SICKLE CELL DISEASE

EVERYTHING YOU EVER WA N T E D TO K N O W

WHAT IS SICKLE CELL DISEASE?

A group of inherited or genetic disorders affecting hemoglobin. Hemoglobin = the red color in blood that carries oxygen from the lungs to all parts of the body

NORMAL

SICKLE
Sickle-shaped Hard (like a piece of wood) Often gets stuck in small blood vessels Lives for 20 days or less

Disc-shaped Soft (like a bag of jelly) Easily flows through small blood vessels Lives for 120 days

BLOOD FLOW

COMMON TYPES OF SICKLE CELL DISEASE

Sickle Cell Anemia (Hemoglobin SS Disease) Sickle-Hemoglobin C Disease (Hemoglobin SC Disease) Sickle Beta- Thalassemia

HISTORY OF SICKLE CELL

Genetic Mutation Thousands of years ago Parts of Africa, Middle East, Mediterranean Basin, and India Response to Malaria Epidemics

TRANSMISSION OF SICKLE CELL

2 sets of instructions (genes) for making hemoglobin, one set inherited from Mom and one set inherited from Dad. If both sets are sickle (S) hemoglobin gene, person cannot make normal adult (A) hemoglobin. Can only make sickle (S) hemoglobin.

TRANSMISSION OF SICKLE CELL

Persons with one set of sickle (S) hemoglobin instructions and one set of normal (A) hemoglobin instructions can make hemoglobin A as well as hemoglobin S. These persons have the sickle cell trait They are carriers of the hemoglobin S gene.

TRANSMISSION OF SICKLE CELL

People have no control over which copy of the instructions (genes) they pass on to their children. No one should feel guilty about having the Sickle Cell Trait. You can know if you are a carrier of the S gene by receiving a special blood test. Hemoglobin electrophoresis is the name of the most common test.

CLINICAL COMPLICATIONS OF SICKLE CELL DISEASE

Anemia Pain Hand-foot syndrome Infections Acute chest syndrome Damaged spleen Stroke Eye problems Gallstones Jaundice Leg ulcers

PAIN
Common complication Occurs in children and adults May occur anywhere in the body Sickle cells block small blood vessels PAIN Pain episodes often referred to as crises

ANEMIA
Lower than normal number of red blood cells Main Cause = short life of red blood cells

HAND-FOOT SYNDROME

PENICILLIN
Given twice a day every day to prevent serious infections

DAMAGED SPLEEN

Non-functioning spleen

Spleen

Risk of infection

Sickling in blood

Need for penicillin

STROKE

GALLSTONES AND JAUNDICE

Gallstones = result of waste products produced by increased destruction of red blood cells May cause symptoms or not Removal of gallbladder may be done if there are symptoms Eyes may appear yellow (jaundiced)

DEHYDRATION
Fluid loss Dehydration Blocked Blood vessels Pain & Tissue damage

Drink adequate fluid every day

TREATMENT STRATEGIES
Red Blood Cell Transfusions: Acute transfusions- used for pneumonia, severe anemia Chronic Transfusions- major treatment for strokes in children Complications of transfusions include iron overload, infection, antibody formation and transfusion reactions

TREATMENT STRATEGIES
Hydroxyurea: Stimulates fetal hemoglobin production May cause bone marrow suppression, possible malignancy Long term effects are not well understood

TREATMENT STRATEGIES
Bone marrow transplants: Reserved for individuals at very high risk of complications Significant mortality risk Difficulty finding a matched donor Chance of serious complications from the procedure

ACTIONS YOU SHOULD TAKE

Know your hemoglobin status Know the hemoglobin status of your significant other before beginning a family Know the hemoglobin status of your children Seek additional information for you and your family Let others know where they can obtain information

ACTIONS YOU SHOULD TAKE

Let others know where they can obtain information Support family and friends who have sickle cell disease