Hemophilia 123
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Transcript of Hemophilia 123
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Hemophilia
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What is it?
There are two types of Hemophilia, A and B. Bothare caused by deficiencies in the amount of clottingfactor in the blood (VIII or IX). When the blooddoes not have enough of one of these or is missing
one clotting factor, the bleeding may end veryslowly or may not stop at all. The two types ofHemophilia are linked together by their similarclinical pictures and their similar inheritancepatterns.
The most dangerous part about having Hemophilia
is internal bleeding. If internal bleeding is leftuntreated it can lead to deformity, disability oreven death. In a Hemophiliac the bleedingcontinues until either it clots long enough for it toheal or the person will bleed to death.
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History of Hemophilia The earliest references to hemophilia can
be found in second century Jewish writings. The first attempts to treat hemophilia was
by replacing the clotting factory with bloodplasma taken from pigs and cows. In the 1970s scientists found two
approaches to the disease One that was called prophylaxis required
injecting doses of the clotting factor on aregular basis The second was to inject the factor
whenever the bleeding occurred
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How do you get it? Hemophilia is a genetic disease and is
passed on by the X chromosome (thechromosome that carries the clotting
factor). If a boy gets the X chromosome that
carries the hemophilia gene he will becomea hemophiliac.
If a girl get the gene, she will become thecarrier of the gene, not showing symptomsof the disease though she may have a longor heavy menstrual cycle. The carrier has a50% chance of passing the gene on to her
children every time she gets pregnant.
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How do you get it ctd.
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How do you know if you have
it? When a baby starts to crawl the parents
may notice bruises on stomach, chest,buttock, and back.
The baby may also be fussy, not wanting towalk or crawl
Other symptoms include long nosebleeds,excessive bleeding from biting down on the
lips or tongue, excessive bleeding followinga tooth extraction, excessive bleedingfollowing surgery and blood in the urine.
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Testing for Hemophilia There are two ways
to test for Hemophiliabefore birth though
both may cause asight risk of amiscarriage
One is to take afragment of tissue
from the placenta andlook at the geneticstructure. The DNAcan be examined tosee if the child hasHemophilia.
Another way is to inserta thin needle though themothers abdominal wall.The needle has optical
fibers and a systemwhich enables the doctorto see the womb andfetus. With the image,the doctor can insert aneedle into the umbilical
cord and draw out asmall amount of fetalblood.
After the child is born,several blood tests maybe carried out to
determine if the child hasit.
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Average life span of people with
HemophiliaYear Average age at the timeof death
Treatments available attime
Before 1938 11 none
Before 1968 20 Plasma orWhole bloodtransfusions
1968 Less than 40 Cryoprecipitate
1983 64 Freeze dried clotting
factors
1988 40 ( impact of aids) Same
1999 Normal life span Factors produced bygenetic engineering
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Average life span ctd.
0
10
20
30
40
50
60
70
80
Avrage
age
Before 1938before 1968
1968
1938
1988
1999
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This is a diagram of the joints mostcommonly affected by Hemophilia. It mostoften occurs at the knees, hips, ankles,shoulders, and elbows
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The most common muscles that bleed withHemophilia are those in the the upper arm,upper leg (front and back), the calf and thefront of the groin
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Daily life with Hemophilia Children can not play with toys with
sharp or hard edges.
Sports or other out-side activitiesmay lead to injuries.
The patients will most likely want toclean their teeth properly so diseasesthat can lead to bleeding in the gumswill not occur.
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Sickle cell anemia Mutational substitution of thymine molecule
for adenine in DNA, the codon is altered tocode for the amino acid valine rather than
glutamic acidin the betal globin chain ofhemoglobin.
Hb molecule in deoxygenated state proneto molecular aggregation and
polymerisation.
This gene conferes a degree of resistanceto the malarial organism
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Sickle cell anemia RBC instead of biconcave shape will
be sickle shape.
Hypoxia, infection, hypothermia,dehydration- crisis.
Occassionally Hair on end appearancein radiographs.
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Thalassemia Group of disorders of hemoglobin synthesis
that are characterised by reduced synthesisof either the alpha globin or beta globin
chains of the hemoglobin molecules. Beta Thalessimia:
Short life span of the RBC
Microcytic, hypochromic anemia.
Massive bone marrow hyperplasia,hepatosplenomegaly, lymphadenopathy.
HAIR ON END APPREARENCE.
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