Sickle cell disease is a
congenital haemolytic anaemia that occurs primarily but not exclusively in
blacks. Sickle cell anaemia results from a defective haemoglobin (HB) molecule
(haemoglobins) that causes red blood cells (RBCs) to roughen and become
sickle-shaped. Such cells impair circulation resulting in chronic ill health
(fatigue, dyspnoea on exertion, swollen joints), periodic crises, long term complications
and premature death.
congenital haemolytic anaemia that occurs primarily but not exclusively in
blacks. Sickle cell anaemia results from a defective haemoglobin (HB) molecule
(haemoglobins) that causes red blood cells (RBCs) to roughen and become
sickle-shaped. Such cells impair circulation resulting in chronic ill health
(fatigue, dyspnoea on exertion, swollen joints), periodic crises, long term complications
and premature death.
Sickle cell disease or
drepanocytosis is an autosomal recessive genetic blood disorder with
over-dominance, characterized by red blood cells that assume an abnormal, rigid
sickle shape. Sickling decreases the cells flexibility and result in a risk of
various complications. The sickling occurs because of a mutation in the haemoglobin
gene. Life expectancy is shortened with studies reporting an average life
expectancy of 42 in male and 48 in females. Sickle cell disease, usually
presenting in childhood, occurs more commonly in people (or their descendants)
from part of tropical regions where malaria is or was common. One-third of all
indigenous inhabitants of sub-sahara Africa carry the gene, because in areas
where malaria is common, there is a fitness benefit in carrying only a single
sickle cell-gene (sickle cell trait).
drepanocytosis is an autosomal recessive genetic blood disorder with
over-dominance, characterized by red blood cells that assume an abnormal, rigid
sickle shape. Sickling decreases the cells flexibility and result in a risk of
various complications. The sickling occurs because of a mutation in the haemoglobin
gene. Life expectancy is shortened with studies reporting an average life
expectancy of 42 in male and 48 in females. Sickle cell disease, usually
presenting in childhood, occurs more commonly in people (or their descendants)
from part of tropical regions where malaria is or was common. One-third of all
indigenous inhabitants of sub-sahara Africa carry the gene, because in areas
where malaria is common, there is a fitness benefit in carrying only a single
sickle cell-gene (sickle cell trait).
Sickle cell anaemia is the
name of a specific form of sickle cell disease in which there is homozygosity
for the mutation that cause HBS. Sickle cell anaemia is also referred to as
“Hbss”, “SS disease”, “haemoglobin S” or permutations’ and thereof. In
heterozygous people who have only one sickle gene and one normal adult
haemoglobin gene, it is referred to as “HbAs” or sickle cell trait. Other rare
forms of sickle cell disease include sickle haemoglobin C disease (Hbsc).
Sickle cell disease are compound heterozygous states in which the person has
only one copy of the mutation that causes Hbs and one copy of another abnormal
haemoglobin allele.
name of a specific form of sickle cell disease in which there is homozygosity
for the mutation that cause HBS. Sickle cell anaemia is also referred to as
“Hbss”, “SS disease”, “haemoglobin S” or permutations’ and thereof. In
heterozygous people who have only one sickle gene and one normal adult
haemoglobin gene, it is referred to as “HbAs” or sickle cell trait. Other rare
forms of sickle cell disease include sickle haemoglobin C disease (Hbsc).
Sickle cell disease are compound heterozygous states in which the person has
only one copy of the mutation that causes Hbs and one copy of another abnormal
haemoglobin allele.
The disease or disorder
occurs when an individual inherits the abnormal haemoglobin S. from both
parents and the symptoms usually appear after early infancy and typically
persist throughout life span, there are many symptom of sickle cell disease,
all of them are related to the defective haemoglobin and its effect on red
blood cells. Some persons with the condition suffered from only a few symptoms,
while others are severely affected and have a short life span. Better
understanding and management of the disease in recent decades, has improved the
prognosis for patient with it.
occurs when an individual inherits the abnormal haemoglobin S. from both
parents and the symptoms usually appear after early infancy and typically
persist throughout life span, there are many symptom of sickle cell disease,
all of them are related to the defective haemoglobin and its effect on red
blood cells. Some persons with the condition suffered from only a few symptoms,
while others are severely affected and have a short life span. Better
understanding and management of the disease in recent decades, has improved the
prognosis for patient with it.
The major symptoms are
anaemia, periodic joint and limb pain, bone changes, often can be seen on x-ray
and are due to bone infections. There is also tendency towards progressive renal
disease and renal failure (Miller, 2009).
anaemia, periodic joint and limb pain, bone changes, often can be seen on x-ray
and are due to bone infections. There is also tendency towards progressive renal
disease and renal failure (Miller, 2009).
Having sickle cell disease
means a lifelong battle against the health problems it can cause, such as pain,
infections, anaemia and stroke. But many people are able to have a very good
quality of life by learning to manage the disease. When a child inherits the
gene from just one parent, that child has sickle cell trait.
means a lifelong battle against the health problems it can cause, such as pain,
infections, anaemia and stroke. But many people are able to have a very good
quality of life by learning to manage the disease. When a child inherits the
gene from just one parent, that child has sickle cell trait.
