“Thalassemia Awareness”

Submitted to: Ms. Aida Medina

Submitted by: CASTAÑEDA, Desiree Nicole C.
ESMA, Reymart Nikko B.
GALLARDO, Trisha Mae
I. INTRODUCTION

Thalassemias are a group of hereditary diseases of abnormal hemoglobin synthesis

where the normal hemoglobin protein is produced in lower amounts than usual. These
conditions cause varying degrees of anemia, which can range from insignificant to life
threatening. Thalassemia can be classified according to the deficient globin chain, alpha
or beta thalassemia. Patients with severe anemia who receive regular blood transfusions
become iron overloaded, which increases damaging free radical activity and lowers
antioxidant levels in their bodies. Several investigators have provided evidence
supporting the hypothesis that oxidative stress plays an important role in development of
clinical complications in thalassemia. Increasing antioxidant activity is then expected to
bring oxidative stress down to minimal levels. Therefore, it is important to understand
the mechanisms of free radical-induced oxidative stress damage in thalassemia before
using it as a potential tool in diagnosis and treatment of the disease.

TYPES:
Four alpha-globin and two beta-globin protein chains make up hemoglobin. The two
main types of thalassemia are alpha and beta.

Alpha thalassemia

In alpha thalassemia, the hemoglobin does not produce enough alpha protein.
To make alpha-globin protein chains we need four genes, two on each chromosome 16.
We get two from each parent. If one or more of these genes is missing, alpha thalassemia
will result.

The severity of thalassemia depends on how many genes are faulty, or mutated.

One faulty gene: The patient has no symptoms. A healthy person who has a child
with symptoms of thalassemia is a carrier. This type is known as alpha thalassemia
minima.

Two faulty genes: The patient has mild anemia. It is known as alpha thalassemia
minor.
 Three faulty genes: The patient has hemoglobin H disease, a type of chronic anemia.
They will need regular blood transfusions throughout their life.

Four faulty genes: Alpha thalassemia major is the most severe form of alpha
thalassemia. It is known to cause hydrops fetalis, a serious condition in which fluid
accumulates in parts of the fetus' body.

A fetus with four mutated genes cannot produce normal hemoglobin and is unlikely
to survive, even with blood transfusions.

Beta Thalassemia

We need two globin genes to make beta-globin chains, one from each parent. If
one or both genes are faulty, beta thalassemia will occur.

Severity depends on how many genes are mutated.

One faulty gene: This is called beta thalassemia minor.

Two faulty genes: There may be moderate or severe symptoms. This is known as
thalassemia major. It used to be called Colley's anemia.
II. HISTORY
III. CAUSES

The protein hemoglobin transports oxygen around the body in blood cells. Bone marrow
uses the iron we get from food to make hemoglobin.

In people with thalassemia, the bone marrow does not produce enough healthy
hemoglobin or red blood cells. In some types this leads to a lack of oxygen, resulting in
anemia and fatigue.

People with mild thalassemia may not require any treatment, but more severe forms will
necessitate regular blood transfusions.
IV. DIAGNOSTIC EXAM

Most children with moderate to severe thalassemia receive a diagnosis by the time
they are 2 years old.

A complete blood count (CBC): This can check levels of hemoglobin and the level and
size of red blood cells.

A reticulocyte count: This measures how fast red blood cells, or reticulocytes, are
produced and released by the bone marrow. Reticulocytes usually spend around 2 days in the
bloodstream before developing into mature red blood cells. Between 1 and 2 percent of a
healthy person's red blood cells are reticulocytes.

Iron: This will help the doctor determine the cause of anemia, whether thalassemia or
iron deficiency. In thalassemia, iron deficiency is not the cause.

Genetic testing: DNA analysis will show whether a person has thalassemia or faulty
genes.

Prenatal testing: This can show whether a fetus has thalassemia, and how severe it might
be.

Chorionic villus sampling (CVS): a piece of placenta is removed for testing, usually
around the 11th week of pregnancy.
Amniocentesis: a small sample of amniotic fluid is taken for testing, usually during the
16th week of pregnancy. Amniotic fluid is the fluid that surrounds the fetus.
V. SIGNS AND SYMPTOMS

The symptoms of thalassemia vary depending on the type of thalassemia.

Symptoms will not show until the age of 6 months in most infants with beta thalassemia
and some types of alpha thalassemia. This is because neonates have a different type of
hemoglobin, called fetal hemoglobin.

After 6 months "normal" hemoglobin starts replacing the fetal type, and symptoms may
begin to appear.

These include:

 jaundice and pale skin

 drowsiness and fatigue
 chest pain
 cold hands and feet
 shortness of breath
 leg cramps
 rapid heart beat
 poor feeding
 delayed growth
 headaches
 dizziness and faintness
 greater susceptibility to infections
VI. MEDICAL SURGICAL AND NURSING MANAGEMENT

Treatment depends on the type and severity of thalassemia.

Blood transfusions: These can replenish hemoglobin and red blood cell levels. Patients
with thalassemia major will need between eight and twelve transfusions a year. Those with
less severe thalassemia will need up to eight transfusions each year, or more in times of
stress, illness, or infection.

Iron chelation: This involves removing excess iron from the bloodstream. Sometimes
blood transfusions can cause iron overload. This can damage the heart and other organs.
Patients may be prescribed deferoxamine, a medication that is injected under the skin, or
deferasirox, taken by mouth.

Patients who receive blood transfusions and chelation may also need folic acid
supplements. These help the red blood cells develop.

Bone marrow, or stem cell, transplant: Bone marrow cells produce red and white blood
cells, hemoglobin, and platelets. A transplant from a compatible donor may be an effective
treatment, in severe cases.

Oxygen-regulated gene therapy: Many concepts of gene therapy have been proposed.
Gene therapy may involve inserting a normal beta or alpha globin gene into the patient's
stem cells. The new alpha or beta globin genes should be designed to insert with appropriate
copy number into the hematopoietic stem cells, but they should be expressed in normal
amounts only in erythroid precursors and not in any of the other nine stem-cell-derived blood
cell lines
VII. NURSING INTERVENTION
VIII. COMPLICATIONS

Iron overload: This may be due to the frequent blood transfusions or the disease itself.
Iron overload raises the risk of hepatitis, (swollen liver), fibrosis (scarring in the liver),
and cirrhosis, or progressive liver damage due to scarring.

The endocrine glands produce hormones. The pituitary gland is particularly sensitive to
iron overload. Damage may lead to delayed puberty and restricted growth. Later, there may
be a higher risk of developing diabetes and either an underactive or overactive thyroid gland.

Iron overload also increases the risk of arrhythmias, or abnormal heart rhythms, and
congestive heart failure.

Alloimmunization: Sometimes, a blood transfusion will trigger a reaction where the

person's immune system reacts to the new blood and tries to destroy it. It is important to have
the exact blood type match to prevent this kind of problem.

Enlarged spleen: The spleen recycles red blood cells. In thalassemia, the red blood cells
may have an abnormal shape, making it harder for the spleen to recycle them. The cells
accumulate in the spleen, making it grow.

An enlarged spleen can become overactive. It can start to destroy the healthy blood cells
the patient receives during transfusions. Sometimes, a patient may need a splenectomy, or
surgical removal of the spleen. This is now less common, because removing the spleen can
lead to other complications.

Infection: Removing the spleen leads to a higher chance of infection, and regular
transfusions increase the risk of contracting a blood-borne disease.

Bone deformities: In some cases, the bone marrow expands, deforming the bone around
it, especially the bones of the skull and face. The bone can become brittle, increasing the risk
of fracture
Resources:
https://www.healthcare.uiowa.edu/corefacilities/esr/education/2005/5/JetawattanaS-Paper
-5-Thalassemia-revised.pdf

https://www.medicalnewstoday.com/articles/263489.php