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Anemia
A decrease in the number of red blood
cells, or hemoglobin, in the blood.
Chromosomes
Structure in the nucleus of the cell
containing all the genes.
Fetal Hemoglobin (Hgb.F)
A kind of hemoglobin usually present
during fetal (intrauterine) life, which
has a different chemical structure from
normal adult hemoglobin. After birth,
the fetal hemoglobin in the red blood
cells is gradually replaced by the adult
type of hemoglobin, this process is
usually complete during the first 6
months of life.
Gene
The ultimate unit of inheritance,
carried by the chromosome. Genes
determine our various characteristics
such as hair texture, skin color,
height, shape of nose, lips, etc.,
including the kind of hemoglobin in the
red blood cells.
Genetic Counseling
A communication process between health
care provider and client that emphasizes
providing accurate and up-to-date
information about a genetic disorder in
a sensitive and supportive,
non-directive manner.
Genetic Mutation
A change in hereditary characteristic
due to a permanent change in a gene.
Hemoglobin
The chemical substance (an iron
containing protein) of the red blood
cell which carries oxygen to the
tissues, and gives the cell its red
color.
Hemoglobin C Trait (AC)
The inheritance of one gene for the
usual hemoglobin (A), and one gene for
hemoglobin (C). A person who has
hemoglobin C Trait (AC) is a carrier of
the hemoglobin C gene, and is not
affected by the gene.
Hemoglobin
Electrophoresis
A laboratory technique to determine the
type of hemoglobin the individual has.
When you pass an electric charge through
a solution of hemoglobin, distinct
hemoglobins move different distances,
depending on their composition. This
technique differentiates between usual
hemoglobin (A), sickle hemoglobin (S)
and many other different kinds of
hemoglobin (such as C, D, E, etc.).
Inherit
To receive certain defined
characteristics from a parent by
transmission of the genes in the egg and
sperm.
Red Blood Cell
The cells in the circulation which
contains hemoglobin.
Sickle Cell Anemia (SS)
An inherited disorder of the red blood
cells in which the hemoglobin (the red
oxygen carrying pigment of the cell) is
different from the usual type. This
unusual hemoglobin results in the
production of unusually shaped cells,
which do not survive the usual length of
time in the blood circulation. Thus,
anemia results. Sickle cell anemia is
the result of the inheritance of the
gene for sickle hemoglobin (S) from both
parents.
Sickle Cell Disease
An inherited disorder of the red blood
cells in which one gene is for sickle
hemoglobin (S), and the other gene is
for another unusual hemoglobin such as
S, C, Thal. etc. The following are
examples of sickle cell disease: SS, SC,
SD, SßThal, etc.
Sickle Cell Trait (AS)
The inheritance of one gene for the
usual hemoglobin (A) and one gene for
sickle hemoglobin (S). A person who has
sickle cell trait (AS) is a carrier of
the sickle gene, does not have the
disease, does not have painful episodes,
and is generally not affected by the
sickle hemoglobin.
Thalassemia (Thal)
An inherited disorder of the gene in the
red blood cells which results in the
impaired ability to produce hemoglobin.
Unusual
Hemoglobins
In 1989,
there where 489 unusual hemoglobins
identified. The unusual hemoglobins most
commonly seen (frequency in population
greater than 1%) are hemoglobins: S
(sickle), C, ßThal, E, and D (Punjab) |
