Glucose-6-phosphate deficiency: Difference between revisions
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==Background== | ==Background== | ||
[[File:Pathology of G6PD deficiency 2.png|thumb|G6PD pathway]] | |||
*Abbreviation: G6PD | |||
*X-Linked recessive; protects against [[Malaria]] | *X-Linked recessive; protects against [[Malaria]] | ||
*African | *Mild form exists, which predominantly affects men of African decent. It is typically self-limited because it affects older RBCs (with less G6PD left) | ||
*Nonimmune mediated hemolytic anemia | *More severe form occurs predominantly in men of Mediterranean descent (specifically Greeks and Italians). Causes a more severe hemolytic anemia because RBCs of any age are involved | ||
*Nonimmune mediated [[hemolytic anemia]] | |||
*Stress or drugs can cause hemoglobin precipitation within the RBC | *Stress or drugs can cause hemoglobin precipitation within the RBC | ||
**Leads to removal of the cell from circulation via the spleen | **Leads to removal of the cell from circulation via the spleen | ||
==Clinical== | ===Precipitants=== | ||
*[[Infection]] | |||
*Hemolytic anemia | *Fava beans | ||
*Jaundice | *Medications | ||
**[[Nitrofurantoin]] | |||
**[[Phenazopyridine]] | |||
**[[Dapsone]] | |||
**[[Chloramphenicol]] | |||
**[[Antimalarials]] (e.g. [[quinine]], [[mefloquine]]) | |||
**[[Sulfonamides]] | |||
**[[Ciprofloxacin]], norfloxacin | |||
**[[Methylene blue]] | |||
**Vitamin K analogues (e.g. [[warfarin]]) | |||
==Clinical Features== | |||
[[File:Jaundice.jpg|thumb|Pediatric jaundice with icterus of sclera.]] | |||
*[[Hemolytic anemia]] | |||
*[[Fatigue]] | |||
*[[Jaundice]] | |||
*Splenomegaly | *Splenomegaly | ||
==Complications== | ==Complications== | ||
*Severe hemolysis and anemia | *Severe hemolysis and [[anemia]] | ||
*Cardiovascular collapse | *[[shock|Cardiovascular collapse]] | ||
==Differential Diagnosis== | |||
{{Anemia DDX}} | |||
== | ==Evaluation== | ||
===Workup=== | |||
*CBC | *CBC | ||
**Heinz Bodies | **Heinz Bodies and Bite Cells on peripheral smear | ||
*Retic Count | *Retic Count | ||
**Retic count high | **Retic count high | ||
***Coombs negative: G6PD, SCD, spherocytosis, microangiopathic hemolysis | ***Coombs negative: G6PD, SCD, spherocytosis, microangiopathic hemolysis | ||
==Management<ref>Schick P et al. eMedicine. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Treatment & Management. Sep 29, 2015. http://emedicine.medscape.com/article/200390-treatment#showall</ref>== | ==Management<ref>Schick P et al. eMedicine. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Treatment & Management. Sep 29, 2015. http://emedicine.medscape.com/article/200390-treatment#showall</ref>== | ||
*Identify and discontinue precipitating agent | *Identify and discontinue precipitating agent | ||
*Supportive care for anemia, with transfusions rarely needed | *Supportive care for anemia, with [[pRBCs|transfusions]] rarely needed | ||
*Hemolysis usually self-limited, resolving within 8-14 days | *Hemolysis usually self-limited, resolving within 8-14 days | ||
*Infants | *Infants | ||
**Prolonged neonatal jaundice due to G6PD deficiency may require phototherapy | **Prolonged neonatal jaundice due to G6PD deficiency may require phototherapy | ||
**Exchange transfusion for severe neonatal jaundice | **[[Exchange transfusion]] for severe neonatal jaundice | ||
== | ===Alternative Antibiotics=== | ||
* | *[[Cephalexin]] (Keflex) | ||
== | ==Disposition== | ||
==Also See== | ==Also See== | ||
| Line 58: | Line 64: | ||
==References== | ==References== | ||
<references/> | <references/> | ||
[[Category:Heme/Onc]] | [[Category:Heme/Onc]] | ||
Latest revision as of 19:24, 6 January 2021
Background
- Abbreviation: G6PD
- X-Linked recessive; protects against Malaria
- Mild form exists, which predominantly affects men of African decent. It is typically self-limited because it affects older RBCs (with less G6PD left)
- More severe form occurs predominantly in men of Mediterranean descent (specifically Greeks and Italians). Causes a more severe hemolytic anemia because RBCs of any age are involved
- Nonimmune mediated hemolytic anemia
- Stress or drugs can cause hemoglobin precipitation within the RBC
- Leads to removal of the cell from circulation via the spleen
Precipitants
- Infection
- Fava beans
- Medications
- Nitrofurantoin
- Phenazopyridine
- Dapsone
- Chloramphenicol
- Antimalarials (e.g. quinine, mefloquine)
- Sulfonamides
- Ciprofloxacin, norfloxacin
- Methylene blue
- Vitamin K analogues (e.g. warfarin)
Clinical Features
- Hemolytic anemia
- Fatigue
- Jaundice
- Splenomegaly
Complications
- Severe hemolysis and anemia
- Cardiovascular collapse
Differential Diagnosis
Anemia
RBC Loss
RBC consumption (Destruction/hemolytic)
- Hereditary
- Acquired
- Microangiopathic Hemolytic Anemia (MAHA)
- Autoimmune hemolytic anemia
Impaired Production (Hypochromic/microcytic)
- Iron deficiency
- Anemia of chronic disease
- Thalassemia
- Sideroblastic anemia
Aplastic/myelodysplastic (normocytic)
Megaloblastic (macrocytic)
- Vitamin B12/folate deficiency
- Drugs (chemo)
- HIV
Evaluation
Workup
- CBC
- Heinz Bodies and Bite Cells on peripheral smear
- Retic Count
- Retic count high
- Coombs negative: G6PD, SCD, spherocytosis, microangiopathic hemolysis
- Retic count high
Management[1]
- Identify and discontinue precipitating agent
- Supportive care for anemia, with transfusions rarely needed
- Hemolysis usually self-limited, resolving within 8-14 days
- Infants
- Prolonged neonatal jaundice due to G6PD deficiency may require phototherapy
- Exchange transfusion for severe neonatal jaundice
Alternative Antibiotics
- Cephalexin (Keflex)
Disposition
Also See
References
- ↑ Schick P et al. eMedicine. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Treatment & Management. Sep 29, 2015. http://emedicine.medscape.com/article/200390-treatment#showall