g6pd

G6PD DEFICIENCY WHAT IS G6PD DEFICIENCY? Glucose-6-phosphate dehydrogenase deficiency, or G6PD deficiency for short, is the most common enzyme deficiency worldwide. Babies with G6PD deficiency have very little or no enzyme called Glucose-6-Phosphate Dehydrogenase (G6PD). An enzyme is a kind of protein that speeds up chemical reactions in the body. The enzyme G6PD is especially important to red blood cells. If this enzyme is lacking or missing, red blood cells are easily destroyed. WHAT CAUSES G6PD DEFICIENCY? If a baby girl gets one defective G6PD gene from either of her parents, she will not have G6PD deficiency because she has another G6PD gene that can do the work (remember: a baby girl has two X chromosomes, thus two G6PD genes). But if she gets two defective G6PD genes from both her parents, she will have G6PD deficiency. On the other hand, a baby boy whose G6PD gene is defective will surely get G6PD deficiency because the Y chromosome has no G6PD gene. A defective G6PD gene will give wrong instructions on how to make the enzyme G6PD. As a result, too little or none of it is made. WHAT ARE THE HARMFUL EFFECTS OF G6PDD? A baby with G6PD deficiency appears and remains healthy until he is exposed to a large amount of oxidative substances. When this happens, his red blood cells are destroyed, a process known as hemolysis. SIGNS AND SYMPTOMS Persons with this condition do not display any signs of the disease until their red blood cells are exposed to certain chemicals in food or medicine, or to stress. Symptoms are more common in men and may include: Dark urine Enlarged spleen Fatigue Pallor Rapid heart rate Shortness of breath Yellow skin color (jaundice) TREATMENT When a child has taken oxidative substances and suddenly shows the signs and symptoms of hemolytic anemia, he is said to have a hemolytic crisis. Blood transfusion, oxygen, and folic acid may be given. The ultimate treatment for G6PD deficiency is gene therapy (replacing a defective gene with a good one), but this is not yet available at the present time. WHAT CAN I DO TO PREVENT A HEMOLYTIC CRISIS? 1. Tell your child's pediatrician that your child has G6PD deficiency. This is very important so that he will not prescribe oxidative drugs in case your child gets ill. He would also be able to watch out for hemolytic crisis and would immediately know what to do just in case it happens. 2. Keep your list of oxidative substances in a handy place. Better yet, post it in a convenient spot on the kitchen wall. Always double-check food, beverage, and medicine labels against the list. 3. Memorize the signs and symptoms of hemolytic anemia: paleness, dizziness, headache, difficulty in breathing, rapid and strong heartbeats, tea-colored urine, and abdominal or back pain. Bring your child to his pediatrician as soon as these signs and symptoms appear. 4. Do not ignore infections. Persistent fever signals an infection. Bring the child at once to his pediatrician. 5. As your child gets older, honestly and gently tell him about his condition and teach him to be careful about what he eats. PREVENTION Avoid food & drugs listed Nuts and Beans (Monggo, togue, sitaw, soya, tofu etc) Ampalaya Tea (Black and Green) Menthol (Mint, toothpaste, oil, candy, etc) Tonic Water Artificial blue coloring Canned meat/tuna, soup Chips Infant Formula Low fat cheese or cheese substitute Margarine Powdered Food Salad dressing Sauces Processed Meat (Sausage, hotdog) Boullion Cubes (Drugs: http://ow.ly/CjiIq) IMPORTANT REMINDERS for G6PD deficiency Individuals MGA MAHAHALAGANG PAALALA SA TAONG MAY G6PD DEFICIENCY 1. If you have coughs, cold or other bacterial or viral infections, make sure to inform your doctor that your have G6PD. (Kung mayroon kang ubo't sipon o iba pang sakit, huwag kalimutang sabihin sa doctor na mayroon kang G6PD deficiency). 2. If you have ingested or were exposed to any medication and your urine became tea-colored inform your doctor immediately. (Kung may nainom kang gamot at and ihi mo ay kulay tsaa, tumawag kaagad ng doktor.) 3. If you have yellowish discoloration of your skin, sclera or any part of your body, consult your doctor immediately. (Kung napansin mong naninilaw ang iyong balat, mata o alinmang bahagi ng iyong katawan, kumunsulta kaagad sa doktor) 4. Avoid ingestion of or exposure to the following drugs and chemicals: (Iwasan and mga sumusunod na gamot at kemikal) - - - - - Oct 1-7 is National Newborn Screening Week Fore more info on G6PD: http://www.newbornscreening.ph/images/stories/downloadables/g6pd-brochure.pdf NEWBORN SCREENING ANO ANG NEWBORN SCREENING? Ang newborn screening ay bahagi ng Philhealth Newborn Care Package Sasabihan kayo ng doktor kung kailangang ulitin ang test kaagad. Ang newborn screening (NBS) ay isang simpleng pamamaraan upang malaman kung ang sanggol ay may congenital metabolic disorder na maaring maging sanhi ng mental retardation o maagang pagkamatay. BAKIT MAHALAGA ANG NBS? Karamihan sa mga sanggol na may congenital metabolic disorders ay mukhang normal pagkapanganak. Sa pamamagitan ng NBS, ang mga kondisyong ito ay maaaring malaman na bago pa lumabas ang mga sintomas. Dahil dito, mabibigyan kaagad ng karampatang lunas upang maiwasan ang mental retardation o maagang pagkamatay. KAILAN GINAGAWA ANG NBS? Ang NBS ay nararapat na isagawa makalipas ang 24 oras pagkapanganak. PAANO ITO GINAGAWA? Kumukuha ng ilang patak ng dugo mula sa sakong ng sanggol, inilalagay sa isang espesyal na papel (filter card), at ipinapadala sa Newborn Screening Center (NSC). SINO ANG MAARING KUMUHA NG DUGO PARA SA TEST NA ITO? Ang NBS ay maaaring gawin ng mga sumusunod: doktor, nars, medical technologist o nasanay na midwife. SAAN MAARING MAG PA NBS? Maaaring magpa-newborn screening sa mga ospital, lying-in o paanakan, health centers, at pribadong klinik. * Ang NBS ay bahagi ng PhilHealth Newborn Package PAANO MAKUKUHA ANG RESULTA? Kunin ang resulta sa ospital/lying-in kung saan ito isinagawa. Ang resulta ng NBS ay maaaring makuha 7-14 working days pagkatanggap ng NSC. Ang positibong resulta ay agad na ipinapapaalam sa mga magulang. Siguraduhing tama ang mga impormasyon ng tirahan at telepono na ibibigay sa ospital/lying-in/health center. ANO ANG IBIG SABIHIN NG RESULTA? NEGATIVE = NORMAL POSITIVE = DALHIN ANG SANGGOL SA DOKTOR PARA SA KARAGDAGANG PAGSUSURI BAKIT MAY IBANG SANGGOL NA KAILANGANG ULITIN ANG TEST? Ito ang mga posibleng kadahilanan sa pag-ulit ng test: - Maaaring ang sanggol ay kinunan ng dugo kulang sa 24 oras mula pagkapanganak. - Maaaring may problema sa blood sample ng bata - Maaaring ang unang test ay nakitaan ng posibleng problema sa kalusugan. ANO ANG AKING GAGAWIN PAG POSITIBO SI BABY? Ipa-konsulta kaagad sa pinakamalapit na ospital o espesyalista ang sanggol para sa confirmatory test at sa iba pang dapat gawin. ANO ANG MANGYAYARI SA DRIED BLOOD SPOT MATAPOS ANG SCREENING? Matapos dumaan sa pagsusuri, ang dried blood spot ay mananatili sa isang ligtas na lugar. Ito ay itatago at maaring gamitin para sa pananaliksik na binigyang-pahintulot ng lupon ng etika para sa kapakinabangan ng nakararami. MAARIN BANG TUMANGGI ANG MAGULANG SA NBS TEST? Ang isang magulang ay maaring tumanggi na ipa-newborn screening ang kanyang anak. Gayunman, kailangan niyang lagdaan ang Katibayan ng Pagtanggi. Kinikilala ng pagtangging ito na maaring malagay sa panganib ang sanggol kung mayroon siyang isa sa mga kondisyong sinusuri ng NBS. PAALALA SA MGA MAGULANG: Ang G6PD Deficiency ay ang pinaka-karaniwang uri ng kondisyon na kasama sa newborn screening (NBS). Anu-anong mga kondisyon ang kasama sa newborn screening? Ang naptalina o moth ball, ilang gamot kabilang ang halamang gamot ay bawal sa mga taong may G6PD Deficiency. Sa kasalukuyan, ang mga kondisyon na sinusuri sa newborn screening ay ang sumusunod: Habang hinihintay ang resulta ng NBS, pinapaalala sa mga magulang na iwasang ilantad ang kanilang mga anak sa naptalina. Lahat ng gamot na ibibigay sa bata ay dapat may preskripsyon ng doktor. 1. Congenital Hypothyroidism (CH) Ang CH ay resulta ng kakulangan o kawalan ng Thyroid Hormone na mahalaga sa pisikal at mental na paglaki ng bata. Kung sa loob ng 2 linggo ay di kaagad masuri at di mabigyan ng hormone ang batang may CH, maari syang maging bansot at magkaroon ng mental retardation. Kung ang resulta ng NBS ay G6PD Deficiency, kumunsulta sa doktor at magpa-confirmatory test upang malaman kung talagang kulang sa G6PD ang bata. Ipakita ang resulta ng confirmatory test sa inyong doktor. FAQs: http://www.newbornscreening.ph/index.php?option=com_content&view=section&layout=blog&id=3&Itemid=60 Tagalog Version: http://www.newbornscreening.ph/images/stories/downloadables/nbs-pbt-12012011.pdf - - - - - HOW THE TEST IS DONE 1. Screening is done within 48 hours or at least 24 hours from birth but not later than 3 days after complete delivery. A newborn placed in intensive care may be exempted from the 3-day requirement but must be tested by 7 days of age. 2. A few drops of blood is drawn from pricking the baby’s heel. 3. Then it is blotched on a special absorbent card and dried for at least 4 hours. 4. The procedure may be done by the physician, nurse, midwife, or medical technologist. 5. If a screening test suggests a problem, the baby’s doctor will follow up with further testing. If those tests confirm a problem, the doctor may refer the baby to a specialist for treatment. Following doctor’s treatment plan can save the baby from lifelong health-related and developmental problems. sana makatulong momsh :)