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DISEASE PRESENTATION
SICKLE CELL ANAMIA
Is a genetic blood condition or disorder that occurs when a patient has abnormal
haemoglobin on their red blood cell called Haemoglobin S (normal haemoglobin type
is A) As a lifelong genetic condition inherited by both parents AS or sickle cell trait
their children.
Discovery information
The disease was first discovered in 1910 by an American physician James. B
Herrick. A young man named Walter Clement Noel from the island of Grenada, a
dental student studying in Chicago went to see Dr James Herrick with complaints of
pain episodes and symptoms of anaemia. The name sickle cell came from middle
age where the curved sword called Sickle was used in farm field for wheat harvest. It
is the origin of the word sickle.
Physiology or mechanism: Sickle cell disease is genetic condition that involves
defects in the shape and function of haemoglobin in the blood this increases the
likelihood of blockages in the blood vessels and disrupted blood flow, which can
result in serious complication. The genetic mutation that results in sickle
haemoglobin involves a substitution of thymine for adenine on sixth codon of genetic
sequence on haemoglobin beta chain. This genetic alteration changes the physical
properties of the haemoglobin cells changing their shape to the characteristics sickle
shape and the physical properties such as solubility and stability. It accounts for
changes in function and the common complications of disease.
Genetic inheritance pattern
This situation that follows an autosomal recessive pattern affect males and females
equally and both parents must carry a gene mutation even they are asymptomatic,
for the child to be affected. When both parents carry a single gene mutation known
as sickle cell trait, there is 25% chance that the disease will be develop,25% chance
that the child will be unaffected and 50% that they will posses a gene mutation as an
asymptomatic carrier.
Affected and concerned areas
African- American are most commonly affected with this disease. According to
research 1 in12 African or American carry the sickle cell trait. In addition, Middle
Easter, Asia, Caribbean, and East Mediterranean patients are at risk as well. Africa
is mainly affected particularly Western Africa.
The role of haemoglobin
Haemoglobin is an essential cellular component of red blood cells that play role of
transporting oxygen in the blood to the bodily tissues where it required. The red
blood cell called erythrocyte is a cell without nucleuslike a disc with enough room to
carry oxygen. Sickle cell haemoglobin differs in physical shape from the normal
haemoglobin with a curved sickle -shaped rather a flat shaped cell disc. The shape
alters the properties of cell, causing them to become mor rigid and less flexible. As a
result of this the cells are more likely to haemolyse and cause blockages in the blood
vessels that disrupt the flow of blood.
Pathology
When there is insufficient oxygen in the vascular system Haemoglobin S becomes
very sensitive to low oxygen level. When a red blood cell to change it’ s shape from
round, smooth shape to a stiff, sickle-shaped, and sticky shape banana or curved.
This abnormal haemoglobin becomes considerably more insoluble. This change of
shape in the red blood cell leads it to occlude circulation within the vessels, which
can lead to various types of sickle cell crises (vascular -occlusive, spleen
sequestration, destruction of red cell and aplastic crisis)
Symptoms
Many patients with sickle cell anaemia will have symptoms of anaemia but will not
manifest major signs and symptoms until a sickling cell episode occurs. Factors that
can cause sickle cell crisis include significant blood loos, illness climbing or flying to
high altitudes, stress, dehydration, fever, strenuous exercises or extreme cold
temperatures. Sickle cell crises vary among patients, some of them experiencing
random episodes with others experience them frequently. Sickle cell anaemia is
typically discovered in the young paediatric patient age 4- 6 months (because of
disappearance of fetal haemoglobin). Those patients will present with swelling of
hands and feet (hand-foot syndrome or Dactylitis), fever, infection, be extremely
fussy. Patients who have sickle cell anaemia are at risk for following complications:
acute chest syndrome, stroke, splenomegaly, infection, leg ulcers (mainly older
children), anaemia and vision changes, gallstones, and organs failure or damage.
Diagnostic is established by blood test which will show the increase and massive
presence of curved cell in the screening test also family ‘s history can show the link
and more genetic information about other members.
Treatment
Medication used to treat sickle cell anaemia is Hydroxyurea which helps make fetal
haemoglobin. It decreases sickling episodes and the need of blood transfusion, pain
relieving medication and folic acid, increase blood circulation. However, low white
blood cell count as side effect of Hydroxyurea. Bone marrow transplant as well but
very risky operation. More preventives with health care service to prevent crises and
infection by educating parents and patients about all risk specially infection and
anaemia, moreover people should get advice from qualified healthcare worker or
blood test before having children or avoid marriage if you are aware about the sickle
cell family. Prevent is better than cure, there is no cure for it scientist still working on
it as a genetic disorder it may take more time to found the solution for it.
BIBLIOGRAGHY
http:www.sicklecellanemia quiz.com registernurse.com
http:www.nhs.uk> sicklecelldisease.com
http: www.medlineplus.gov.condition>sickle
http:wwwcdc.gov>sicklecell>traits.com
http:www.en.mwikepedia.org>wiki>sicklecell
http:www.healthline.com.health>sickle
http:ww.sicklecell.howard.edu>Abrief
.

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Marie nzala sickle cell disease

  • 1. DISEASE PRESENTATION SICKLE CELL ANAMIA Is a genetic blood condition or disorder that occurs when a patient has abnormal haemoglobin on their red blood cell called Haemoglobin S (normal haemoglobin type is A) As a lifelong genetic condition inherited by both parents AS or sickle cell trait their children. Discovery information The disease was first discovered in 1910 by an American physician James. B Herrick. A young man named Walter Clement Noel from the island of Grenada, a dental student studying in Chicago went to see Dr James Herrick with complaints of pain episodes and symptoms of anaemia. The name sickle cell came from middle age where the curved sword called Sickle was used in farm field for wheat harvest. It is the origin of the word sickle. Physiology or mechanism: Sickle cell disease is genetic condition that involves defects in the shape and function of haemoglobin in the blood this increases the likelihood of blockages in the blood vessels and disrupted blood flow, which can result in serious complication. The genetic mutation that results in sickle haemoglobin involves a substitution of thymine for adenine on sixth codon of genetic sequence on haemoglobin beta chain. This genetic alteration changes the physical properties of the haemoglobin cells changing their shape to the characteristics sickle shape and the physical properties such as solubility and stability. It accounts for changes in function and the common complications of disease. Genetic inheritance pattern This situation that follows an autosomal recessive pattern affect males and females equally and both parents must carry a gene mutation even they are asymptomatic, for the child to be affected. When both parents carry a single gene mutation known as sickle cell trait, there is 25% chance that the disease will be develop,25% chance that the child will be unaffected and 50% that they will posses a gene mutation as an asymptomatic carrier. Affected and concerned areas African- American are most commonly affected with this disease. According to research 1 in12 African or American carry the sickle cell trait. In addition, Middle Easter, Asia, Caribbean, and East Mediterranean patients are at risk as well. Africa is mainly affected particularly Western Africa. The role of haemoglobin Haemoglobin is an essential cellular component of red blood cells that play role of transporting oxygen in the blood to the bodily tissues where it required. The red blood cell called erythrocyte is a cell without nucleuslike a disc with enough room to carry oxygen. Sickle cell haemoglobin differs in physical shape from the normal haemoglobin with a curved sickle -shaped rather a flat shaped cell disc. The shape alters the properties of cell, causing them to become mor rigid and less flexible. As a
  • 2. result of this the cells are more likely to haemolyse and cause blockages in the blood vessels that disrupt the flow of blood. Pathology When there is insufficient oxygen in the vascular system Haemoglobin S becomes very sensitive to low oxygen level. When a red blood cell to change it’ s shape from round, smooth shape to a stiff, sickle-shaped, and sticky shape banana or curved. This abnormal haemoglobin becomes considerably more insoluble. This change of shape in the red blood cell leads it to occlude circulation within the vessels, which can lead to various types of sickle cell crises (vascular -occlusive, spleen sequestration, destruction of red cell and aplastic crisis) Symptoms Many patients with sickle cell anaemia will have symptoms of anaemia but will not manifest major signs and symptoms until a sickling cell episode occurs. Factors that can cause sickle cell crisis include significant blood loos, illness climbing or flying to high altitudes, stress, dehydration, fever, strenuous exercises or extreme cold temperatures. Sickle cell crises vary among patients, some of them experiencing random episodes with others experience them frequently. Sickle cell anaemia is typically discovered in the young paediatric patient age 4- 6 months (because of disappearance of fetal haemoglobin). Those patients will present with swelling of hands and feet (hand-foot syndrome or Dactylitis), fever, infection, be extremely fussy. Patients who have sickle cell anaemia are at risk for following complications: acute chest syndrome, stroke, splenomegaly, infection, leg ulcers (mainly older children), anaemia and vision changes, gallstones, and organs failure or damage. Diagnostic is established by blood test which will show the increase and massive presence of curved cell in the screening test also family ‘s history can show the link and more genetic information about other members. Treatment Medication used to treat sickle cell anaemia is Hydroxyurea which helps make fetal haemoglobin. It decreases sickling episodes and the need of blood transfusion, pain relieving medication and folic acid, increase blood circulation. However, low white blood cell count as side effect of Hydroxyurea. Bone marrow transplant as well but very risky operation. More preventives with health care service to prevent crises and infection by educating parents and patients about all risk specially infection and anaemia, moreover people should get advice from qualified healthcare worker or blood test before having children or avoid marriage if you are aware about the sickle cell family. Prevent is better than cure, there is no cure for it scientist still working on it as a genetic disorder it may take more time to found the solution for it. BIBLIOGRAGHY http:www.sicklecellanemia quiz.com registernurse.com http:www.nhs.uk> sicklecelldisease.com