G6PD

Question 1

What type of gene inheritance is G6PD?
And how would a father with g6pd affect his offsprings?
And how would a mother effect her offsprings if she is a carrier?

Answer 1

X linked

Father:
His daughters will be carriers

The sons will be unaffected

Mother:
One affected son
One carrier daughter
One unaffected son& one unaffected daughter

Question 2

Pathophysiology of G6PD?

Answer 2

Depletion of Reduced nadp , inability to reduce glutathione , cant get rid of H2O2 -> henolytic anemia

Question 3

When does a female get G6PD?

Answer 3

1-lyon hypothisis
( random inactivation of normal x)

2-new mutation of normal x in carrier female

3-affected father marries carrier mother

Question 4

If a carrier mother marries an affected father they will produce:

Answer 4

sick female& male
One female carrier
One normal male

Question 5

Drugs that trigger G6PD?

Answer 5

Anti bacteria:
Sulfamethaxzole

Ciprofloxacin , moxifolxacin ( ay shy yntahe b cin)

Chlormaphenicol

Nitrofurnatoin

Antimalaria:
Primaquine
Chloroquine

Antihelminthics
Niridazole

Asprin
Vitamin K
Rasburicase( uric acid clearance used in tumor lysis syndrome)

Question 6

Investigation of G6PD

Answer 6

CBC: hemolytic anemia

Blood film:
Henz bodies
Bite cells ( cookie cells )

G6PD ENZYME LEVEL MIGHT BE NORMAL DURING ATTACK(cause destruction cause increase in retics which is full of G6PD)
REPEAT THE TEST 6 WEEKS LATER / WHEN STABLE

Urine : bright red

Question 7

Tt of G6PD?

Answer 7

Supportive & avoid stressor

Protect the kidney by:
Hydrate

Urine alkalization

Cardiovascular compromise: transfusion