Hemophilia. Hemophilia A Hemophilia B. Justine Cuaresma Cesia Cisneros Natalia Giles

Transcription

1 Hemophilia Hemophilia A Hemophilia B Justine Cuaresma Cesia Cisneros Natalia Giles

2 Hemophilia is A rare blood disorder in which the patient s blood clots do not normally function. Patients tend to bleed and bruise easily with very slow healing rates. Hemophilia A: Most common type of hemophilia Classic hemophilia Factor VIII deficiency caused by mutations Hemophilia B: A more rare and severe type of hemophilia. Christmas disease: named after Stephen Christmas, a boy who had Hemophilia B. Factor IX deficiency caused by mutations

3 Karyotype Found in X Chromosome

4 Signs and Symptoms Patients with hemophilia bleed most commonly into joints (knees, ankles, elbows), muscles, and from the digestive tract. Those with severe hemophilia may bleed spontaneously. Symptoms may include: Bleeding in the mouth from a cut or bite or from cutting or losing a tooth Nosebleeds for no obvious reason Heavy bleeding from a minor cut Bleeding from a cut that resumes after stopping for a short time

5 IMPORTANT!!! Internal bleeding in the brain is a very serious complication of hemophilia that can happen after a simple bump on the head or a more serious injury. The signs and symptoms of bleeding in the brain include: Long-lasting painful headaches or neck pain or stiffness Repeated vomiting Changes in behavior or being very sleepy Sudden weakness or clumsiness of the arms or legs, or difficulty walking Double vision Convulsions or seizures

6 Methods of treatment Clotting factor replacement distilled from human blood donations Clotting factors products are powders that are packaged in sterile glass viles, which require special storage such as refrigeration. The powder is dissolved in small amounts of sterile water and the solution is injected into a vein or IV infusion. Replacement therapy is mainly used if the patient is participating in sports, bleeding in the stool, or is under a dental procedure. Many clotting factor products are produced by recombinant DNA techniques.

7 Prenatal Tests Blood tests are used to determine the effectiveness of clotting and the levels of clotting factors in the blood. Pregnant women who are known carriers of hemophilia can have the condition diagnosed in their unborn child as early as 10 weeks into their pregnancy. Pre-implantation diagnosis Women have their eggs removed and then fertilized by sperm in a laboratory. The embryos that result from this fertilization are then tested for hemophilia. Only embryos that lack the condition will then be implanted in the womb. Patients with mild hemophilia may not know of their condition until they are adults!

8 Prevention Tips & Mild Remedies Gene therapy Aminocaproic acid is used for oral bleeding Plasmapheresis helps reduce antibody load. Parents are to help prevent their children from playground activities such as monkey bars. get treatment when bleeding happens prevent the patient from rigorous physical activity that can lead to joint bleeding keep their children from sharp objects.

9 Physical characteristics of parents Father: Black hair (BBBb) BB = dominant alleles for black hair Bb= dominant alleles for brown hair Not a carrier of hemophilia X = dominant alleles carrying no genes for hemophilia Mother: Black hair (BBBb) BB = dominant alleles for black hair Bb = dominant alleles for brown hair Carrier of hemophilia xx = recessive alleles carrying hemophilia

10 Punnett Squares HAIR COLOR HEMOPHILIA BB Bb X Y BB BBBB BbBB x Xx Yx Bb BbBB BbBb x Xx Yx 100% Black Hair 50% inheriting the gene for hemophilia 50% not inheriting the gene for hemophilia

11 The outcome The offspring of the normal couple has black hair inherited from both parents. The infant was born with hemophilia, passed on to him by his mother who carries hemophilia in one of her X chromosomes. The child bleeds and bruises easily, although not as often as one with a severe case. Symptoms of hemophilia A began to occur with very large bruises after routine immunizations shortly after childbirth. Sometimes, bruises appear in unlikely places. Once he began crawling, bruises were noticed on the stomach, chest, buttocks, and back of the infant.

12 Children with hemophilia.. - The child s father cannot pass the gene for hemophilia to his sons, though all his daughters will be carriers of the gene. Each male child of a female carrier has a 50% chance of having hemophilia. - Sons inherit hemophilia from their mother, who carries the disease on one of her X chromosomes. - Children can have a mild, moderate, or severe case of hemophilia A, depending on the activity level of factor VIII. - Sometimes, male infants show symptoms of hemophilia A as a newborn, including excessing bleeding after circumcision and large bruises after immunizations. However, children do not often bleed or bruise until they begin to walk.

13 What is Hemopilia? hemophilia_what.html Signs and symptoms Treatments 0,4047,47,550488,00.html Hemophilia in Children conditions/hemophilia.html Sources 13