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Description of Disorder:
Sickle cell disease is passed down through
families in which red blood cells form an
abnormal crescent shape. (Red blood cells
are normally shaped like a disc.)
Symptoms:
Don’t usually occur until after the age
of 4 months
Most patients have painful episodes
(crises), which can last from hours to
days, crises affect back bone, long bones
Have attacks of abdominal pain
Bone and chest pain, delayed growth
and puberty
Fatigue, fever, breathlessness,
paleness, and jaundice
Rapid heart rate, poor eye sight,
stokes, skin ulcers
Excessive thirst leading to frequent
urination
Mode of Inheritance:
Sickle cell conditions are inherited by the
parents in much the same way as blood type
and physical traits. Dominant alleles are the
mode.
Chromosome
The mutation occurs in the 6th condon of the
beta globin gene located on chromosome 11.
Most Common In
It is most common in West and Central
Africa where as many as 25% of the people
have sickle cell trait and 1-2% of all babies
are born with a form of the disease.
Frequency of Occurrence
Frequency defers in different nationalities.
However, there is a high occurrence in
African Americans; 1 in 400. In the U.S. it’s 1
in 27000. In the West and Central Africa, it is
1 in 4.
Treatment
The treatment of sickle cell disease involves
preventative measures (health maintenance),
medicines to treat the symptoms and
complications, as well as medicines and blood
transfusions to treat sickle cell directly.