Glucose-6-phosphate dehydrogenase deficiency is a hereditary disease which is attributed to deficiency of the G6PD gene enzyme. This enzyme is significant in the membrane of RBCs since it provides a protection from oxidative radicals. Due to low activity of G6PD the RBCs become susceptible to oxidative stress and this results in hemolysis which is the destruction of the red blood cells.
Epidemiology
G6PD deficiency is one of the most common enzyme deficiencies in the world; the worldwide prevalence of this disorder is approximately 400 million; the highest rates of G6PD deficiency are registered in Africa, countries of Mediterranean, Middle East and Southeast Asia. The disease is X-linked meaning that males are more affected though the female can be affected though they can be carrier or mildly affected if the mutation is from both parents.
Anatomy
Pathophysiology
G6PD deficiency in the newborn will restrict the ability of red blood cells to cope with oxidative stress. G6PD is an enzyme that protects cells in the body from oxidative destruction through the generation of NADPH required in the maintenance of glutathione, an essential antioxidant. In G6PD deficiency, because the enzyme activity is low, the RBCs become susceptible to oxidative stress that arises from infections, some drugs, or foods. This susceptibility can lead to a condition called hemolysis, which is the destruction of the red blood cells.
The effect of oxidative stress in neonates is hemolysis whereby the death of the red blood cells occurs therefore neonatal jaundice and hyperbilirubinemia. Due to the immaturity of the liver, the metabolic pathways of bilirubin are not as efficient in newborns, and that severe hyperbilirubinemia, which can trigger conditions such as kernicterus, or brain damage resulting from bilirubin, is highly prone to occur in newborns.
Etiology
Causes of G6PD deficiency in newborn include a hereditary genetic defect most of the time. This condition is X-linked recessive, this is a condition passed on from the mother to child through the X chromosome. Thus, and males are more frequently affected as they possess only one X chromosome while females can be affected if they have one mutated X chromosome.
The deficiency results in the reduced capacity of the enzyme to prevent oxidative destruction of red blood cells, that can cause hemolytic anemia especially when provoked by certain causes such as specific drugs, certain conditions. In newborns it may be manifested as jaundice within the first hours after birth because of increased red blood cell breakdown.
Genetics
Prognostic Factors
Severity of Deficiency: Severe forms of G6PD deficiency pose a risk to the newborns and they are at sometimes prone to certain complications.
Presence of Hemolysis: Some of the hematological changes that can be observed that affects prognosis includes jaundice and anemia that may be evidence of the degree of hemolysis.
Infection: Infections can also modulate hemolysis which affect outcomes.
Exposure to Triggers: Patients with any condition that can cause hemolytic disease are advised to avoid taking certain drugs or foods that lead to the destruction of the patient’s RBCs.
Clinical History
Age Group:
G6PD deficiency is a genetic disease associated with red blood cell and it results in hemolytic anemia. It is congenital; hence, screen test can reveal it in the newborns. The condition is inherited in the X-linked pattern, and therefore, is much more common in males than in females, although females can be asymptomatic or manifest the condition as mild.
Physical Examination
Jaundice
Hepatosplenomegaly
Pallor
Signs of Anemia
Hemoglobinuria
Age group
Associated comorbidity
Neonatal Jaundice
Hemolytic Anemia
Infections
Medications
Dietary Considerations
Associated activity
Acuity of presentation
Neonatal Jaundice: The most frequent one which can occur within the initial 24-48 hours of the infant’s life.
Hemolytic Anemia: This leads to the symptoms like pallor, lethergy which are possibly due to the high reticulocyte count.
Direct Hyperbilirubinemia: High Serum unconjugated bilirubin causes kernicterus if not controlled.
These presentations may be compounded by infections or use of certain medications or certain foods. Thus, early diagnosis and treatment must be provided to avoid more severe consequences.
Differential Diagnoses
Physiologic Jaundice of the Newborn
Hemolytic Disease of the Newborn (HDN)
Congenital Infections
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
Treatment Paradigm:
Early Diagnosis: It is recommended that there should be early diagnosis of the condition with an aim of providing early intervention to avoid further problems.
Avoidance of Triggers:
Newborns with G6PD deficiency should avoid substances that can trigger hemolysis. Some of the causes of haemolytic anaemia encompasses use of some drugs such as sulpha drugs and aspirin, specific foodstuffs such as fava beans and infections. It is imperative that the caregivers should know the type of stimuli that could lead to the above development.
Monitoring: Another aspect that should not be overlooked is the monitoring of the hemoglobin level of the newborn as well as the level of bilirubin which normally shows high level in infancy and the first weeks of birth. This also assist in the early diagnosis of hemolysis or jaundice.
Management of Jaundice: If the newborn develops jaundice, then phototherapy may be used to regulate the bilirubin. This requires constant supervision to modify treatment depending on the bilirubin levels and the overall health of the infant.
Supportive Care: A supportive care includes the maintenance of an adequate intake of fluids and nutrients, and regular check of the patient’s haemoglobin level and other complications that are associated with the disease.
Monitoring for Infections: Infections would over activate some factors that would mean a further breaking down of the red blood cells in the G6PD deficient infants.
Safe Feeding Practices: The infant must be adequately hydrated by an adequate fluid intake since it may have dehydration, which may increase the risk of hemolysis. Avoidance of Specific Foods: There may be situations where specific foods must be avoided when hemolysis is induced. For example, there is a suspicion that consumption of fava beans may elicit hemolytic reactions in patients with G6PD deficiency. Education for Caregivers:
Educate caregivers about the condition, including presenting them with information that could help to recognize hemolysis signs (such as jaundice, irritability, or changes in stool color), and encourage them to try to avoid known triggers.
Screening: Several researchers have conducted studies on the screening of the G6PD deficient patients especially among the newborns using the technique of newborn screening.
Diagnostic Testing: Screening for G6PD deficiency implies that, in case G6PD deficiency is suspected or diagnosed by screening, further tests will help to confirm the correct diagnosis and broaden the evaluation of severity. Acute Management: Avoidance of Triggers: The diet of patients with G6PD deficiency should consist of an avoidance of foods and medications that have precipitated hemolysis including sulphonamides, nitrofurantoin and fava beans. Hemolysis Monitoring:
Regular monitoring of the baby’s hemoglobin level and signs of jaundice is necessary. In severe cases, phototherapy or exchange transfusion may be required if jaundice worsens significantly.
There are severe cases that may require phototherapy or exchange transfusion if jaundice worsens of the patient. Supportive Care: Monitoring for Complications: Amongst the bilateral complications include anemia, and manifestations of bilirubin encephalopathy, also known as kernicterus. Long-term Management and Education:
Educate parents and caregivers as to what the condition entails, and advise them to be always on the lookout for the manifestations of hemolysis and strategies to avoid the known triggers.
Glucose-6-phosphate dehydrogenase deficiency is a hereditary disease which is attributed to deficiency of the G6PD gene enzyme. This enzyme is significant in the membrane of RBCs since it provides a protection from oxidative radicals. Due to low activity of G6PD the RBCs become susceptible to oxidative stress and this results in hemolysis which is the destruction of the red blood cells.
G6PD deficiency is one of the most common enzyme deficiencies in the world; the worldwide prevalence of this disorder is approximately 400 million; the highest rates of G6PD deficiency are registered in Africa, countries of Mediterranean, Middle East and Southeast Asia. The disease is X-linked meaning that males are more affected though the female can be affected though they can be carrier or mildly affected if the mutation is from both parents.
G6PD deficiency in the newborn will restrict the ability of red blood cells to cope with oxidative stress. G6PD is an enzyme that protects cells in the body from oxidative destruction through the generation of NADPH required in the maintenance of glutathione, an essential antioxidant. In G6PD deficiency, because the enzyme activity is low, the RBCs become susceptible to oxidative stress that arises from infections, some drugs, or foods. This susceptibility can lead to a condition called hemolysis, which is the destruction of the red blood cells.
The effect of oxidative stress in neonates is hemolysis whereby the death of the red blood cells occurs therefore neonatal jaundice and hyperbilirubinemia. Due to the immaturity of the liver, the metabolic pathways of bilirubin are not as efficient in newborns, and that severe hyperbilirubinemia, which can trigger conditions such as kernicterus, or brain damage resulting from bilirubin, is highly prone to occur in newborns.
Causes of G6PD deficiency in newborn include a hereditary genetic defect most of the time. This condition is X-linked recessive, this is a condition passed on from the mother to child through the X chromosome. Thus, and males are more frequently affected as they possess only one X chromosome while females can be affected if they have one mutated X chromosome.
The deficiency results in the reduced capacity of the enzyme to prevent oxidative destruction of red blood cells, that can cause hemolytic anemia especially when provoked by certain causes such as specific drugs, certain conditions. In newborns it may be manifested as jaundice within the first hours after birth because of increased red blood cell breakdown.
Severity of Deficiency: Severe forms of G6PD deficiency pose a risk to the newborns and they are at sometimes prone to certain complications.
Presence of Hemolysis: Some of the hematological changes that can be observed that affects prognosis includes jaundice and anemia that may be evidence of the degree of hemolysis.
Infection: Infections can also modulate hemolysis which affect outcomes.
Exposure to Triggers: Patients with any condition that can cause hemolytic disease are advised to avoid taking certain drugs or foods that lead to the destruction of the patient’s RBCs.
Age Group:
G6PD deficiency is a genetic disease associated with red blood cell and it results in hemolytic anemia. It is congenital; hence, screen test can reveal it in the newborns. The condition is inherited in the X-linked pattern, and therefore, is much more common in males than in females, although females can be asymptomatic or manifest the condition as mild.
Jaundice
Hepatosplenomegaly
Pallor
Signs of Anemia
Hemoglobinuria
Neonatal Jaundice
Hemolytic Anemia
Infections
Medications
Dietary Considerations
Neonatal Jaundice: The most frequent one which can occur within the initial 24-48 hours of the infant’s life.
Hemolytic Anemia: This leads to the symptoms like pallor, lethergy which are possibly due to the high reticulocyte count.
Direct Hyperbilirubinemia: High Serum unconjugated bilirubin causes kernicterus if not controlled.
These presentations may be compounded by infections or use of certain medications or certain foods. Thus, early diagnosis and treatment must be provided to avoid more severe consequences.
Physiologic Jaundice of the Newborn
Hemolytic Disease of the Newborn (HDN)
Congenital Infections
Treatment Paradigm:
Early Diagnosis: It is recommended that there should be early diagnosis of the condition with an aim of providing early intervention to avoid further problems.
Avoidance of Triggers:
Newborns with G6PD deficiency should avoid substances that can trigger hemolysis. Some of the causes of haemolytic anaemia encompasses use of some drugs such as sulpha drugs and aspirin, specific foodstuffs such as fava beans and infections. It is imperative that the caregivers should know the type of stimuli that could lead to the above development.
Monitoring: Another aspect that should not be overlooked is the monitoring of the hemoglobin level of the newborn as well as the level of bilirubin which normally shows high level in infancy and the first weeks of birth. This also assist in the early diagnosis of hemolysis or jaundice.
Management of Jaundice: If the newborn develops jaundice, then phototherapy may be used to regulate the bilirubin. This requires constant supervision to modify treatment depending on the bilirubin levels and the overall health of the infant.
Supportive Care: A supportive care includes the maintenance of an adequate intake of fluids and nutrients, and regular check of the patient’s haemoglobin level and other complications that are associated with the disease.
Endocrinology, Metabolism
Monitoring for Infections: Infections would over activate some factors that would mean a further breaking down of the red blood cells in the G6PD deficient infants.
Safe Feeding Practices: The infant must be adequately hydrated by an adequate fluid intake since it may have dehydration, which may increase the risk of hemolysis. Avoidance of Specific Foods: There may be situations where specific foods must be avoided when hemolysis is induced. For example, there is a suspicion that consumption of fava beans may elicit hemolytic reactions in patients with G6PD deficiency. Education for Caregivers:
Educate caregivers about the condition, including presenting them with information that could help to recognize hemolysis signs (such as jaundice, irritability, or changes in stool color), and encourage them to try to avoid known triggers.
Endocrinology, Metabolism
Identification and Diagnosis:
Screening: Several researchers have conducted studies on the screening of the G6PD deficient patients especially among the newborns using the technique of newborn screening.
Diagnostic Testing: Screening for G6PD deficiency implies that, in case G6PD deficiency is suspected or diagnosed by screening, further tests will help to confirm the correct diagnosis and broaden the evaluation of severity. Acute Management: Avoidance of Triggers: The diet of patients with G6PD deficiency should consist of an avoidance of foods and medications that have precipitated hemolysis including sulphonamides, nitrofurantoin and fava beans. Hemolysis Monitoring:
Regular monitoring of the baby’s hemoglobin level and signs of jaundice is necessary. In severe cases, phototherapy or exchange transfusion may be required if jaundice worsens significantly.
There are severe cases that may require phototherapy or exchange transfusion if jaundice worsens of the patient. Supportive Care: Monitoring for Complications: Amongst the bilateral complications include anemia, and manifestations of bilirubin encephalopathy, also known as kernicterus. Long-term Management and Education:
Educate parents and caregivers as to what the condition entails, and advise them to be always on the lookout for the manifestations of hemolysis and strategies to avoid the known triggers.
Glucose-6-phosphate dehydrogenase deficiency is a hereditary disease which is attributed to deficiency of the G6PD gene enzyme. This enzyme is significant in the membrane of RBCs since it provides a protection from oxidative radicals. Due to low activity of G6PD the RBCs become susceptible to oxidative stress and this results in hemolysis which is the destruction of the red blood cells.
G6PD deficiency is one of the most common enzyme deficiencies in the world; the worldwide prevalence of this disorder is approximately 400 million; the highest rates of G6PD deficiency are registered in Africa, countries of Mediterranean, Middle East and Southeast Asia. The disease is X-linked meaning that males are more affected though the female can be affected though they can be carrier or mildly affected if the mutation is from both parents.
G6PD deficiency in the newborn will restrict the ability of red blood cells to cope with oxidative stress. G6PD is an enzyme that protects cells in the body from oxidative destruction through the generation of NADPH required in the maintenance of glutathione, an essential antioxidant. In G6PD deficiency, because the enzyme activity is low, the RBCs become susceptible to oxidative stress that arises from infections, some drugs, or foods. This susceptibility can lead to a condition called hemolysis, which is the destruction of the red blood cells.
The effect of oxidative stress in neonates is hemolysis whereby the death of the red blood cells occurs therefore neonatal jaundice and hyperbilirubinemia. Due to the immaturity of the liver, the metabolic pathways of bilirubin are not as efficient in newborns, and that severe hyperbilirubinemia, which can trigger conditions such as kernicterus, or brain damage resulting from bilirubin, is highly prone to occur in newborns.
Causes of G6PD deficiency in newborn include a hereditary genetic defect most of the time. This condition is X-linked recessive, this is a condition passed on from the mother to child through the X chromosome. Thus, and males are more frequently affected as they possess only one X chromosome while females can be affected if they have one mutated X chromosome.
The deficiency results in the reduced capacity of the enzyme to prevent oxidative destruction of red blood cells, that can cause hemolytic anemia especially when provoked by certain causes such as specific drugs, certain conditions. In newborns it may be manifested as jaundice within the first hours after birth because of increased red blood cell breakdown.
Severity of Deficiency: Severe forms of G6PD deficiency pose a risk to the newborns and they are at sometimes prone to certain complications.
Presence of Hemolysis: Some of the hematological changes that can be observed that affects prognosis includes jaundice and anemia that may be evidence of the degree of hemolysis.
Infection: Infections can also modulate hemolysis which affect outcomes.
Exposure to Triggers: Patients with any condition that can cause hemolytic disease are advised to avoid taking certain drugs or foods that lead to the destruction of the patient’s RBCs.
Age Group:
G6PD deficiency is a genetic disease associated with red blood cell and it results in hemolytic anemia. It is congenital; hence, screen test can reveal it in the newborns. The condition is inherited in the X-linked pattern, and therefore, is much more common in males than in females, although females can be asymptomatic or manifest the condition as mild.
Jaundice
Hepatosplenomegaly
Pallor
Signs of Anemia
Hemoglobinuria
Neonatal Jaundice
Hemolytic Anemia
Infections
Medications
Dietary Considerations
Neonatal Jaundice: The most frequent one which can occur within the initial 24-48 hours of the infant’s life.
Hemolytic Anemia: This leads to the symptoms like pallor, lethergy which are possibly due to the high reticulocyte count.
Direct Hyperbilirubinemia: High Serum unconjugated bilirubin causes kernicterus if not controlled.
These presentations may be compounded by infections or use of certain medications or certain foods. Thus, early diagnosis and treatment must be provided to avoid more severe consequences.
Physiologic Jaundice of the Newborn
Hemolytic Disease of the Newborn (HDN)
Congenital Infections
Treatment Paradigm:
Early Diagnosis: It is recommended that there should be early diagnosis of the condition with an aim of providing early intervention to avoid further problems.
Avoidance of Triggers:
Newborns with G6PD deficiency should avoid substances that can trigger hemolysis. Some of the causes of haemolytic anaemia encompasses use of some drugs such as sulpha drugs and aspirin, specific foodstuffs such as fava beans and infections. It is imperative that the caregivers should know the type of stimuli that could lead to the above development.
Monitoring: Another aspect that should not be overlooked is the monitoring of the hemoglobin level of the newborn as well as the level of bilirubin which normally shows high level in infancy and the first weeks of birth. This also assist in the early diagnosis of hemolysis or jaundice.
Management of Jaundice: If the newborn develops jaundice, then phototherapy may be used to regulate the bilirubin. This requires constant supervision to modify treatment depending on the bilirubin levels and the overall health of the infant.
Supportive Care: A supportive care includes the maintenance of an adequate intake of fluids and nutrients, and regular check of the patient’s haemoglobin level and other complications that are associated with the disease.
Endocrinology, Metabolism
Monitoring for Infections: Infections would over activate some factors that would mean a further breaking down of the red blood cells in the G6PD deficient infants.
Safe Feeding Practices: The infant must be adequately hydrated by an adequate fluid intake since it may have dehydration, which may increase the risk of hemolysis. Avoidance of Specific Foods: There may be situations where specific foods must be avoided when hemolysis is induced. For example, there is a suspicion that consumption of fava beans may elicit hemolytic reactions in patients with G6PD deficiency. Education for Caregivers:
Educate caregivers about the condition, including presenting them with information that could help to recognize hemolysis signs (such as jaundice, irritability, or changes in stool color), and encourage them to try to avoid known triggers.
Endocrinology, Metabolism
Endocrinology, Metabolism
Identification and Diagnosis:
Screening: Several researchers have conducted studies on the screening of the G6PD deficient patients especially among the newborns using the technique of newborn screening.
Diagnostic Testing: Screening for G6PD deficiency implies that, in case G6PD deficiency is suspected or diagnosed by screening, further tests will help to confirm the correct diagnosis and broaden the evaluation of severity. Acute Management: Avoidance of Triggers: The diet of patients with G6PD deficiency should consist of an avoidance of foods and medications that have precipitated hemolysis including sulphonamides, nitrofurantoin and fava beans. Hemolysis Monitoring:
Regular monitoring of the baby’s hemoglobin level and signs of jaundice is necessary. In severe cases, phototherapy or exchange transfusion may be required if jaundice worsens significantly.
There are severe cases that may require phototherapy or exchange transfusion if jaundice worsens of the patient. Supportive Care: Monitoring for Complications: Amongst the bilateral complications include anemia, and manifestations of bilirubin encephalopathy, also known as kernicterus. Long-term Management and Education:
Educate parents and caregivers as to what the condition entails, and advise them to be always on the lookout for the manifestations of hemolysis and strategies to avoid the known triggers.
Both our subscription plans include Free CME/CPD AMA PRA Category 1 credits.
Digital Certificate PDF
On course completion, you will receive a full-sized presentation quality digital certificate.
medtigo Simulation
A dynamic medical simulation platform designed to train healthcare professionals and students to effectively run code situations through an immersive hands-on experience in a live, interactive 3D environment.
medtigo Points
medtigo points is our unique point redemption system created to award users for interacting on our site. These points can be redeemed for special discounts on the medtigo marketplace as well as towards the membership cost itself.
Community Forum post/reply = 5 points
*Redemption of points can occur only through the medtigo marketplace, courses, or simulation system. Money will not be credited to your bank account. 10 points = $1.
All Your Certificates in One Place
When you have your licenses, certificates and CMEs in one place, it's easier to track your career growth. You can easily share these with hospitals as well, using your medtigo app.
