Project on Thalassemia Anemia

Thalassemia Anemia is a genetic disorder that affects the production of hemoglobin, leading to anemia and various symptoms such as fatigue, loss of appetite, heart problems, jaundice, and dark urine. The pathophysiology involves overproduction of HbF and HbA2, haemolysis, and ineffective erythropoiesis. Diagnosis is done through blood tests, including haemoglobin electrophoresis. Prognosis varies depending on the type of thalassemia, with some cases requiring regular blood transfusions, bone marrow transplants, or genetic treatments. Treatment options include supplements for mild anemia and blood transfusions for severe cases.

P R O J E C T O N T H A L A S S E M I A
A N E M I A
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TABLE OF CONTENTS
Introduction..........................................................................................................................3
Discussion............................................................................................................................3
Signs and Symptoms........................................................................................................3
Pathophysiology..............................................................................................................3
Diagnosis.........................................................................................................................4
Prognosis..........................................................................................................................5
Treatment.........................................................................................................................5
Summary..............................................................................................................................5
References............................................................................................................................7
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INTRODUCTION
The assignment looks into the different symptoms, pathopsychology, diagnosis,
prognosis and treatments of Thalassemia Anemia. The assignment tries to fulfil all of the
diagnosis and treatment terms that are associated with the Thalassemia Anemia.
DISCUSSION
The part below looks into the different matters related to detection of the thalassemia, its
symptoms, the prognosis as well as the treatment options available for the patients.
SIGNS AND SYMPTOMS
There are multiple signs and symptoms of thalassemia Anemia, and it depends on the
type of Thalassemia that is causing the anemia. The most common signs of thalassemia
anemia is fatigue, loss of appetite, loss of energy, heart problems, jaundice, easily being
infected, dark urine as well as delayed puberty (Nienhuis, 2012). The persons might feel
fatigued and lose energy. Their skin might become pale and yellowish. Jaundice is also a
sign of thalassemia.
PATHOPHYSIOLOGY
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FIGURE 1 : PATHOPSYCHOLOGY
The Thalassemia Anemia is caused by a lot of factors, like the overproduction of HbF,
the overproduction of Hb A2 in blood as well as because of haemolysis and ineffective
erythropoiesis. The folate deficiency can also cause Anemia (Jones, 2015).
DIAGNOSIS
The diagnosis of thalassemia is done through blood test. The lab professional looks into
the blood sample to see if there are any RBC that is deformed or lacking in numbers.
There is also a number of tests that are done to detect thalassemia anemia, a haemoglobin
electrophoresis is done for detecting the abnormal type of RBC. Also physician
examination is done in some cases (Schrier, 2005).
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PROGNOSIS
Thalassemia often causes an Iron increase in blood stream as well as makes it easier for
the affected people to be susceptible to infections. They also might have slow growth
rates, fatigueless feelings, and blood as well as heart problems. While for some, with mild
anemia, the same cannot be directly diagnosed or pointed out (Gardenghi, 2007). But for
people with Anemia Major it is most common that they will need all the medical
attention to lead a healthy life.
TREATMENT
The treatment of Thalassemia Anemia is different for the severity of the thalassemia
symptoms. For most people, who are affected with Thalassemia Minor, they can benefit
from supplements when required! For Thalassemia Major affected patients, it becomes
tough to lead a healthy life. Since the feeling of fatigue, the lack of energy, dark urine,
jaundice and lack of healthy red blood cells are common (Cao, 2010). These people will
need to have regular blood transfusion, which will help them get healthy red blood cells
and reduce the effects. Some can be benefitted from bone marrow transplants as well as
from genetic treatments. Stem cell treatments are also available.
SUMMARY
Our understandings of the disease, its symptoms and prognosis and cure makes it easier
for us to understand the treatment options for patients. The creation of anemia situation is
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often caused by malnutrition and lack of iron in blood but it is needed to be understood
clearly that there is sometimes methods to reduce the affects and symptoms but is varies
with the type of thalassemia anemia one has as well as the symptoms that are created.
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REFERENCES
Cao, A. (2010). Beta-thalassemia. Genetics in Medicine, 61-76.
Gardenghi, S. (2007). Ineffective erythropoiesis in beta-thalassemia is characterized by
increased iron absorption mediated by down-regulation of hepcidin and up-
regulation of ferroportin. Blood , 5027-5035.
Jones, E. (2015). Hepcidin is suppressed by erythropoiesis in hemoglobin E β-
thalassemia and β-thalassemia trait. Blood, 873-880.
Nienhuis, A. W. (2012). Pathophysiology and Clinical Manifestations of the β-
Thalassemias. Cold Spring Harb Perspect Med, 1/1.
Schrier, S. (2005). New strategies in the treatment of the thalassemias. Annu Rev Med,
157-171.
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