Anemia defisiensi g6pd pdf

Kadar bilirubin neonatus dengan dan tanpa defisiensi. Defisiensi g6pd adalah kelainan akibat mutasi pada gen protein g6pd, menyebabkan sejumlah penyakit, seperti anemia hemolitik akut, anemia hemolitik kronik non spherositik, hiperbilirubinemia pada neonatus, kecenderungan. Causes of g6pd deficiency g6pd deficiency is an inherited disorder. Defisiensi enzim glukosa 6 fosfat dehidrogenase g6pd download as powerpoint presentation. G6pd catalyzes the first reaction in the pentose phosphate pathway, which is the only nadphgeneration process in mature red cells. Defisiensi g6pd merupakan sebuah kelainan genetik metabolik yang menyebabkan kadar enzim g6pd dalam darah tidak terpenuhi. Aktivitas g6pd yang rendah pada penderita dengan riwayat favism. Dosis oral untuk anemia defisiensi besi sebesar 100200 mg per hari. Infeksi pada neonatus defisiensi g6pd meningkatkan kadar bilirubin secara bermakna sari pediatri. Hemolytic anemia, a condition where the body destroys red blood cells prematurely. Sickle cell anemia, an inherited disorder characterized by abnormal, crescentshaped red blood. Dalam penyusunan makalah ini, saya banyak mengalami kesulitan dan hambatan, hal ini disebabkan oleh keterbatasan ilmu pengetahuan yang saya miliki. Introduce the systemic classification of anemia on the basis of morphology and red blood cell production.

Kondisi klinis defisiensi g6pd pada eritrosit dapat menimbulkan manisfestasi klinik berupa anemia hemolitik akut, anemia hemolitik kronik, hiperbilirubinemia pada neonatus, manifestasi klinik yang lain seperti sepsis, gagal ginjal akut sari, 2007 selama ini pengamatan gejala klinik yang terjadi sebagai akibat defisiensi g6pd hanya tertuju. G6pd also helps protect red blood cells from oxidative stress. Pdf skrining, diagnosis dan aspek klinis defisiensi. Diagnosis and management of g6pd deficiency jennifer e. G6pd glucose6 phosphate dehydrogenase hb haemoglobin hct haematocrit idd iodine deficiency disorders inacg international nutritional anaemia consultative group iq intelligence quotient nafe edta sodium ferric ethylenediaminetetraacetic acid jecfa joint faowho expert committee on food additives mch maternal and child health. Glucose6phosphate dehydrogenase deficiency also called g6pd deficiency is a genetic disorder that mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. Anemia ini disebabkan oleh gangguan pembentukan dna pada inti eritroblast terutama akibat defisiensi vitamin b12 dan asam folat. In people with g6pd deficiency, hemolytic anemia can occur after eating fava beans or certain legumes. Evaluation of anemia in children american academy of. Anemia defisiensi g6pd adalah anemia yang disebabkan kekurangan enzim g6pd. Glucose6phosphate dehydrogenase deficiency orphanet. Pdf on jan 1, 2007, aaron leong and others published is there a need for. Defisiensi glucose6phosphate dehydrogenase g6pd adalah. May 20, 2019 glucose6phosphate dehydrogenase deficiency, or g6pd deficiency, is a genetic disorder characterized by decreased levels of glucose6phosphate dehydrogenase, which leads to the destruction of.

Hemolytic anemia caused by g6pd deficiency generally occurs after exposure to malaria medications, antiitching drugs, and fava beans. Diagnosis and management of g6pd deficiency american. The major morbidity associated with g6pd deficiency is hemolytic anemia, which in some individuals may be lifethreatening. Kondisi ini ditandai dengan cacat enzim yang menyebabkan kerusakan selsel darah merah hemolisis setelah terpapar tegangan yang berkaitan dengan beberapa infeksi bakteri atau obatobatan tertentu.

Testing should be performed in patients with signs and symptoms of anemia, and a complete evaluation should be performed if iron deficiency is. Nadph yang dihasilkan dalam lintasan pentose fosfat oleh aktifitas g6pd berperan dalam eritrosit untuk mereduksi. Defisiensi g6pd juga merupakan salah satu penyakit defisiensi enzim yang umum terjadi. Defisiensi g6pd pada eritrosit dapat menimbulkan manisfestasi klinik berupa roos et al. Sebagian besar manifestasi varian mutan gen g6pd yang mengakibatkan defisiensi enzim g6pd kurang dari 60% dari normal, terjadi setelah paparan obat atau bahan kimia yang memicu terjadi anemia hemolitik akut. Aplastic anemia, which occurs when the bone marrow fails to produce enough red blood cells. Hemolytisk anemi orsakad av glukos6 lakartidningen. Anemia defisiensi b12 cukup sering dijumpai di indonesia dan anemia defisiensi asam folat sering dijumpai pada wanita hamil. Defisiensi g6pd adalah kelainan akibat mutasi pada gen protein g6pd, menyebabkan sejumlah penyakit, seperti anemia hemolitik akut, anemia hemolitik kronik non. Describe the metabolic and physiologic responses to anemia, with emphasis on those that give rise to the clinical findings c. Glucose6phosphate dehydrogenase deficiency youtube. G6pd deficiency is the most common genetic cause of chronic and drug, food, or infectioninduced hemolytic anemia. Pdf glucose 6phosphate dehydrogenase g6pd deficiency.

The condition most likely responsible for this patients hemolytic process is. Tabel obatobat dan bahan kimia yang dapat menyebabkan hemolisis pada pasien dengan defisiensi g6pd. When something goes wrong in your blood, it can affect your health and quality of life. Your doctor will diagnose anemia with a physical exam and blood tests.

Pdf pendahuluan glukosa6fosfat dehidrogenase g6pd merupakan enzim pengkatalisis reaksi per tama jalur pentosa fosfat dan memberikan efek reduksi pada semua sel dalam bentuk nadph bentuk. Pdf skrining, diagnosis dan aspek klinis defisiensi glukosa. Apr 21, 2015 g6pd variants can be classified into three categories class i mutations severe deficiency with no or minimal detected enzyme activity often associated with chronic non spherocytic anemia occurs even in absence of oxidative stress class ii mutations g6pd mediterranean severe deficiency with 1% to 10% residual enzyme actiity g6pd enzyme. Erytrocyter ar sarskilt beroende av g6pd da enzymet ar det enda som forser dem med nadph 3. G6pd deficiency is a genetic abnormality that results in an inadequate amount of glucose6phosphate dehydrogenase g6pd in the blood. G6pd deficiency is a genetic disorder that most often affects males. Defisiensi enzim g6pd merupakan penyakit gangguan enzim paling sering pada manusia. Causes of g6pd deficiency is an abnormal gene located in the xchromosome, therefore, it is more common in males. G6pd, or glucose6phosphate dehydrogenase, is an enzyme that is made in red. If anemia is consistent with iron deficiency in a child six to 36 months of age with low mean corpuscular. Pdf pendahuluan glukosa6fosfat dehidrogenase g6pd merupakan enzim pengkatalisis reaksi per tama jalur pentosa fosfat dan memberikan efek reduksi pada. It happens when the body doesnt have enough of an enzyme called glucose6phosphate dehydrogenase g6pd. Dosis oral yang diberikan dalam bentuk fero sulfat sebesar 200 mg 65 mg besi elemental, diberikan 3 kali sehari.

G6pd deficiency glucose 6phosphate dehydrogenase leads to a condition called hemolytic anemia. It is when the body doesnt have enough of an enzyme called g6pd glucose6phosphate dehydrogenase. Dec 03, 2010 anemia hemolitik akut akibat induksi obat. Anemia defisiensi g6pd adalah suatu gangguan metabolisme bawaan yang menyangkut jenis kelamin.

Glucose6phosphate dehydrogenase deficiency genetics home. Identification and discontinuation of the precipitating agent is critical in management of hemolysis in patients with g6pd deficiency. G6pd deficiency results in haemolysis in response to oxidative stress such as drugs. Favism, g6pd deficiency, glucosephosphate dehydrogenase. Hubungan defisiensi g6pd dan infeksi malaria, 2007.

This is a very important enzyme or protein that regulates. It also protects them from substances in the blood that could harm them. Skrining, diagnosis dan aspek klinis defisiensi glukosa6. Dari segi yang lain, g6pd boleh menjadikan penghidap, lebih kuat melawan penyakit malaria. G6pd merupakan enzim yang sangat penting untuk menjaga selsel darah merah agar tetap berfungsi dengan baik dan normal.

Tambahan kepada anemia hemolytik, seseorang yang kekurangan g6pd boleh menjangka beberapa manifastasi klinikal pada keadaan mereka. G6pd umumnya tidak menunjukkan gejala sampai terpapar berbagai obat pengoksidasi, menderita penyakit infeksi maupun makan kacang fava yang menyebabkan anemia hemolitik dan ikterus. Anemia healthy changes national heart, lung, and blood. Glucose 6 phosphate dehydrogenase deficiency pecha kucha. Penderita favisme selalu defisiensi enzim g6pd namun tidak semua penderita defisiensi g6pd bisa menderita favisme. Penyakit ini lebih sering terjadi pada anak lakilaki. Dec 03, 2018 g6pd deficiency is a genetic abnormality that results in an inadequate amount of glucose6phosphate dehydrogenase g6pd in the blood.

Lima belas persen neonatus mengalami defisiensi g6pd dan 38,6% infeksi. Irondeficiency anemia is the most common form of anemia in the world. Faktorer som kan ge upphov till oxidativ stress och darigenom. Manifestasi klinik defisiensi enzim g6pd lainnya yang dapat menyebabkan anemia hemolitik adalah anemia hemolitik yang disebabkan konsumsi fava bean, vicia faba. Defisiensi enzim g6pd adalah peristiwa kekurangan enzim g6pd yang dapat menyebabkan anemia hemolitik. Hemolytic anemia can also occur after eating fava beans or inhaling pollen from fava plants a reaction called favism. Pdf is there a need for neonatal screening of glucose6. Glucose6phosphate dehydrogenase g6pd is an important element enzyme in the glucose oxidation oxygen utilization process of red blood cells rbcs and for maintaining their normal life span. Vitamin deficiency anemia due to low levels of vitamins c, b12, or folate. Peningkatan bilirubin tak terkonjugasi, laktat dehidrogenase,dan retikulositosis adalah marker kelainan tersebut cappellini,2008. Macrocytic anemias have several causes but with the implementation of folic acid fortification in north america, folic acid deficiency has become a rare cause of megaloblastic macrocytic anemia in that part of the world.

Anemia hemolitik nonsferositik congenital pada defisiensi g6pd. Oxidative chemicals are made when some medicines are taken, when the body is exposed to some chemicals, or when the immune system is working hard to fight an infection. Many types of anemia exist, such as irondeficiency. Enzim g6pd membantu sel darah merah tetap berfungsi normal dan menjaga sel darah merah dari senyawa berbahaya. Aplastic anemia, a condition that can be inherited or acquired. Merupakan anemia yang khas ditandai oleh adanya sel megaloblast dalam sumsum tulang. G6pd deficiency is an inherited disorder caused by a defect or deficiency in the production of that enzyme. Unduh sebagai doc, pdf, txt atau baca online dari scribd. Defisiensi glucose6phosphate dehydrogenase g6pd adalah penyakit keturunan akibat kekurangan enzim g6pd. Two types of hemolytic anemia acute, acquired hemolytic anemia associated with exposure to primaquine, sulfa drugs chronic mild hemolytic anemia common in africans, caucasians, as compared to mediterraneans glucose6phosphate deficiency g6pd. Caring for glucose6phosphate dehydrogenase g6pddeficient.

Apr 02, 2020 acute hemolytic anemia in g6pd deficient patients is largely preventable by avoiding exposure to fava beans, drugs, and chemicals that can cause oxidant stress. Skrining, diagnosis dan aspek klinis defisiensi glukosa6fosfat dehidrogenase g6pd. Jul 09, 2009 glucose6phosphate dehydrogenase deficiency facts by john p. It may also be triggered by infections or by certain drugs. Glucose 6phosphate dehydrogenase g6pd deficiency is the most prevalent enzymopathy in mankind. Pdf skrining, diagnosis dan aspek klinis defisiensi glukosa6. Anemia can make you feel tired, cold, dizzy, and irritable. Tinjauan pustaka peranan enzim glukosa 6 fosfat dehidrogenase. Diagnosis and management of g6pd deficiency american family. In this region, vitamin b 12 deficiency is a far more common cause of megaloblastic macrocytic anemia.