Glucose-6-phosphate dehydrogenase deficiency overview: Difference between revisions
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'''For patient information, click [[Glucose-6-phosphate dehydrogenase deficiency (patient information)|here]]''' | '''For patient information, click [[Glucose-6-phosphate dehydrogenase deficiency (patient information)|here]]''' | ||
{{CMG}}; {{AE}}{{MA}} | {{CMG}}; {{AE}}{{MA}} [mailto:malihash@bidmc.harvard.edu] | ||
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==[[Glucose-6-phosphate dehydrogenase deficiency historical perspective|Historical Perspective]]== | ==[[Glucose-6-phosphate dehydrogenase deficiency historical perspective|Historical Perspective]]== | ||
G6PD deficiency was first discovered more than 50 years ago. Prisoner volunteers were given primaquine and some of them developed hemolytic anemia | |||
==[[Glucose-6-phosphate dehydrogenase deficiency classification|Classification]]== | ==[[Glucose-6-phosphate dehydrogenase deficiency classification|Classification]]== | ||
G6PD deficiency may be classified to into 5 subtypes. Class I: Severe deficiency with chronic [[hemolytic anemia]]. Class 2: Severe deficiency with intermittent [[hemolysis]]. Class III: Moderate deficiency, [[hemolysis]] with significant oxidant stress. Class IV: No [[enzyme]] deficiency or [[hemolysis]]. Class V: Increased [[enzyme]] activity. | |||
==[[Glucose-6-phosphate dehydrogenase deficiency pathophysiology|Pathophysiology]]== | ==[[Glucose-6-phosphate dehydrogenase deficiency pathophysiology|Pathophysiology]]== | ||
It is understood that G6PD deficiency is the result of reduced [[Glucose-6-phosphate dehydrogenase]] [[enzyme]] levels. G6PD deficiency is an [[X-linked]] disorder. Glucose-6-phosphate dehydrogenase enzyme oxidizes [[glucose-6-phosphate]] to 6-phosphogluconolactone in pentose phosphate pathway ( [[HMP shunt]]). Glucose-6-phosphate dehydrogenase enzyme also reduces [[nicotinamide adenine dinucleotide phosphate]] ([[NADP]]) to [[NADPH]]. [[NADPH]] is an important cofactor in [[glutathione]] metabolism against [[oxidative]] injury in RBC. In G6PD deficiency, [[oxidative]] stresses can denature [[hemoglobin]] and intravascular [[hemolysis]] in RBC can happen. The gene G6PD is located in the distal long arm of the X chromosome at the Xq28 locus. G6PD B, is the wild type or normal. On microscopic histopathological analysis, Heinz bodies can be visualized as a result of denatured [[hemoglobin]] in peripheral blood smears with supravital staining. | |||
==[[Glucose-6-phosphate dehydrogenase deficiency causes|Causes]]== | ==[[Glucose-6-phosphate dehydrogenase deficiency causes|Causes]]== | ||
The most common cause of G6PD deficiency is due to genetic disorder. Less common cause of G6PD deficiency include neutrophil dysfunction. | |||
==[[Glucose-6-phosphate dehydrogenase deficiency differential diagnosis|Differentiating Xyz from other Diseases]]== | ==[[Glucose-6-phosphate dehydrogenase deficiency differential diagnosis|Differentiating Xyz from other Diseases]]== | ||
==[[Glucose-6-phosphate dehydrogenase deficiencyepidemiology and demographics|Epidemiology and Demographics]]== | ==[[Glucose-6-phosphate dehydrogenase deficiencyepidemiology and demographics|Epidemiology and Demographics]]== | ||
G6PD deficiency is affecting 400 million people worldwide. atients of all age groups may develop [[favism]], but more often and severe in childern. African, Middle Eastern and South Asian people are affected the most. Men are more commonly affected by G6PD deficiency. | |||
==[[Glucose-6-phosphate dehydrogenase deficiencyrisk factors|Risk Factors]]== | ==[[Glucose-6-phosphate dehydrogenase deficiencyrisk factors|Risk Factors]]== | ||
Common risk factors in the development of G6PD deficiency include some foods such as [[Fava bean|fava]] beans, some [[Medication|medications]] and [[Infection|infections]]. | |||
==[[Glucose-6-phosphate dehydrogenase deficiency screening|Screening]]== | ==[[Glucose-6-phosphate dehydrogenase deficiency screening|Screening]]== | ||
G6PD defeciency screening in [[neonates]] is done routinly in some regions with high [[incidence]]. Screening is done before giving oxidant medication to high risk patients. | |||
==[[Glucose-6-phosphate dehydrogenase deficiency natural history, complications and prognosis|Natural History, Complications and Prognosis]]== | ==[[Glucose-6-phosphate dehydrogenase deficiency natural history, complications and prognosis|Natural History, Complications and Prognosis]]== | ||
The symptoms of G6PD deficiency typically develop after exposure to some foods and medications. Common complications of G6PD deficiency include acute hemolytic anemia and neonatal jaundice. | |||
==Diagnosis== | ==Diagnosis== | ||
Revision as of 16:10, 5 September 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mahda Alihashemi M.D. [2] [3]
Overview
Historical Perspective
G6PD deficiency was first discovered more than 50 years ago. Prisoner volunteers were given primaquine and some of them developed hemolytic anemia
Classification
G6PD deficiency may be classified to into 5 subtypes. Class I: Severe deficiency with chronic hemolytic anemia. Class 2: Severe deficiency with intermittent hemolysis. Class III: Moderate deficiency, hemolysis with significant oxidant stress. Class IV: No enzyme deficiency or hemolysis. Class V: Increased enzyme activity.
Pathophysiology
It is understood that G6PD deficiency is the result of reduced Glucose-6-phosphate dehydrogenase enzyme levels. G6PD deficiency is an X-linked disorder. Glucose-6-phosphate dehydrogenase enzyme oxidizes glucose-6-phosphate to 6-phosphogluconolactone in pentose phosphate pathway ( HMP shunt). Glucose-6-phosphate dehydrogenase enzyme also reduces nicotinamide adenine dinucleotide phosphate (NADP) to NADPH. NADPH is an important cofactor in glutathione metabolism against oxidative injury in RBC. In G6PD deficiency, oxidative stresses can denature hemoglobin and intravascular hemolysis in RBC can happen. The gene G6PD is located in the distal long arm of the X chromosome at the Xq28 locus. G6PD B, is the wild type or normal. On microscopic histopathological analysis, Heinz bodies can be visualized as a result of denatured hemoglobin in peripheral blood smears with supravital staining.
Causes
The most common cause of G6PD deficiency is due to genetic disorder. Less common cause of G6PD deficiency include neutrophil dysfunction.
Differentiating Xyz from other Diseases
Epidemiology and Demographics
G6PD deficiency is affecting 400 million people worldwide. atients of all age groups may develop favism, but more often and severe in childern. African, Middle Eastern and South Asian people are affected the most. Men are more commonly affected by G6PD deficiency.
Risk Factors
Common risk factors in the development of G6PD deficiency include some foods such as fava beans, some medications and infections.
Screening
G6PD defeciency screening in neonates is done routinly in some regions with high incidence. Screening is done before giving oxidant medication to high risk patients.
Natural History, Complications and Prognosis
The symptoms of G6PD deficiency typically develop after exposure to some foods and medications. Common complications of G6PD deficiency include acute hemolytic anemia and neonatal jaundice.
Diagnosis
Diagnostic study of choice | History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X-Ray Findings | Echocardiography and Ultrasound | CT-Scan Findings | MRI Findings | Other Imaging Findings | Other Diagnostic Studies
Treatment
Medical Therapy | Interventions | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies