PREPARED BY :FIKRI ABDULLAH ZAWAWI KATHIRAVAN KANIASAN      IKER & RAM
 Glucose-6-phosphate dehydrogenase deficiency is an X- linked recessive hereditary disease charachterised by abnormally l...
 A mode of inheritance in which a mutation in a gene on  the X chromosome causes the phenotype to be expressed  in males ...
 G6PDH is an metabolic enzyme involved in the pentose  pathway,especially important in red blood cell  metabolism. G6PDH...
 Species such as superoxide, hydrogen peroxide, and hydroxyl radical.      At low levels, these species may function in c...
 Pentose pathway also called the phosphogluconate pathway and the hexose monophosphate shunt is a process that generates ...
 G6PDH is closely linked to favism.                      IKER & RAM
 FAVISM may be formally defined as a haemolytic  response to the consumption of broad beans. Favism is a disorder charac...
 Individuals with the disease may exhibit nonimmune hemolytic anemia in response to a number of causes, most commonly inf...
 A form of anemia due to hemolysis – the abnormal  breakdown or red blood cell (RBCs). RBC have a normal life span of ap...
IKER & RAM
 Most indivudual with G6PD deficiency are asymtomatic ASYMPTOMATIC- A disease is considered to be  asymptomatic if a pat...
 SYMPTOMATIC patients are almost exclusively male,  due to the X-linked pattern of inheritence. But female carriers can ...
 Is a process by which one of the two copies of the X-  CHROMOSOME present in females is inactivated. As female mammals ...
IKER & RAM
 Most common in African-American males. Many African-American females are carriers of G6PD deficiency, meaning they can ...
 People of Mediterranean heritage, including Italians,  Greeks, Arabs, and Sephardic Jews, also are commonly  affected. ...
IKER & RAM
 It is known that Africa and the Mediterranean basin are  high-risk areas for the infectious disease malaria. Researcher...
 paleness (in darker-skinned children paleness is    sometimes best seen in the mouth, especially on the lips or    tongu...
 Prevention of haemolysis by prompt treatment of  infection. Avoidance of oxidant drugs and toxin :  1.   sulfonomide (d...
 WIKIPEDIA THOMPSON AND THOMPSON GENETICS IN MEDICINE KIDS HEALTH FROM NEMOURS Mgr. Jiří Novotný. Ph.D.               ...
DEKUJEME MOCKRAT      IKER & RAM
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Glucose 6-phosphate dehydrogenase deficiency

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Glucose 6-phosphate dehydrogenase deficiency

  1. 1. PREPARED BY :FIKRI ABDULLAH ZAWAWI KATHIRAVAN KANIASAN IKER & RAM
  2. 2.  Glucose-6-phosphate dehydrogenase deficiency is an X- linked recessive hereditary disease charachterised by abnormally low levels of glucose-6-phosphate dehydrogenase. IKER & RAM
  3. 3.  A mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males who are hemizygous. Male = XY ( Hemizygous) Female = XX (Homozygous) IKER & RAM
  4. 4.  G6PDH is an metabolic enzyme involved in the pentose pathway,especially important in red blood cell metabolism. G6PDH is the most common human enzyme defect. It also protects red blood cells from the effects of potentially harmful molecules called reactive oxygen species (ROS) IKER & RAM
  5. 5.  Species such as superoxide, hydrogen peroxide, and hydroxyl radical. At low levels, these species may function in cell signalling processes. At higher levels, these species may damage cellular macromolecules (such as DNA and RNA) and participate in apoptosis(programmed cell death). IKER & RAM
  6. 6.  Pentose pathway also called the phosphogluconate pathway and the hexose monophosphate shunt is a process that generates NADPH and pentoses (5-carbon sugar) IKER & RAM
  7. 7.  G6PDH is closely linked to favism. IKER & RAM
  8. 8.  FAVISM may be formally defined as a haemolytic response to the consumption of broad beans. Favism is a disorder characterized by a hemolytic reaction to comsumption of broad bean All individuals with favism show G6PD deficiency. However, not all individuals with G6PD deficiency show favism. IKER & RAM
  9. 9.  Individuals with the disease may exhibit nonimmune hemolytic anemia in response to a number of causes, most commonly infection or exposure certain medications or chemicals. Non-Immune hemolytic anemia General term for hemolysis caused by various : 1. Chemicals = quinolones , sulfonamides 2. Physical agents = arsenic , copper , lead IKER & RAM
  10. 10.  A form of anemia due to hemolysis – the abnormal breakdown or red blood cell (RBCs). RBC have a normal life span of approximately 90-120 days, at which the old cells are destroyed and replaced by the body’s natural processes. The cells are broken down at a faster rate than the bone marrow an produce a new cells. IKER & RAM
  11. 11. IKER & RAM
  12. 12.  Most indivudual with G6PD deficiency are asymtomatic ASYMPTOMATIC- A disease is considered to be asymptomatic if a patient is a carrier for a disease or infection but experiences no symptoms. Asymptomatic infections are also called subclinical infections.(CLINICALLY SILENT) IKER & RAM
  13. 13.  SYMPTOMATIC patients are almost exclusively male, due to the X-linked pattern of inheritence. But female carriers can be clinically affected due to unfavourable lyonization, where random inactivation of an X-CHROMOSOMES. IKER & RAM
  14. 14.  Is a process by which one of the two copies of the X- CHROMOSOME present in females is inactivated. As female mammals have two chromosomes, X- INACTIVATION causes them not to have twice as many as X-CHROMOSOME gene products as males. X-INACTIVATION is random in placental mammal. Once a X-CHROMOSOME is inactivated it will remain inactive throughout the lifetime of the cell and its descendants in the organism = Called BARR BODY. IKER & RAM
  15. 15. IKER & RAM
  16. 16.  Most common in African-American males. Many African-American females are carriers of G6PD deficiency, meaning they can pass the gene for the deficiency to their children but do not have symptoms; only a few are actually affected by G6PD deficiency. IKER & RAM
  17. 17.  People of Mediterranean heritage, including Italians, Greeks, Arabs, and Sephardic Jews, also are commonly affected. The severity of G6PD deficiency varies among these groups — it tends to be milder in African-Americans and more severe in people of Mediterranean descent. IKER & RAM
  18. 18. IKER & RAM
  19. 19.  It is known that Africa and the Mediterranean basin are high-risk areas for the infectious disease malaria. Researchers have found evidence that the parasite that causes this disease does not survive well in G6PD- deficient cells. So they believe that the deficiency may have developed as a protection against malaria. Generally this disease can be also caused by blood tranfusion. IKER & RAM
  20. 20.  paleness (in darker-skinned children paleness is sometimes best seen in the mouth, especially on the lips or tongue) extreme tiredness rapid heartbeat rapid breathing or shortness of breath jaundice, or yellowing of the skin and eyes, particularly in newborns an enlarged spleen dark, tea-colored urine IKER & RAM
  21. 21.  Prevention of haemolysis by prompt treatment of infection. Avoidance of oxidant drugs and toxin : 1. sulfonomide (drugs) 2. sulfones (drugs) 3. naphthalene (toxin) IKER & RAM
  22. 22.  WIKIPEDIA THOMPSON AND THOMPSON GENETICS IN MEDICINE KIDS HEALTH FROM NEMOURS Mgr. Jiří Novotný. Ph.D. IKER & RAM
  23. 23. DEKUJEME MOCKRAT IKER & RAM

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