1. PREPARED BY :
FIKRI ABDULLAH ZAWAWI
KATHIRAVAN KANIASAN
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2.  Glucose-6-phosphate dehydrogenase deficiency is an X-
linked recessive hereditary disease charachterised by
abnormally low levels of glucose-6-phosphate
dehydrogenase.
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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)
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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)
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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).
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6.  Pentose pathway also called the phosphogluconate
pathway and the hexose monophosphate shunt is a process
that generates NADPH and pentoses (5-carbon sugar)
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7.  G6PDH is closely linked to favism.
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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.
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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
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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.
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11. IKER & RAM

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)
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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.
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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.
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15. IKER & RAM

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.
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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.
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18. IKER & RAM

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.
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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
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21.  Prevention of haemolysis by prompt treatment of
infection.
 Avoidance of oxidant drugs and toxin :
1. sulfonomide (drugs)
2. sulfones (drugs)
3. naphthalene (toxin)
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22.  WIKIPEDIA
 THOMPSON AND THOMPSON GENETICS IN
MEDICINE
 KIDS HEALTH FROM NEMOURS
 Mgr. Jiří Novotný. Ph.D.
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23. DEKUJEME MOCKRAT
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