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The word "hemophilia" is a combination of Greek and Latin root words and affixes.

The
prefix "hemo-" means "blood”, while the suffix “-philia" means "attraction to". Thus, the
combination of both terms means " a condition of attraction to blood".
Hemophilia according to Center for Disease Control and Prevention (CDC) is “an
inherited bleeding disorder in which the blood does not clot properly.” (What Is Hemophilia? |
CDC, 2020).
There are different types of hemophilia, but the two most common types will be,
Hemophilia A (Classic Hemophilia), and Hemophilia B (Christmas Disease). Hemophilia A is
caused by a lack or decrease of clotting factor VIII while Hemophilia B is caused by a lack or
decrease of clotting factor IX.
Some signs and symptoms of hemophilia include “Bleeding into the joints. This can
cause swelling and pain or tightness in the joints; it often affects the knees, elbows, and ankles,
bleeding into the skin (which is bruising) or muscle and soft tissue causing a build-up of blood in
the area (called a hematoma), bleeding of the mouth and gums, and bleeding that is hard to stop
after losing a tooth, bleeding after circumcision (surgery performed on male babies to remove the
hood of skin, called the foreskin, covering the head of the penis), bleeding after having shots,
such as vaccinations, bleeding in the head of an infant after a difficult delivery, Blood in the
urine or stool, and frequent and hard-to-stop nosebleeds.” (What Is Hemophilia? | CDC, 2020).
According to the CDC, hemophilia is caused by “a mutation or change, in one of the
genes, that provides instructions for making the clotting factor proteins needed to form a blood
clot. This change or mutation can prevent the clotting protein from working properly or to be
missing altogether. These genes are located on the X chromosome. Males have one X and one Y
chromosome (XY) and females have two X chromosomes (XX). Males inherit the X
chromosome from their mothers and the Y chromosome from their fathers. Females inherit one
X chromosome from each parent.” “female with one affected X chromosome is a “carrier” of
hemophilia. Sometimes a female who is a carrier can have symptoms of hemophilia. In addition,
she can pass the affected X chromosome with the clotting factor gene mutation on to her
children. Learn more about the inheritance pattern for hemophilia. Even though hemophilia runs
in families, some families have no prior history of family members with hemophilia. Sometimes,
there are carrier females in the family, but no affected boys, just by chance. However, about one-
third of the time, the baby with hemophilia is the first one in the family to be affected with a
mutation in the gene for the clotting factor.” (What Is Hemophilia? | CDC, 2020).
Hemophilia affects 1 of every 5,000 male births. It affects people of all races and
hemophilia A is four times more common that hemophilia B and about half diagnosed have the
severe form. It is diagnosed by performing a blood test to show clotting factor.
The treatment for hemophilia is replacement therapy, this is when the missing blood
clotting factor, clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia
B) are infused to vein pf people with hemophilia.
Classification of hemophilia is determined by the “bleeding symptoms often correlate
with the degree of residual factor level, which is useful to classify hemophilia severity further.
Patients with greater than 5% to 40% of factor activity of normal (mild hemophilia) often present
with bleeding only after significant trauma or surgery. Spontaneous bleeding is uncommon in
mild hemophilia. Typically, the diagnosis is made incidentally or on routine presurgical
laboratory testing. If 1% to 5% factor activity of normal is present (moderate hemophilia),
bleeding usually presents after trauma, injury, dental work, or surgery. In moderate disease,
recurrent joint bleed may be present in up to 25% of cases, and the diagnosis usually gets
delayed. If factor activity is less than 1% of normal (severe hemophilia), bleeding often presents
spontaneously.” (P.Mehta et al., 2021).
The prognosis for hemophilia has risen thanks to the development of the clotting factor
production, which was not available in the 1950’s and 1960’s and only has a life expectancy of
11 years, “In 1964, Judith Pool found the fraction cryoprecipitate from the plasma, which had
large quantities of factor VIII concentrate, and that improved treatment for hemophilia
significantly. Before that, patients with hemophilia could only have treatment with whole blood
or fresh plasma, which lacked sufficient quantities of factor VIII or IX proteins. In the 1970s,
lyophilized plasma concentrates of coagulation factors became available, and this improved
treatment significantly” (P.Mehta et al., 2021).

References

What is Hemophilia? | CDC. (2020, May 12). Centers for Disease Control and Prevention.

https://www.cdc.gov/ncbddd/hemophilia/facts.html

Parth Mehta; Anil Kumar Reddy Reddivari. (2021, February 28). NCBI Bookshelf.

Www.Ncbi.Nlm. https://www.ncbi.nlm.nih.gov/books/NBK551607/

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