1. Glucose 6 phosphate dehydrogenase deficiency

2. Outline session Introduction Epidemiology Pathophysiology Clinical presentation Investigations Managements

3. Introduction Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a hereditary condition resulting from a structural defect in G6PD, a "housekeeping" enzyme that is particularly important for the survival of red blood ells and their ability to respond to oxidative stress.

4. Epidemiology G6PD deficiency is the most common enzyme deficiency in humans, affecting about 400 million people worldwide, with a high prevalence in persons of African, Asian, and Mediterranean descent. It is inherited as an X-linked recessive disorder, and thus most often affects males. G6PD deficiency is polymorphic, with more than 300 variantsG6PD deficiency confers partial protection against malaria, and geographic prevalence of the disorder correlates with the historical distribution of malaria. This probably accounts for the persistence and high frequency of the responsible genes

5. Pathophysiology G6PD deficiency is an X-linked genetic disorder with 187 known allelic mutations. G6PD, a critical enzyme in the pentose phosphate pathway, exhibits diminished leading to inadequate production of protective intracellular thiols during oxidative stress. The deficiency is ubiquitous across cell types, erythrocytes are particularly vulnerable to oxidative stress in the G6PD-deficient state, and the disease has been associated with neonatal hyperbilirubinemia, acute hemolysis, and chronic nonspherocytic hemolytic anemia.

6. Signs and symptoms of G6PD deficiency Neonatal jaundice Episodes of intravascular hemolysis and consequent anemia, triggered by infections, medicines that induce oxidative stresses, fava beans, and ketoacidosis. Hemolysis begins 24 to 72 hours after exposure to oxidant stress. Patients with severe hemolysis present with weakness, tachycardia, jaundice, and hematuria. Chronic hemolytic anemia

7. Tests to diagnose hemolysis include Complete blood cell count (CBC) and reticulocyte count Lactate dehydrogenase (LDH) level Indirect and direct bilirubin level Serum haptoglobin level Urinalysis for hematuria Urinary hemosiderin Peripheral blood smear (with Heinz body prep)

8. emi-quantitative tests -The fluorescent spot test (not reliable in females) Quantitative tests (spectrophotometric) - the criterion standard. Point-of-care tests – Newer versions are quantitative; potential for use in both males and females, in basic clinical laboratories in both high- and low-resource settings

9. Management Most individuals with (G6PD) do not need treatment. They should be taught to avoid drugs and chemicals that can cause oxidant stress. Identification and discontinuation of the precipitating agent is critical to manage hemolysis in patients with G6PD deficiency

10. Mxn ct… Anemia should be treated with appropriate measures, recognizing that hemolysis is self-limited and often resolves in 8 to 14 days. Transfusions are rarely indicated. Splenectomy is usually ineffective. Infants with prolonged neonatal jaundice as a result of G6PD deficiency should receive phototherapy with a bili light.

11. Exchange transfusion may be necessary in cases of severe neonatal jaundice or hemolytic anemia caused by favism. However, Samanta and colleagues found that in neonates with idiopathic hyperbilirubinemia, transfusion with G6PD-deficient blood was significantly less effective than transfusion with G6PD-normal blood.

12. Patients with chronic hemolysis or non-spherocytic anemia should be placed on daily folic acid supplements. Consultations with a hematologist and a geneticist should be sought.

13. Nursing dx Risk For Injury (CNS Involvement) related to prematurity, hemolytic disease, asphyxia, acidosis hypoproteinemia, and hypoglycemia. Possibly evidenced by…… Desired Outcomes Neonate will display indirect bilirubin levels below 12 mg/dl in term infant at 3 days of age. Neonate will show resolution of jaundice by end of the 1st wk of life. Neonate will be free of CNS involvement.

14. N dx ct… 1.Nursing Interventions Assess infant/maternal blood group and blood type. 2. Rationale ABO affect 20% of all pregnancies and most commonly occur in mothers with type O blood, whose anti-A and anti-B antibodies pass into fetal circulation, causing RBC agglutination and hemolysis. ABO and Rh incompatibilities increases the risk for jaundice. Maternal antibodies cross the placenta in Rh- negative women who had been previously sensitized due to Rh- positive infant. Antibodies attach to fetal Rbc’s and increase the risk of hemolysis.

15. References; Guideline] Guide to G6PD deficiency rapid diagnostic testing to support P. vivax radical cure. World Health Organization. Available athttps://apps.who.int/iris/bitstream/handle/10665/272971 /9789241514286-eng.pdf?ua=1. 2018; Accessed: April 30, 2020. Nkhoma ET, Poole C, Vannappagari V, Hall SA, Butler E. The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis. Blood Cells Mol Dis. 2009 May-Jun. 42(3):267-78. [Medline]. Butlers E. Glucose-6-phosphate dehydrogenase deficiency: a historical perspective. Blood. 2008 Jan 1. 111(1):16-24. [Medline]. Richardson SR, O'Malley GF. Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency. 2018 Jan. [Medline].

16. References Peters AL, Van Noorden CJ. Glucose-6-phosphate dehydrogenase deficiency and malaria: cytochemical detection of heterozygous G6PD deficiency in women. J Histochem Cytochem. 2009 Nov. 57(11):1003-11. [Medline]. [Full Text]. Beutler E, Westwood B, Prchal JT, Vaca G, Bartsocas CS, Baronciani L. New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. Blood. 1992 Jul 1. 80(1):255-6. [Medline].