What is G6PD deficiency?

If a baby girl gets one defective G6PD gene from either oxidative substances during severe infections or
Glucose-6-phosphate dehydrogenase deficiency, or of her parents, she will not have G6PD deficiency illnesses such as typhoid fever, pneumonia, or kidney
G6PD deficiency for short, is the most common enzyme because she has another G6PD gene that can do the failure.
deficiency worldwide. This is an x-linked inherited disor- work (remember: a baby girl has two X chromosomes, Most drugs with strong oxidative effects are of kinds:
der which means that from the time a baby is born, there thus two G6PD genes). But if she gets two defective 1. antibiotics of the sulfa group
is already something wrong with how his body makes G6PD genes from both her parents, she will have 2. medicines for malaria
and breaks important substances. According to statistics, G6PD deficiency. On the other hand, a baby boy whose 3. some medicines for fever
about 400 million people have G6PD deficiency, and it is G6PD gene is defective will surely get G6PD deficiency
most common in Africa, Southeast Asia and the Middle because the Y chromosome has no G6PD gene. How is G6PD deficiency treated?
East. A defective G6PD gene will give wrong instructions on When a child has taken oxidative substances and
Babies with G6PD deficiency have very little or no how to make the enzyme G6PD. As a result, too little or suddenly shows the signs and symptoms of hemolytic
enzyme called Glucose-6-Phosphate Dehydrogenase none of it is made. anemia, he is said to have a hemolytic crisis. During National Institutes
(G6PD). An enzyme is a kind of protein that speeds up such crisis, the goal of doctors and nurses is to prevent of Health-
chemical reactions in the body. The enzyme G6PD is What are the harmful effects of G6PD deficiency? the harmful effects from getting worse. Blood
especially important to red blood cells. If this enzyme is G6PD has a very small but strategic role in protecting transfusion, oxygen, and folic acid may be given. Philippines
lacking or missing, red blood cells are easily destroyed. the body from substances that can cause damage to The ultimate treatment for G6PD deficiency is gene
Another name for G6PD deficiency is favism because cells or oxidative substances. Because of this important therapy (replacing a defective gene with a good one),
some people who have it, usually those living in the role, G6PD is normally found in all parts of the body. To but this is not yet available at the present time. G l u c os e - 6–
Mediterranean region, react very badly after ingestion of be sure, most parts of the body also keep a "spare"
fava beans. enzyme, one that can do the work of G6PD in case it is As parent, what should I do to prevent a hemolyc
P h os p ha t e
lacking or missing entirely. Unfortunately, this is not the crisis? D e h yd r og e na s e
What causes G6PD deficiency? case with red blood cells. They do not have spare 1. Tell your child's pediatrician that your child has G6PD D e f i ci e n cy
enzymes that can do the work of G6PD. If a baby does deficiency. This is very important so that he will not pre-
In order to understand what causes G6PD deficiency, not have enough G6PD, his red blood cells lack
one must first learn a bit about genes and chromosomes. scribe oxidative drugs in case your child gets ill. He
protection from the harmful effects of oxidative would also be able to watch out for hemolytic crisis and
Genes are like the body's blueprints. They contain substances.
instructions on how specific arts of the body are made. would immediately know what to do just in case it hap-
For example, if the instructions in your hair genes say pens.
A baby with G6PD deficiency appears and remains
your hair is black, your hair will be black. Genes are healthy until he is exposed to a large amount of
packaged into threadlike structures called chromosomes. 2. Keep your list of oxidative substances in a handy
oxidative substances. When this happens, his red blood place. Better yet, post it in a convenient spot on the
A chromosome is very much like a beaded bracelet. The cells are destroyed, a process known as hemolysis.
beads are the different genes that give instructions for kitchen wall. Always double-check food, beverage, and
Red blood cells carry oxygen to all parts of the body. medicine labels against the list.
different part of the body; the entire bracelet is the chro- When they undergo hemolysis, the baby will have
mosome. Genes usually come and act in pairs. One hemolytic anemia. The signs and symptoms of
member of a specific pair comes from the father, and the 3. Memorize the signs and symptoms of hemolytic ane-
hemolytic anemia are paleness, dizziness, headache, mia: paleness, dizziness, headache, difficulty in breath-
other member comes from the mother. The members of tea-colored urine, and abdominal or back pain or both.
a pair are located on paired chromosomes. ing, rapid and strong heartbeats, tea-colored urine, and
Hemolytic anemia, when very severe, can end in death. abdominal or back pain. Bring your child to his pediatri-
All normal human beings have 23 pairs of cian as soon as these signs and symptoms appear.
Destroyed red blood cells are brought to the liver to be
chromosomes. Each of the first 22 pairs contains the broken down to smaller pieces for disposal. One of the
same number and kind of genes. The last and 23rd pair 4. Do not ignore infections. Persistent fever signals an
end products of this process is bilirubin, a yellowish infection. Bring the child at once to his pediatrician.
is the sex chromosomes. They are different from the substance that accumulates in different parts of the
first 22 pairs in that they do not have the same number body when too much of it is produced. Quite often,
and kind of genes. The sex chromosomes contain the 5. As your child gets older, honestly and gently tell him
bilirubin accumulates in the skin and causes it to appear about his condition and teach him to be careful about
genes that determine whether a baby will be a girl or a yellowish. In the worst cases, bilirubin accumulates in www.newbornscreening.ph
boy. what he eats.
the brain and causes mental retardation or death.
There are 2 kinds of sex chromosomes, X and Y. All
Where do oxidave substances come from?
baby girls have two X chromosomes. All baby boys
Hemolysis of red blood cells will only occur IF and
have one X and one Y. The gene that gives instructions
WHEN a G6PD deficient child is exposed to oxidative
on how G6PD is made is found in the X chromosome
substances. Oxidative substances are found in certain
only, thus G6PD deficiency is described as X-linked.
drugs, foods, and beverages. The body also produces
February 2017

www.newbornscreening.ph
My baby did not go through newborn screening. What Where is G6PD Deficiency Confirmatory Tesng done? Is malunggay leaves safe to eat? Because I read in some What are the signs of hemolysis?
should I do to make sure that he/she is not G6PD deficient? At the moment, there are 15 Confirmatory Testing website that malunggay isn't safe for people with G6PD Signs of hemolysis include tea colored urine, yellowish
You can bring your child to a pediatrician for a thorough Centers in the country. You may want to contact them deficiency. discoloration of the skin, weakness and irritability. A child
medical check up. If the age of your baby is already directly regarding their testing schedule. Please visit For as long as it is not included in the official list of NIH may look clinically pale but may actually have normal
beyond the limit for newborn screening, he/she can still www.newbornscreening.ph for details. as foods to avoid, then there is no basis to withhold CBC results. So a CBC should be requested to confirm if
undergo confirmatory testing for G6PD deficiency. malunggay from persons with g6pd. the child has anemia.
However, for the other diseases included in the newborn Is formula milk safe for my son who has G6PD deficiency?
screening, it will depend on the assessment of your Although soya and soy lecithin are both included in the I have a son who has G6PD deficiency and now he has a cold My son exhibited symptoms of a viral infecon (voming,
pediatrician if your baby will need a referral to an list, many products contain very small amount of soya and cough, it is safe to use oregano for his medicaon? lbm, lack of appete). I saw on his diaper that the stain of
endocrinologist or geneticist for further evaluation. including the common milk formulas. There has not Since oregano is not included in the list it can be given. his urine is somewhat tea colored. Should I be worried?
been any report of hemolysis due to milk products However, you should exercise caution in giving What should I do?
My baby has G6PD deficiency and I feel devastated. Did I do containing soya. Soy lecithin, which is present in commercially produced herbal preparations because Bring him to his pediatrician for check up. Please do
something wrong when I was pregnant? Could I have done different brands, is an important component of milk but it they might contain unreported chemicals. Generally, CBC APC, and urinalysis. Check for urine hemoglobin.
something while I was pregnant for my baby to avoid it? does not make up the whole milk. REMEMBER: cough and colds can be treated with lots of fluids. If
You did nothing wrong. It is a genetic disorder, hence, Breastfeeding is still best for babies. Breastfeeding proven to be bacterial in origin, they should be given Have there been reported cases of hemolysis here in the
there is nothing you can do as a mother to prevent it. is healthier for both babies and mothers. antibiotics. Philippines because of G6PD deficiency? If so, what were the
I am breas-eeding my son. When I haven't received the most common causes?
My firstborn was diagnosed with G6PD deficiency. I am Is infant cereal safe for newborns with G6PD deficiency? Yes, there have reports of hemolysis among patients
pregnant again and worried – will my next baby also have it? newborn screening result I ate the foods that need to be So far, there are no reported cases of hemolysis with G6PD deficiency. There are also claims registered
Once you have a child with G6PD deficiency, there is avoided. Will they take effect on my son? secondary to rice infant cereals (eg Cerelac). It contains at PhilHealth. Some of the causes of hemolysis recorded
always a possibility of having a child with G6PD Theoretically, food and chemicals can be excreted a very small amount of soya in the first place. in Philippine Children’s Medical Center are infections
deficiency for every succeeding pregnancies. All your through the milk. If your son did not develop hemolysis (Flu, hepatitis) and exposure to moth balls. Fortunately,
babies must undergo newborn screening. due to that event in the past, then probably they were not Is insect repellant safe to use? none of these patients died because of severe anemia.
excreted at all through the milk or the amount was too If you are not comfortable in using insect repellant, you They were brought immediately to the hospital as soon
Is it possible that the confirmatory test of my child is small to cause significant reactions. can look for an organic type . If not available, you can as the initial signs of hemolysis became evident
negave? just apply the commercial ones on your baby’s clothes.
Yes. If negative, then you do not have to worry about the I have donated blood several mes without knowing I am a What are the chances of ge3ng a different result if we
medicines and the food items. If positive, make sure that G6PD carrier. Can I sll donate blood? What toothpaste brand is safe for babies with G6PD? undergo another Confirmatory Test?
your attending physician knows that your child has Yes, you may still donate. There is no contraindication The amount of menthol that is in ordinary toothpastes so The family of a child confirmed with G6PD deficiency
G6PD deficiency. as a person with G6PD deficiency. There is also no far has not caused hemolysis in G6PD deficient patients. may always opt to have another confirmatory test if they
policy written that you cannot donate. are having doubts. If the result is below the borderline,
I am a parent. Should I get tested for G6PD deficiency? What about blueberries? In other countries, they are not the patient will most likely get a positive result in another
Yes, you may want to have yourself tested by requesting Is it transmissible via blood transfusion? test.
listed as contraindicated food.
for G6PD assay using the confirmatory test in No, it is not transmissible via blood transfusion.
If there is confusion about blueberries then it might be
designated confirmatory centers. However, only males best to avoid it until extensive evidence that it is safe for As a mom, can I use menthol-containing products?
who are G6PD deficient and affected females My baby has G6PD deficiency; vitamins are on the restricted patients with G6PD deficiency becomes available. The use of menthol and camphor containing products
(homozygous for G6PD) can be identified. A female with list. How can I keep him healthy? Please note that patients with G6PD deficiency are not are not recommended if the goal is to reduce or
a carrier status (heterozygous for G6PD) cannot be Multivitamins are generally not contraindicated. Vitamin the same all over the world because of differences in eliminate the pain. These products only divert attention
detected by this kind of test. C or ascorbic acid can be given for as long as the dose mutations and therefore phenotypes, some of them will away from the painful area by producing cooling effects
is within the recommended dosage. Multivitamins are react consistently with some of the items in the list and and sensation on the skin. It is always better to know the
I am trying to conceive. Should I be tested for G6PD considered food supplements, BUT there is no substitute some would not. As an organization, we are just giving real cause/s of the pain/discomfort by consulting your
deficiency? to nutritious, freshly prepared food and a well-balanced the parents some guidance on what to avoid for the good doctor about it.
It is your choice if you want to be tested but the diet. of their children. It is still up to the parents to accept our
probability of having a child with G6PD deficiency does recommendations. Is there a contraindicaon to any vaccinaon for paents
not solely depend on your status. Your spouse's G6PD Is it okay to eat chocolates even they have soy content? with G6PD deficiency?
status can also affect the probability of having a child Although soya is included in the list, many products None.
with G6PD. It will be more practical to just have your new contain very small amount of soya. So generally patients
baby undergo the routine newborn screening after birth. with G6PD deficiency can eat chocolates except if it is a
fava bean coated with chocolates. Please read the
product label.
I. DRUGS TO BE AVOIDED Sulphanilamide/ Sulfanilamide I. OTHERS IMPORTANT REMINDERS for G6PD deficiency
Individuals (MGA MAHAHALAGANG PAALALA SA TAONG
Generic Name Common Brand Names Sulphapyridine Menthol Alaxan Gel
Ben-gay MAY G6PD DEFICIENCY)
A. Antibacterial *Sulphoxone/ Sulfoxone Efficascent Oil
Listerine mouthwash 1. Avoid ingestion of or exposure to the listed drugs
*Nalidixic acid Sulfasalazine, Salazosulfa- Salazopyrin Listerine Pocketpacks
Megascent Oil and chemicals. (Iwasan ang mga nakalistang gamot
pyridine
Nitrofuran Macrodantin Mentopas Medicated at kemikal.
1. Nitrofurantoin Diafuran, Diapectolin, Plaster
E. Antimalarials Omega Pain Killer
2. Furazolidone Furoxone 2. If you have coughs, cold or other bacterial or viral
3. Nitrofurazone / nitrofural Furacin Chloroquine Aralen, Chlorofoz infections, make sure to inform your doctor that you
Camphor Liniments
have G6PD eficiency. (Kung mayroon kang ubo't sipon o iba
*P- aminosalicylic acid *Pamaquine
Naphthalene Moth balls pang sakit, huwag kalimutang sabihin sa doctor na
Primaquine mayroon kang G6PD deficiency).
B. Analgesic/ Antipyretic
Parabenzene dichloride / Toilet deodorizer
Pentaquine dichlorobenzene
*Acetanilid 3. If you have ingested or were exposed to any
F. Miscellaneous
C. Antihelmentic Henna medication and your urine became tea-colored, inform
Acetylphenylhydrazine your doctor immediately. (Kung may nainom kang
*B-naphthol Herbs Cattle gallstone bezoar
Dimercaprol Honeysuckle flower gamot at ang ihi mo ay kulay tsaa, tumawag kaagad sa iyong
*Niridazole Chimonanathus flower doktor.)
Futamide 100% pearl powder
*Stibophan
Figwortflower
Isobutyl nitrate 4. If you have yellowish discoloration of skin, sclera or
D. Sulfonamides and Sul- Acalypha indica
phones
any part of your body, consult your doctor
Mepacrine
IV. DRUGS SAFE TO TAKE IN THERAPEUTIC DOSES immediately. (Kung napansin mong naninilaw ang iyong
Dapsone Lepravir Phenazopyridine Azomir balat, mata o alinmang bahagi ng iyong katawan,
Acetaminophen Paracetamol, tylenol
*Glucosulphone sodium Probenecid kumunsulta kaagad sa doktor.)
Acetophenetidin/ phenacin
Glyburide/ Glibenclamide Euglucon Thiazolesulfone
Aspirin/ Acetylsalicylic acid Alka-seltzer NOTE:
Gluban Urate oxidase/ Rasburicase
Lodulce Aspilets All effort has been made to ensure that the information
Orabetic Cor-80 presented is correct and updated. Data collected are
II. CHEMICALS TO BE AVOIDED Cortal from foreign studies. These drugs, chemicals, food and
*Mafenide acetate drinks may have different reaction to the G6PD
Methylene Blue Ascorbic acid
deficiency mutations found in our country. We
*Salicylazosulphapyridine/
Arsine Chloramphenicol Chlormycetin recommend that this data be followed until local studies
Sulfasalazine Chloro-S have been done. We encourage parents, guardians and
Phenylhydrazine Chlorsig caregivers to continually update themselves on G6PD
Stibophen (2-(2-Oxido-3,5- Klorfen
Toluidine blue deficiency. Some drugs that can cause problems are not
Disulphonatophenoxy)- Oliphenicol
Optomycin available in the Philippines but may be elsewhere and
1,3,2,Benzodioxastibole-4- Trinitrotoluene should also be avoided. These drugs are in italics in the
6-Disulphonate) Pediachlor
Aniline dyes Penachlor table. Make sure that your attending physician knows
Speradex that your child has G6PD deficiency.
Sulphacetamide/ Sulfacetamide Cetapred
III. FOOD/DRINKS TO BE
Sensocet AVOIDED Ciprofloxacin Ciprobay
CIpromax
*Sulphadimidine Fava beans Dingdong nuts, Mr. Bean Cipromet
Qinosyn-500
*Sulphafurazone Red wine Quilox THIS IS JUST AN INFORMATION MATERIAL
Xipro GIVEN TO ALL PATIENTS WHO
Sulphamethazole/ Bacidal Legumes Abitsuelas, Garbanzos,
Bactille Forte Kadyos, Munggo UNDERWENT G6PD CONFIRMATORY
Sulfamethazole Diphenhydramine
Bactrim
Bacxal Isoniazid TESTING, WHETHER DEFICIENT OR NOT.
DLI Cotrimoxazole Blueberry
Forteprim Phenytoin
WHILE WAITING FOR THE RESULT, AVOID
Soya food Taho, Tokwa, Soy Sauce
Globaxol
Quinidine
THE FOOD AND DRUGS LISTED IN THIS
Pharex Cotrimoxazole Tonic water
Ritemed Cotrimoxazole BROCHURE.
**Vitamin K analogues/ Phyto- Hema-K
Septrin Bitter melon / ampalaya menadione Konakion MM
Trim S Phil Pharmawealth/ Atlantic
*Not available in the Philippines **Should be water soluble Phytomenadione 021717