An Analysis of Federal Sickle Cell Disease Program FY 1971 - FY 1976 Page: 2
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CRS - 2
II. THE SICKLE CELL DISEASE
"Sickle cell disease" is a comprehensive term which includes sickle cell anemia,
sickle cell trait, and sickle cell variants. It is a "molecular" disease involving
abnormal hemoglobin in red blood cells. Hemoglobin gives normal blood cells their
red color, and is an iron-containing protein that transports oxygen from the lungs to
the various tissues and organs of the body. The abnormal hemoglobin found in persons
with sickle cell disease is designated as "hemoglobin S"; this can be compared to
normal adult hemoglobin, designated "hemoglobin A". Hemoglobin S, when deprived of
oxygen (and depending on several conditions), causes the cell to "sickle", that is,
the cell becomes elongated with pointed ends.
' Sickle cell disease is also a genetic disease. According to the laws of heredity,
each parent contributes to a child only one gene from each pair of genes. If one
parent has a matched set of genes, each member of that set being a mutant gene for
hemoglobin S, then that person is said to be HOMOZYGOUS for sickle cell disease and
would be subject to the sickle cell anemia. However, if only one gene in the set is
a mutant gene, and the other one is normal, then that person is said to be HETEROZYGOUS
for sickle cell disease, and would be considered a sickle cell "trait" carrier and not
necessarily subject to sickle cell anemia. (Carriers of the sickle cell trait may
have sickled cells in their blood, but generally not to the damaging extent of those
persons homozygous for the disease.) Sickle cell disease is not a sex-linked disease.
In order for a child to be a trait carrier (heterozygous), he must have inherited
a normal gene from one parent and a mutant gene from the other. In order for a child
to be subject to sickle cell anemia (homozygo s), hiwould have had to inherit a
sickle cell gene from each parent. Therefore, if boit parents carry the trait but
not the disease itself, there is a 1-in-4 chance that their child will be afflicted
with sickle cell anemia (that is, be homozygous), a 2-in-4 chance that he will carry
the sickle cell trait (that is, be heterozygous), and a 1-in4 chance that he will
have normal hemoglobin. If one parent is homozygois for sickle cell anemia and theiC '
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Chapman, Cynthia B. An Analysis of Federal Sickle Cell Disease Program FY 1971 - FY 1976, report, April 11, 1975; Washington D.C.. (https://digital.library.unt.edu/ark:/67531/metadc992938/m1/4/?q=no.+77%2C+55th+congress: accessed July 18, 2024), University of North Texas Libraries, UNT Digital Library, https://digital.library.unt.edu; crediting UNT Libraries Government Documents Department.