Glucose-6-Phosphate Dehydrogenase Deficiency

GROUP MEMBER: MAHMUD BIN KHAIRUDIN MOHAMMAD ASYRAF BIN YAHYA NGU SIAO TIING CHANG HUI JING JOYCE HONG SHING JO SOON HIE YING SOON HIE JING

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)

Red cells are vulnerable to injury by endogenous and

exogenous oxidants - normally inactivated by reduced glutathione (GSH).

Abnormalities affect the enzymes that are required

for the GSH production

As a result, the ability for red cells to protect

themselves from oxidation injury (which lead to hemolytic anemias) is reduced.

 G6PD gene - on the X chromosome. An important variant G6PD A G6PD A- has a normal enzymatic activity but a

decreased half life.

Red cells lack the capacity for protein synthesis older

G6PD A- red cells become progressively deficient in enzyme activity , more vulnerable to oxidant stress.

 Other variants such as G6PD Mediterranean - found

mainly in the Middle East (where the enzyme deficiency and the hemolysis that occur upon exposure to oxidants are more severe).

Diagnosis

G6PD deficiency diagnosis should be considered in children with a family history of jaundice, anemia, splenomegaly, or cholelithiasis, especially in those of Mediterranean or African ancestry.

A blood test can be

done to check the level of G6PD

Other tests that may be done:

Bilirubin level
Complete blood count, including red blood cell count Hemoglobin - blood Haptoglobin level LDH test Methemoglobin reduction test

Reticulocyte count

When there are sufficient grounds

to suspect G6PD, a direct test for

G6PD is

Beutler fluorescent

spot test.

Beutler fluorescent spot test

The test is positive if:
The blood spot fails to fluoresce under ultraviolet light.

Newborn screening for G6PD

deficiency can be done by

enzyme analysis
or

primary DNA screening test

Major pathologies associated with G6PD deficiency

Hemolytic anemia

Neonatal jaundice

 Both of these conditions are

directly related to the inability of specific cell types to regenerate reduced nicotinamide adenine dinucleotide phosphate (NADPH) this reaction is normally catalyzed by the G6PD enzyme.

Hemolytic anemia
occurs when red blood cells are destroyed faster

than the body can replace them. Exposure to : certain antimalarial drugs and sulfonamides infection stress environmental agents (e.g. moth balls) eating certain foods (e.g. fava beans), ( impact the patients ability to handle oxidative reactions)

 When any one of these agents, or their metabolites,

enters a G6PD deficient red blood cell, hemoglobin becomes denatured, thus destroying its function as the principal oxygen carrying molecule. 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.

Neonatal jaundice
The prevalence of neonatal hyperbilirubinemia is

twice that of the general population in males who carry the defective gene and in homozygous females. It rarely occurs in heterozygous females. The mechanism by which G6PD deficiency causes neonatal hyperbilirubinemia is not completely understood.

 In the neonate with G6PD

deficiency, decreased bilirubin elimination may play an important role in the development of jaundice Hyperbilirubinemia is likely secondary to impairment of bilirubin conjugation and clearance by the liver leading to indirect hyperbilirubinemia

MANAGEMENT OF G6PD dEFICIENCY

P R O B L E M C A N B E A V O I D E D I F A

PERSON GETS TO KNOW WHICH TYPE OF G6PD DEFICIENCY THAT THEY HAVE INHERITED O B T A I N L I S T O F S P E C I F I C C H E M I C A L S AND DRUGS WHICH MAY TRIGGER A REACTION IN THEIR RED BLOOD CELLS O N L Y A F E W D R U G S A N D C H E M I C A L S ARE CERTAIN TO CAUSE ANAEMIA AND JAUNDICE D I F F E R E N T T Y P E S O F G 6 P D DEFICIENCY REACT TO DRUGS AND CHEMICALS DIFFERENTLY AND NOT ALL OF THEM WILL CAUSE A REACTION IN EVERYONE WITH G6PD.

T H E M O S T C O M M O N C H E M I C A L S A N D

DRUGS INCLUDE SOME FORMS OF:

Antibiotics Pain Relievers Malaria drugs Others substances eg. Sulphanamides, Chloramphenicol eg. Paracetamol, Aspirin eg. Primaquine, Pentaquine eg. Moth Balls, Fava (Broad) Beans including its pollen

T H I S L I S T I S N O T A N E X H A U S T I V E

LIST, IF A PERSON HAS BEEN DIAGNOSED AS G6PD DEFICIENT THEY WILL NEED TO BE TOLD THE TYPE OF G6PD DEFICIENCY THEY HAVE INHERITED AND GIVEN A COMPLETE LIST OF THE DRUGS AND CHEMICALS THAT THEY NEED TO AVOID

IF A NEW BORN BABY HAS

INHERITED G6PD DEFICIENCY THE BABY MAY BECOME JAUNDICED SOON AFTER BIRTH THE BABY NEED TREATMENT UNDER A SPECIAL LIGHT CALLED A PHOTO THERAPY LAMP. ONCE THE JAUNDICE IS CORRECTED AND THE OTHER TRIGGER FACTORS ARE AVOIDED THE CHILD SHOULD REMAIN WELL GENERALLY AND THE G6PD DEFICIENCY NEED NOT BE A PROBLEM.