Sickle-Cell Disease: An Overview
Table of Contents
Causes
Sickle-cell disease results from a genetic error in one base pair of
DNA. The trait is recessive and not sex-linked. The allele is known as
"hemoglobin S." The genetic error affects the form that hemoglobin takes.
In those affected by sickle-cell disease, this causes red blood cells to
harden into irregular sickle shapes.
Normal red blood cell-Sickled red blood cell
Effects on Body Systems
Sickled cells can block blood vessels, affecting many body systems (this effect
is called a crisis). Chronic heart failure, strokes, and organ damage may
result from oxygen deficiencies due to sickle-cell crises. Bones and joints
may also be damaged.
The body recognizes sickle cells as abnormal and destroys them faster than
it can replace them (Mayfield). This starves many body systems of nutrients carried
in the blood, and results in anemia. Other effects may include:
- difficulty in breathing
- pain, swelling and limited mobility (due to bone and joint damage)
- yellow eyes or jaundice
- painful erections in men (priapism)
Symptoms
Specific symptoms of sickle-cell disease include:
- fever
- chest pain
- shortness of breath
- extreme fatigue
- abdominal swelling
- unusual headache
- sudden weakness or loss of feeling
- sudden vision change
- susceptibility to infection
Treatment
Most treatments for sickle-cell disease are specific symptom treatments,
and patients usually receive only painkillers for a crisis (Fackelmann). Other treatment
options include:
- hydroxyurea (Hydrea): a cancer drug that reduces the number of crises
in adults with a severe form of sickle-cell disease (Mayfield).
- gas therapy: inhalation of nitric oxide increases the hemoglobin affinity
for oxygen and prevents it from taking the abnormal shape (Fackelmann).
- bone marrow transplants (Mayfield)
- arginine butyrate: this drug increases fetal hemoglobin, which is a form of hemoglobin that only infants produce (Mayfield)
- blood transfusions (Mayfield)
- early penicillin treatment
Accommodations for Those
Affected
Very few accommodations are made for sufferers of sickle-cell disease,
due to the unpredictable nature of their disease.
Bibliography and Credits
The following sources were used in the making of this page (internet
sources have been excluded):
- Embury, Stephen H. "Sickle Cell Anemia- Care and Treatment." The Western Journal
of Medicine May 1996: 444.
- Fackelmann, Kathleen. "Gas Therapy for sickle-cell anemia." Science News 20 Sept. 1997: 188.
- Falvo, Donna R. Medical and Psychosocial Aspects of Chronic Illness
and Disability. Gaithersburg, MD: Aspen Publishers, Inc., 1991.
- Francis, Yvette Fay. "Sickle Cell Disease." Collier's Encyclopedia
1997 ed.
- Lucarelli, Melissa E. "Hydroxyurea for the Treatment of Severe Sickle
Cell Anemia." Family Physician 1 Feb 1994: 658.
- Mayfield, Eleanor. "New Hope for People with sickle-cell anemia." FDA Consumer May 1996: 16-21.
- Serjeant, Graham R. "Sickle Cell Disease." The Lancet 6 Sept 1997: 725(6).
Related Links
These internet pages have provided information for this page:
Sickle Cell Information
Center Home Page <http://www.emory.edu/PEDS/SICKLE/>
Sickle-Cell
Disease <http://www-rics.bwh.harvard.edu/sickle/menu_sickle.html>
Joint Center for
Sickle Cell and Thalassemia <http://cancer.mgh.harvard.edu/medOnc/sickle.htm>
If you have any questions, e-mail:
jleaf@lan.tjhsst.edu
This page was created by Amy Deal, Thuy-Van Nguyen, John Watson, and
Chris Wiley
Last updated 4-14-98