Hemophilia

By
Trevor Nelson and
Andy Lease
 Types – Clotting Factors
• I Fibrinogen – Easy bruising
• II Prothrombin – Nosebleeds and bruising
• III Tissue Extract
• IV Calcium
• V - Joint bleeding and other symptoms
• VII – Mild effects
• VIII – Most common type (Hemophilia A)
• IX Christmas factor – The Christmas disease (Hemophilia B)
• X Plasma Thromboplastin Antecedent (PTA) – Joint bleeding
• XI Hageman factor – High occurrence in Jewish population
• XII – Little to no trouble clotting
• XIII Fibrin Stabilizing Factor – No trouble clotting, but after the clot is
formed it is very weak
 General Information
• Hemophilia is one of the oldest known genetic disorders.
• It is characterized by the inability for the blood to clot. It can
lead to hemorrhages or excessive bleeding even from a minor
scrape. Most hemophiliacs suffer from “arthropathy”, or
bleeding in the joints.
• Bleeding occurs due to the inability for the body to produce
the required clotting factors.
• 80% of all cases have an identifiable family history of the
disease.
• The large majority of those affected by hemophilia are males.
• Approximately 1 in 10,000 males have hemophilia.
 Background

• Hemophilia has been around for as long as

human existence, but it became much more
common since Queen Victoria and her
descendants.
• So many people in her family had this
disorder because they had a limited gene
pool.
Royal Family Pedigree
 Causes

• Hemophilia is primarily a genetic disorder,

though about 20% of all cases have no
genetic links.
• The 20% of cases not associated with
genetic traits are due to a mutation in which
a “jumping gene” disrupts the blood
clotting ability of the clotting factor.
 Causes Cont.
• In this punnett square the Male
XH Yo
hemophilic gene is the h
because it is the recessive Female
trait. The H is healthy
clotting and the o is XH XHXH XHYo
irrelevant because it is on
the Y chromosome.
• The genes of Hemophilia
are on the X Chromosome. Xh XhXH XhYo
• 25% are effected here.
 Cause Cont.

• When the mother is a carrier and the father

is unaffected there is a 50/50 chance of their
son having hemophilia and their daughter
becoming a carrier.
• When the father is a carrier of hemophilia
and the mother is not all the daughters will
be carriers but their sons will be normal.
 Cure
• In mild forms, plasma transfusions can be
administered to help clot the blood.
• Physiotherapy can help to strengthen the
muscles and joins, which will decrease the
change for internal bleeding.
• Currently, research is being done that is
attempting to alter the genetic makeup and
change the clotting factor.
 Source List

• Microsoft Encarta Encylopedia 2004

• Http://www.geocities.com/hemophiliaclub/i
nfo.html
• http://www.liverpool.k12.ny.us/standards/ls
tandards/curriculum/sci/g6sci/punnett.html
• http://www.people.virginia.edu/~rjh9u/royl
hema.html