Sickle Cell
Disease - Understanding the Genetic Disorder
By Dr.Fourkan
Ali
Sickle
cell anemia is a genetic disease that is present from birth. It is caused by a
mutation in the hemoglobin-beta gene located on chromosome 11. SCD is not
contagious but is a genetic disorder. (Click here to know how sickle cell
anemia runs in families
http://www.medindia.net/health-infographics/sickle-cell-anemia.htm) The pattern
of inheritance of sickle cell anemia is autosomal recessive. People from
Africa, India, the Caribbean, the Middle East and the Mediterranean are
commonly affected with SCD.
Normal
red blood cells are round and flexible, which empowers them to go through
through small blood vessels to carry oxygen to all parts of the body but Sickle
cell disease causes red blood cells to form into a crescent shape, like a
sickle. Life span of normal red blood cells is 120 days, but sickle-shaped
cells live only for 10 to 20 days.
The
HBB gene encodes an imperative blood protein called beta globin. Defect in this
gene cause sickle cell anemia. SCD occurs when the child inherits two sickle
cell genes, one from each parent. The severity of the sickle cell disease
varies from person to person. Anemia is the main symptoms for sickle cell
disease.
There
is no cure for sickle cell anemia as it is a genetic disease. The hemoglobin
level in the sickle cell anemia patients is usually between 6 to 8 gm/dl; in
severe cases, blood transfusion is required. Treatments for sickle cell include
antibiotics, pain management and blood transfusions. A new drug treatment,
hydroxyurea, which is an anti-tumor drug, seems to fortify the production of
fetal hemoglobin, a sort of hemoglobin normally found in infants. Penicillin is
used to reduce infections.
Sickle cell anemia is a
genetic disease that is present from birth. It is caused by a mutation in the
hemoglobin-beta gene located on chromosome 11. SCD is not contagious but is a
genetic disorder. The pattern of inheritance of sickle cell anemia is autosomal
recessive. People from Africa, India, the Caribbean, the Middle East and the
Mediterranean are commonly affected with SCD.
Normal red blood cells are
round and flexible, which empowers them to go through through small blood
vessels to carry oxygen to all parts of the body but Sickle cell disease causes
red blood cells to form into a crescent shape, like a sickle. Life span of
normal red blood cells is 120 days, but sickle-shaped cells live only for 10 to
20 days.
The HBB gene encodes an
imperative blood protein called beta globin. Defect in this gene cause sickle
cell anemia. SCD occurs when the child inherits two sickle cell genes, one from
each parent. The severity of the sickle cell disease varies from person to
person. Anemia is the main symptoms for sickle cell disease.
There
is no cure for sickle cell anemia as it is a genetic disease. The hemoglobin level
in the sickle cell anemia patients is usually between 6 to 8 gm/dl; in severe cases,
blood transfusion is required. Medicines for sickle cell anemia incorporate
antibiotics, pain management and blood transfusions. A new drug treatment,
hydroxyurea, which is an anti-tumor drug, seems to fortify the production of
fetal hemoglobin, a sort of hemoglobin normally found in infants. Penicillin is
used to reduce infections.
Source: website
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