Glucose6phosphate dehydrogenase g6pd deficiency is a condition in which red blood cells break down when the body is exposed to certain drugs or the stress of infection. Lack of the enzyme g6pd means that red blood cells can be damaged and destroyed when the person is exposed to some chemicals including some medicines or during some infections. Consuming fava beans also known as broad beans has been proven to trigger haemolytic anaemia in those. Glucose6phosphate dehydrogenase deficiency genetic and. Glucose6phosphate dehydrogenase deficiency genetics home. Glucose6phosphate dehydrogenase deficiency congenital hemolytic anemia. Guide to g6pd deficiency rapid diagnostic testing to.
May 30, 20 nonimmune hydrops fetalis nihf comprises the subgroup of cases not caused by red cell antigens alloimmunization. In g6pd deficiency, the red blood cells are missing an important enzyme called g6pd. Glucose6phosphate dehydrogenase g6pd deficiency, one of the most common human genetic enzymopathies, is caused by over 160 different point mutations and. It was discovered in the 1950s as a result of investigations into a selflimited hemolysis that occurred after. It is hereditary, which means it is passed down in families.
In people with glucose6phosphate dehydrogenase deficiency, hemolytic anemia is most often triggered by bacterial or viral infections or by certain drugs such as some antibiotics and medications used to treat malaria. Glucose6phosphate dehydrogenase deficiency nord national. May 08, 2017 glucose 6 phosphate dehydrogenase g6pd deficiency is a hereditary condition in which red blood cells break down when the body is exposed to certain foods, drugs, infections or stress. Hemolytic anemia caused by g6pd deficiency generally occurs after exposure to malaria medications, antiitching drugs, and fava beans. Patients with favism are always g6pd deficient but not all g6pd deficient individuals develop haemolysis when they ingest fava beans. 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.
Chan associate consultant prince of wales hospital poison treatment centre, division of clinical pharmacology department of medicine and therapeutics, the chinese university of hong kong content a case of acute haemolytic anaemia and methaemoglobinaemia g6pd and its metabolic. In patients with g6pd deficiency, haemolytic anaemia may be triggered by specific antibiotics and. Characterisation of the opposing effects of g6pd deficiency. This deficiency can cause hemolytic anemia, usually after exposure. G6pd deficiency is a genetic disorder that most often affects males. Patients with glucose6phosphate dehydrogenase deficiency who are undergoing cardiac surgery may have a more complicated course with a longer ventilation time, more hypoxia, increased haemolysis, and a need for more blood transfusion 16.
G6pd deficiency ask hematologist understand hematology. Glucose 6phosphate dehydrogenase g6pd deficiency is a genetic blood disorder where an acute attack of a haemolytic anaemia occurs. The number of males with both sickle cell trait and g6pd deficiency was significantly greater than expected p less than 0. Learn what this has to do with blood, the problems it can cause and what medicines you should avoid. It has a high prevalence in persons of african, asian, and mediterranean descent. Nov 19, 2018 g6pd deficiency can manifest later in life as severe hemolysis, when the individual is exposed to oxidative agents that range from foods such as fava beans, to diseases such as typhoid, to medications such as dapsone, to the curative drugs for plasmodium p. Glucose 6 phosphate dehydrogenase g6pd deficiency is a hereditary condition in which red blood cells break down when the body is exposed to certain foods, drugs, infections or stress. Enzymopathies g6pd deficiency infections, drugs, low g6pd activity withdrawal of offending drug, ingestion of fava beans measurement treatment of infection membranopathies hereditary spherocytes, family splenectomy in some moderate spherocytosis history, negative dat and most severe cases. Acetylphenylhydrazine 2phynylacetohydrazide aldesulfone sodium sulfoxone c 14 h 14 n 2 na 2 o 6 s 3.
Glucose6phosphate dehydrogenase g6pd deficiency article pdf available in iranian journal of public health 374. Guide to g6pd deficiency rapid diagnostic testing to support. The g6pd deficiency association has a more comprehensive online list of medications that people with g6pd deficiency should avoid. Interaction of sickle cell trait and glucose6phosphate. G6pd is an enzyme that helps protect red blood cells. Glucose6phosphate dehydrogenase g6pd deficiency is a genetic metabolic abnormality. Glucose6phosphate dehydrogenase deficiency, the most common enzyme deficiency world. Anaemias treatment summary bnf content published by nice. Most people who have g6pd deficiency are healthy, but sometimes fever or certain medicines and foods can break down their red blood cells. Glucose6phosphate dehydrogenase deficiency from lancet 2008, 371. Glucose6phosphate dehydrogenase g6pd deficiency is the commonest red cell enzymopathy in humans and has an xlinked inheritance. Glucose6phosphate dehydrogenase deficiency genetics. Glucose6phosphate dehydrogenase deficiency results from mutations in the g6pd gene. Glucose6phosphate dehydrogenase deficiency and the risk of.
Nonimmune hydrops fetalis nihf comprises the subgroup of cases not caused by red cell antigens alloimmunization. G6pd deficiency is an inherited condition in which the body doesnt have enough of the enzyme glucose6phosphate dehydrogenase, or g6pd, which helps red blood cells rbcs function normally. Which medications should be avoided in patients with g6pd. Understanding the relationship between g6pd genotype and the phenotypic expression of the enzyme deficiency is necessary so that severe haemolysis can be avoided. Individuals with g6pd deficiency are susceptible to developing acute haemolytic anaemia when they take a number of common drugs. This deficiency can cause hemolytic anemia, usually after exposure to certain medications, foods, or even infections. Primaquineinduced haemolysis in females heterozygous for. G6pd glucose6 phosphate dehydrogenase hb haemoglobin hct haematocrit idd iodine deficiency disorders. We tested the associations between g6pd deficiency and severe and complicated plasmodium falciparum malaria through a casecontrol study of 2220 case and 3940 control children. Post splenectomy leukaemia megaloblastic anaemia iron deficiency anaemia heinz bodies are precipitated, denatured hb within red cells. Correcting glucose6phosphate dehydrogenase deficiency.
When this process is actively occurring, it is called a hemolytic episode. It is highly common in certain ethnic groups such as. The prevalence of glucose6phosphate dehydrogenase g6pd deficiency and sickle cell trait was determined in 371 cameroonian males and 668 male blood donors in chicago. The cornerstone of management of g6pd deficiency is the avoidance of oxidative stress to red blood cells, once the diagnosis is made. Updating the who g6pd classification of variants and the. The following is a partial list of medications and chemicals that individuals with glucose6phosphate dehydrogenase g6pd deficiency should avoid. Aug 25, 2019 the primary food to avoid is fava beans. In people with g6pd deficiency, either the red blood cells do. G6pd deficiency is a common human genetic condition with many allelic variants causing different levels of enzyme deficiency, so that in some individuals it is asymptomatic whereas in others it can cause severe haemolytic anaemia beutler. Blood is a vital liquid that lows through your veins and arteries. Drugs causing haemolysis in g6pd deficiency subjects. What kinds of tests are available to diagnose g6pd deficiency. Glucose6phosphate dehydrogenase g6pd deficiency is an inherited disorder caused by a genetic defect in the red blood cell rbc enzyme g6pd, which generates nadph and protects rbcs from oxidative injury. Pdf on jan 1, 2017, shahtaj khan and others published g6pd deficiency anemia find, read and cite all the research you need on.
G6pd deficiency occurs when a person is missing or does not have enough of an enzyme called glucose6phosphate dehydrogenase. Diagnosis and management of g6pd deficiency american. Acute hemolytic anemia in g6pddeficient patients is largely preventable by avoiding exposure to fava beans, drugs, and chemicals that can cause oxidant stress. That primaquine and other drugs can trigger acute haemo lytic anaemia in subjects who have an inherited mutation of the glucose 6phosphate dehydrogenase. Glucose6phosphatase dehydrogenase g6pd deficiency is the most common enzyme deficiency in humans, affecting 400 million people worldwide. Diagnosis and management of g6pd deficiency american family. However, there may be instances in which an oxidant drug is absolutely required, or cases in which oxidative stress comes from an infection or other acute medical condition that cannot be avoided.
It occurs when a person is missing or has low levels of the enzyme glucose6phosphate dehydrogenase. G6pd deficiency is a genetic abnormality that results in an inadequate amount of glucose6phosphate dehydrogenase g6pd in the blood. Favism, g6pd deficiency, glucosephosphate dehydrogenase. G6pd deficiency is more common where plasmodium falciparum malaria is or has been endemic. The current version of icd11 0419 will be updated in february 2020. G6pd deficiency differs from sickle cell anaemia in many ways. We did this study in kilifi county, kenya, where the g6pd c. Nadph in turn maintains the levels of glutathione which protects the red cell from oxidative damage. This gene provides instructions for making an enzyme called glucose6phosphate dehydrogenase. Pdf glucose6phosphate dehydrogenase g6pd deficiency. Glucose6phosphate dehydrogenase deficiency orphanet.
Oxidative agents can cause acute haemolytic anaemia in persons with g6pd deficiency. Guide to g6pd deficiency rapid diagnostic testing to support p. It also protects them from substances in the blood that could harm them. Therefore, there is some urgency to submit a proposal to expand upon this classification so as to better. Sep 21, 2015 g6pd deficiency is the most common enzymopathy of man of clinical significance. Asians, africans and mediterranean and more prevalent in males more than females 1,2. Glucose6phosphate dehydrogenase deficiency youtube. Causes of g6pd deficiency is an abnormal gene located in the xchromosome, therefore, it is more common in males. G6pd deficiency is the most common enzymatic disorder of rbcs. Glucose6phosphate dehydrogenase g6pd is an enzyme in the pentose phosphate pathway see image, also known as the hmp shunt pathway. Glucose6phosphate dehydrogenase deficiency, or g6pd deficiency, is a genetic disorder characterized by decreased levels of glucose6phosphate dehydrogenase, which leads to the destruction of.
Dec 03, 2018 g6pd deficiency is a genetic abnormality that results in an inadequate amount of glucose6phosphate dehydrogenase g6pd in the blood. Mar 12, 2014 the enzyme glucose6phosphate dehydrogenase g6pd is one of the enzymes of the pentose phosphate pathway. Correcting glucose6phosphate dehydrogenase deficiency with. It happens when the body doesnt have enough of an enzyme called glucose6phosphate dehydrogenase g6pd. They are also susceptible to developing acute haemolytic anaemia when they eat fava beans broad beans, vicia faba. This enzyme is involved in the normal processing of carbohydrates. Cases were children aged younger than 14 years, who visited the high dependency ward of. Drugs causing haemolysis in g6pd deficiency subjects dr jones c. G6pd converts glucose6phosphate into 6phosphoglucono. Patients need to avoid factors that lead to the production of excess oxidants. The lack of g6pd can lead to red blood cells breaking down too easily haemolysis when the person is exposed to certain triggers, which are. Glucose6phosphate dehydrogenase deficiency wikipedia. G6pd is part of the normal chemistry inside red blood cells. List of all drugs search drug groups, ingredients and trade names access limited to medical personnel and paying members drug names in red are of high risk to all deficiency variants.
G6pd deficiency was discovered in 1950 when some people suffered hemolytic anemia as a result of taking antimalarial drugs primaquin. Consuming fava beans also known as broad beans has been. First, g6pd deficiency is not on its own a generally serious disease. G6pd deficiency is a common human genetic condition with many allelic variants causing different levels of enzyme deficiency, so that in some individuals it is asymptomatic whereas in others it can cause severe haemolytic anaemia. The severity of hemolytic anemia varies among individuals with g6pd. G6pd deficiency most common congenital shunt defect x linked trait affecting males, females are carrier n g6pd is designated as type b found in 11% african american males most common and significant clinical variant is anegative confers partial protection against malaria hemolytic episodes occur on exposure to oxidant.
Aminopyrine pyramidon, amidopyrine antazoline antistine arginine 2amino5guanidinopentanoic acid c 6 h 14 n 4 o 2. Nonimmune hydrops fetalis caused by g6pd deficiency hemolytic. G6pd deficiency was the first described and is the most common and beststudied rbc enzyme deficiency. This is a very important enzyme or protein that regulates. Fava beans cause haemolysis in g6pd beans means heinz mnemonic. This can lead to moderate or severe haemolytic anaemia anaemia means low levels of red blood. Too little g6pd leads to the destruction of red blood cells. It may also be triggered by infections or by certain drugs. The generally accepted classification is as follows.
This can lead to moderate or severe haemolytic anaemia anaemia means low levels of red blood cells, and haemolytic means destroyed red blood cells. G6pd deficiency may present with a wide spectrum of clinical manifestations. G6pd deficiency occurs when a person is missing or does not have enough of an enzyme called glucose6phosphate. Neonates should be screened for g6pd deficiency when family history, ethnic or geographic origin, or the timing of the appearance of neonatal jaundice suggests the possibility of g6pd deficiency. This pathway is involved in keeping an adequate amount of the coenzyme nicotinamide adenine dinucleotide phosphate nadph in cells. The most frequent clinical manifestations of g6pd deficiency are neonatal jaundice, and acute hemolytic anemia, which is usually triggered by an exogenous agent. Pdf living with glucose6phosphate dehydrogenase deficiency. Glucose6phosphate dehydrogenase deficiency and the risk. G6pd deficiency is a genetic disorder in which the body doesnt have enough of an enzyme chemical called glucose6phosphate dehydrogenase g6pd. Nonimmune hydrops fetalis caused by g6pd deficiency. The g6pd deficiency status of an individual can be characterized by genotype or by phenotype table 1. Some g6pd variants cause chronic hemolysis, leading to congenital nonspherocytic hemolytic anemia the intermittent hemolysis seen in g6pd deficiency may be provoked by drugs e. In negroes the disease is selflimiting as reticulocytes have normal enzyme activity. The number of males with both sickle cell trait and g6pd deficiency was significantly greater.
Glucose6phosphate dehydrogenase g6pd deficiency, one of the most common human genetic enzymopathies, is caused by over 160 different point mutations and contributes to the severity of many. There are increasingly effective tools for g6pd genotyping both in terms of cost and timeliness. Glucose6 phosphate dehydrogenase deficiency congenital hemolytic anemia. Identification and discontinuation of the precipitating agent is critical in management of hemolysis in patients with g6pd deficiency. Iron deficiency anaemia v abbreviations x cdc centers for disease control and prevention usa csm cornsoymilk dalydisability adjusted life years id iron deficiency ida iron deficiency anaemia ep erythrocyte protoporphyrin fao food and agriculture organization of the united nations g6pd glucose6 phosphate dehydrogenase hb haemoglobin hct. In people with g6pd deficiency, hemolytic anemia can occur after eating fava beans or certain legumes. The patterns of oxidative haemolysis have been well described in g6pd deficient hemizygous males and homozygous females. Anemia healthy changes national heart, lung, and blood. For males, the genotype is sufficient to unambiguously assign a phenotype. Glucose6phosphate dehydrogenase g6pd, encoded by the g6pd gene on chromosome x, is an enzyme that acts to control oxidative damage in red blood cells. Hemolytic anemia can also occur after eating fava beans or inhaling pollen from fava plants a reaction called favism. G6pd deficiency glucose 6phosphate dehydrogenase leads to a condition called hemolytic anemia. When the body cannot compensate for accelerated loss, anemia develops. Iron deficiency, and specifically iron deficiency anaemia, remains one of the most severe and important nutritional deficiencies in the world today.