G6PD Deficiency (and its severe case called Favism)

One of the routine tests that hospitals do on newborns in Malaysia is for G6PD deficiency. Do you know what that is? I didn't have a clue neither does hubby or our families. When Reese was born, we were told that he is G6PD deficient and has to stay at least 5 days in the hospital at the NIKU ward for observation. My first reaction was to cry...I thought Reese had some terrible defect or illness!! The pediatrician assured me that it was just a routine procedure. A requirement by the government and it was quite common in Southeast Asia. In that five days... almost every other day Reese was poked at the toes to get blood for blood test. He had very high jaudice and only after 2 months plus before the jaundice disappeared.

So what is G6PD deficiency?

G6PD Deficiency is a hereditary abnormality in the activity of an erythrocyte (red blood cell) enzyme. This enzyme, glucose-6-phosphate dehydrogenase (G-6-PD), is essential for assuring a normal life span for red blood cells, and for oxidizing processes. This enzyme deficiency may provoke the sudden destruction of red blood cells and lead to hemolytic anemia with jaundice following the intake of fava beans, certain legumes and various drugs

The defect is sex-linked, transmitted from mother (usually a healthy carrier) to son (or daughter, who would be a healthy carrier too. This is due to the fact that the structure of G-6-PD is carried on the X chromosome: As stated by Ernest Beutler, M.D., "in females, only one of the two X chromosomes in each cell is active; consequently, female heterozygotes for G-6-PD deficiency have two populations of red cells; deficient cells and normal cells."

The deficit is most prevalent in Africa (affecting up to 20% of the population), but is common also around the Mediterranean (4% - 30%) and Southeast Asia. Please note that there are more than 400 genetic variants of the deficiency. You can determine whether you are G-6-PD deficient by a simple blood test. To determine your variant, you must test yourself at specialized genetic labs.

The Symptoms

• Sudden rise of body temperature and yellow coloring of skin and mucous membrane.
• Dark yellow-orange urine.
• Pallor, fatigue, general deterioration of physical conditions.
• Heavy, fast breathing.
• Weak, rapid pulse.

Risk

With G-6-PD deficiency you can have a perfectly normal life, provided you avoid certain drugs and foodstuffs. It is therefore of great importance to learn whether you or your baby suffer from the deficiency, so that you can watch your diet and drug intake, and warn your physician or pediatrician.

What to do in case of hemolytic crisis

1. Upon detecting the symptoms listed above, you should either call your physician or pediatrician, or go directly to the nearest hospital. Avoid the intake of any drugs.
2. You would most probably be requested to list all foodstuffs and drugs taken in the preceding 48 hours, so try to recall and list them.

What are the chances of passing G6PD to your kids?

A) If the father is unaffected (healthy) and the mother is a carrier (no clinical symptoms):

• One daughter out of two will be a carrier
• One son out of two will be G6PD deficient

B) If the father is G6PD deficient and the mother is unaffected:

• All daughters will be carriers
• All sons will be unaffected

C) If the father is G6PD deficient and the mother is a carrier:

• One daughter out of two will be G6PD deficient
• One daughter out of two will be a carrier
• One son out of two will be G6PD deficient
• One son out of two will be unaffected

D) If the father is unaffected and the mother is G6PD deficient:

• All daughters will be carriers
• All sons will be G6PD deficient

E) If both father and mother are G6PD deficient:

• All daughters will be G6PD deficient
• All sons will be G6PD deficient

How would you call fava beans in other languages?

English: Fava beans, broad beans;
Chinese: Tzan-Doo;
Malay: Kacang Parang

Is there a cure for the condition?

Nope. Just have to avoid certain medication and foodstuff. You can refer to G6PD Deficiency Association for more information on the medication and food stuff to avoid. Before we left the hospital, they gave us a small card that told us some of the things that Reese cannot consume. Besides certain antibiotics and fava beans it also mentioned that he cannot take Chinese herbs and ginger. He cannot touch or even inhale mothballs. After consulting some doctors, there are only certain Chinese herbs that should be avoided and I found this website that describes them. Lew's Info . Apparently ginger can also be taken.

Source: www.g6pd.org