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8/8/2019 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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