cerebral Palsy
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]
Severe cases in neonatal period can develop into cerebral jaundice and thus lead to cerebral palsy with mental retardation 3, 4, 5. [nature.com]
- Hypothermia
Abstract Cardiac surgery involving cardiopulmonary bypass (CPB) in its conventional form involves many processes leading to free radical production, such as perioperative ischemia, reperfusion, circulation of whole body blood through the CPB circuit, hypothermia [ncbi.nlm.nih.gov]
Respiratoric
- Respiratory Distress
His condition deteriorated rapidly, with respiratory distress and circulatory failure. Echocardiography showed pulmonary hypertension and right heart dilation. [ncbi.nlm.nih.gov]
Gastrointestinal
- Abdominal Pain
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]
pain localized to the right upper quadrant area of his abdomen. [osmosis.org]
- 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]
- Upper Abdominal Pain
CASE REPORT A 35-year-old man with no history of alcoholism or liver disease presented with low grade fever, upper abdominal pain, fatigue and loss of appetite for eight to 10 days. [ncbi.nlm.nih.gov]
Liver, Gall & Pancreas
- Jaundice
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]
Follow up at three months showed no residual jaundice, no sign of kernicterus, normal hearing, Hb 100 g/l, reticulocytes 3.9%. [dx.doi.org]
- Scleral Icterus
icterus Coombs’ test Negative Drugs that cause hemolysis in G6PD-deficient persons inf lict oxidative damage to erythrocytes leading to erythrocyte destruction. [aafp.org]
Ears
- Normal Hearing
Follow up at three months showed no residual jaundice, no sign of kernicterus, normal hearing, Hb 100 g/l, reticulocytes 3.9%. [dx.doi.org]
Neurologic
- Neglect
This review offers critical historic reflection on the neglect of this serious problem in the chemotherapy of P. vivax. [ncbi.nlm.nih.gov]
Urogenital
- Dark Urine
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]
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]
His major complaint was preceded, in sequence, by a temperature of 102 F (38.9 C), dark urine, [jamanetwork.com]
Symptoms during a hemolytic episode may include dark urine, fatigue, paleness, rapid heart rate, shortness of breath, and yellowing of the skin ( jaundice ). [rarediseases.info.nih.gov]
- 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]
- Hot Flushes
Except for hot flushes, the patient lives without remarkable side effects from ongoing or previous treatments. [ncbi.nlm.nih.gov]
Workup
Serum
- Anisopoikilocytosis
The peripheral blood smear showed polychromasia, anisopoikilocytosis and reticulocytosis (the reticulocyte count was 14.6%). Urine was positive for hemoglobinuria. [ncbi.nlm.nih.gov]
- Hyperviscosity
Several possible mechanisms exist to explain this association, including hyperviscosity, direct endothelial dysfunction secondary to bare hemoglobin vasculotoxicity, and relative nitric oxide deficiency causing vasoconstriction and vascular smooth muscle [ncbi.nlm.nih.gov]
Treatment
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]
The main treatment for G6PD deficiency is avoidance of oxidative stressors. [aafp.org]
Prognosis
Links: drugs to avoid in G6PD deficiency clinical features investigations treatment and prognosis [gpnotebook.co.uk]
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]
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]
Pallor Rapid heart rate Shortness of breath Yellow skin color ( jaundice ) Treatment Treatment may involve: Medicines to treat an infection, if present Stopping any drugs that are causing red blood cell destruction Transfusions, in some cases Outlook (Prognosis [mountsinai.org]
Etiology
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.com]
Epidemiology
/analysis/complications/diagnosis/epidemiology; mass screening; military medicine; retrospective studies; risk assessment; risk factors [ncbi.nlm.nih.gov]
Epidemiology G6PD deficiency is the most common human enzyme deficiency. [amboss.com]
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
We discuss the pathophysiology of severe methemoglobinemia when associated with acute hemolysis, favism, and the common African G6PD A-variant [G6PD, VAL68MET, ASN126ASP]. [ncbi.nlm.nih.gov]
Prevention
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]