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HEMOPHILIA By Lammi Adem, Jasmine Warfield, Gerardo Ceballos, Doan Doan.

Student Work Hemophilia

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Page 1: Student Work Hemophilia

HEMOPHILIABy Lammi Adem, Jasmine Warfield,

Gerardo Ceballos, Doan Doan.

Page 2: Student Work Hemophilia

OVERVIEW

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DEFINITIONS OF RELEVANT TERMS

Genetic disease- A genetic disease is a disease that is caused by a change in your DNA.

Clotting Factor- Clotting Factor is the part of the blood that prevent the blood from continuing to flow.

Chromosomes-Chromosomes are the DNA that have been paired off.

Gene- A gene is a piece of the DNA that determines a particular trait.

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WHAT IS HEMOPHILIA

Hemophilia is a genetic disease that causes non-stop bleeding. This is because there is no clotting in the blood.

It is generally passed from mother to son, except in rare cases.

The bleeding from Hemophilia can be internal and cause bruising under the skin.

Most treatments for Hemophilia are to add clotting factor to the person’s blood.

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HISTORY

Hemophilia wasn’t generally known because the people affected usually died before much was known about it.

The most famous case of hemophilia, is that of Alexei Nikolaevich, Tsarevich of Russia. Alexei’s disease was kept hidden from the public because it would upset the public to have a Czar that couldn’t lead.

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THE CAUSES OF HEMOPHILIA

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THINGS TO KNOW

Hemophilia is not contagious like a cold or flu

It is usually inherited, which means that it often runs in families. Hemophilia almost exclusively affects boys.

Hemophilia A and Hemophilia B are caused by and inherited defect in a pair of chromosomes.

The defects affect how much the clotting factor a person will produce and hoe the factor will function

It is caused by a defective gene that is unintentionally passed from mothers to sons via the X chromosome

Some males with the disorder are born to mothers who aren’t carriers. In these cases, a mutation (random change) occurs in the gene as it is passed to the child

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If you have inherited hemophilia, you’re born with the condition. It is caused by a defect in one of the genes that determine how the body makes blood clotting factors VIII or IX. These genes are located on the X chromosomes

Chromosomes come in pairs. Females have two X chromosomes Males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting

factors. A male who has the abnormal gene on his X chromosome will have

hemophilia. A female must have the abnormal gene on both of her X

chromosomes to have hemophilia THIS IS VERY RARE! A female is a “carrier” of hemophilia if she has the abnormal gene

on one of her X chromosomes. Even though you can’t tell if she has the hemophilia gene she is still

carrying it in her X chromosome and can pass it on to her child.

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INHERITANCE PATTERN

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THE FIRST SIGNS

First discovered during infancy or early childhood Bleeding into muscle Deep bruises after receiving shots Prolonged bleeding after male child is

circumcised Prolonged bleeding after umbilical cord is cut

Page 12: Student Work Hemophilia

GENERAL SYMPTOMS

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HEMARTHROSIS

Symptoms of bleeding into joints includes:

•Warmth/tingling feeling in joints, known as aura•Swelling/inflammation in joints, caused by repeated episodes of bleeding•Child/ Infants are reluctant to move arm or legs due to pain

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BLEEDING INTO MUSCLES

Symptoms:BruisingSwellingMuscle hardeningTendernessPain

Especially when large muscle groups are affected

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COMPARTMENT SYNDROME

Complication of bleeding to in certain muscles which puts pressure on arteries and nerves

Symptoms:Weakness and paleness in affected

extremitySwelling and numbnessSevere pain during movementInability to move an extremity

PARALYSIS

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TREATMENTS &

TESTIMONIALS

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TREATMENT OVERVIEW

Genetic- Only women can be carriers- Can be determined by a blood test

Treatment starts at birth Donated blood products can be injected

aiding the replacement of absent or abnormal clotting factors

*Clotting Factors- prevent major blood loss and keep bodily complications from bleeding

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Hemophilia Care

Children with Hemophilia can learn to self-administer their replacement clotting factors as young as 10 years old.

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When do I treat my Hemophilia?

Clotting Factors are replaced:

-Everyday at the same time to regulate with bodily functions (severe cases only)

-On demand when bleeding occurs

-Prior to an event in which bleeding is possible

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CURRENT RESEARCH

The FDA, Food and Drug Association, has approved a new drug that would help people with Hemophilia. The usual treatment, is to give the person clotting factor.

This new formula for the clotting factor would allow the drug to be kept at room temperature. This makes it easier for small hospitals to keep the clotting drugs because of their lack of freezers.

But there is a negative factor towards it. The clotting factor can only be kept for two years instead of three.

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LONG TERM & SHORT TERM EFFECTS

The people have to take medicine for the rest of their lives.

Have to be very careful about injuries.

Have to learn to recognize all of the symptoms of their disease.

Long Term Short Term

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SOURCES http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_signs.html http://www.nlm.nih.gov/medlineplus/ency/article/000538.htm http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_what.html -

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