Thalassemia.ppt

THALASSEMIA
SAMEER JAIN
ASSISTANT PROFESSOR
JOTIBA COLLEGE OF NURSING

Introduction
 Thalassemia is inherited blood disorders. "Inherited"
means that parents pass the genes for the disorder on
to their children.
 Thalassemia is a blood disorder passed down through
families (inherited) in which the body makes an
abnormal form of hemoglobin, [the protein in red
blood cells that carries oxygen].
 The disorder results in excessive destruction of red
blood cells, which leads to anemia.

Cont……
 Thalassemias cause the body to make fewer healthy red blood
cells and less haemoglobin than normal.
 Hemoglobin is an iron-rich protein in red blood cells. It carries
oxygen to all parts of the body.
 Hemoglobin also carries carbon dioxide from the body to the
lungs, where it's exhaled.

Cont…
 Thalassemias affect both males and females. The
disorders occur most often among people of Italian,
Greek, Middle Eastern, Asian, and African descent.
 Severe forms usually are diagnosed in early childhood
and are lifelong conditions.
 The most severe form of alpha thalassemia is called
alpha thalassemia major or hydrops fetalis. Babies
who have this disorder usually die before or shortly
after birth.

causes
 Hemoglobin has two kinds of protein chains: alpha globin and
beta globin.
 If your body doesn't make enough of these protein chains or
they're abnormal, red blood cells won't form correctly or carry
enough oxygen. Your body won't work well if your red blood
cells don't make enough healthy hemoglobin.
 Genes control how the body makes hemoglobin protein chains.
When these genes are missing or altered, Thalassemias occur.
 People who have moderate to severe forms of thalassemia have
inherited faulty genes from both parents.

classification
Alpha Thalassemias
You need four genes (two from each parent) to
make enough alpha globin protein chains.
If one or more of the genes is missing, you'll have
alpha thalassemia trait or disease.
This means that your body doesn't make enough
alpha globin protein.

Cont…
 If you're only missing one gene, you're a "silent"
carrier. This means you won't have any signs of
illness.
 If you're missing two genes, you have alpha
thalassemia trait (also called alpha thalassemia minor).
You may have mild anemia.
 If you're missing three genes, you likely will have
hemoglobin H disease (which a blood test can detect).
This form of thalassemia causes moderate to severe
anemia.

Beta Thalassemias
 You need two genes (one from each parent) to make
enough beta globin protein chains.
 If one or both of these genes are altered, you'll have
beta thalassemia.
 This means that your body doesn't make enough beta
globin protein.

Cont…
 If you have one altered gene, you're a carrier. This
condition is called beta thalassemia trait or beta
thalassemia minor. It causes mild anemia.
 If both genes are altered, you'll have beta thalassemia
intermedia or beta thalassemia major (also called
Cooley's anemia). The intermedia form of the disorder
causes moderate anemia. The major form causes
severe anemia.

Other forms of thalassemia
 Hb E – beta thalassemia. Hb E is one of the most
common hemoglobin variants, found predominantly in
people of Southeast Asian descent.
 If a person inherits one Hb E gene and one beta
thalassemia gene, the combination produces Hb E-beta
thalassemia, which causes a moderately severe anemia
similar to beta thalassemia intermedia.

Risk factor
Family History
Ancestry
 Alpha thalassemia (Southeast Asian, Indian,
Chinese.)
 Beta thalassemias most often affect people of
Mediterranean (Greek, Italian, and Middle
Eastern), Asian, or African origin or ancestry.

Clinical Manifestation
No Symptoms
• Alpha thalassemia silent carriers generally have no signs or
symptoms..
• This is because the lack of alpha globin protein is so minor that
the body's hemoglobin works normally

Mild to Moderate Anemia
 Slowed growth and delayed puberty.
 Bone problems. Thalassemia may cause bone marrow to
expand, When bone marrow expands, the bones become wider
than normal. They may become brittle and break easily.
 Splenomegaly

Severe Anemia
 A pale and listless appearance
 Poor appetite
 Dark urine (a sign that red blood cells are breaking
down)
 Slowed growth and delayed puberty
 Jaundice
 An enlarged spleen, liver, and heart
 Bone problems

Diagnosis
 Complete blood count (CBC)
 Peripheral blood smear examination(low MCV)
 red blood cells are-
 microcytic
 Be hypochromic
 Vary in size (anisocytosis) and shape (poikilocytosis)
 Be nucleated - normal, mature RBCs do not have a nucleus
 uneven hemoglobin distribution
 Test for amount of iron to confirmation of iron deficiency
anemia

Cont..
 diagnosed in early childhood. This is because signs and
symptoms, including severe anemia, occur within the first 2
years of life.
Family history
 Family genetic studies
 Blood examination of family members
 Prenatal testing involves taking a sample of amniotic fluid

Treatment
 depend on the type and severity of the disorder
 Mild cases no need of treatment
 three standard treatments for moderate and severe
forms of thalassemia.
 Blood transfusions,
 Iron Chelation Therapy, and
 folic acid supplements

 Blood Transfusions
 Red blood cells live only for about 120 days. So, you
may need repeated transfusions to maintain a supply
of healthy red blood cells.
 Blood transfusions allow you to feel better, enjoy
normal activities, and live into adulthood. This
treatment is lifesaving, but it's expensive and carries a
risk of transmitting infections and viruses (for
example, hepatitis).

 Iron Chelation Therapy
 Because the hemoglobin in red blood cells is an iron-rich
protein, regular blood transfusions can lead to a buildup of iron in
the blood. This condition is called iron overload. It damages the
liver, heart, and other parts of the body.
 To prevent this damage, iron chelation therapy is needed to
remove excess iron from the body. Two medicines are used for
iron chelation therapy.
• Deferoxamine
• Deferasirox

 Bone Marrow StemCell Transplant

Nursing Assessment
 Obtain family history of thalassemia or unexplained
anemia or heart failure.
 Perform whole body examination to assess for anemia
and systemic complications of thalassemia.
 Measure growth and development parameters.

 Nursing Diagnoses
 Ineffective Tissue Perfusion related to abnormal Hb
 Chronic Pain related to progression of disease in bone
 Activity Intolerance related to bone pain, cardiac dysfunction, and anemia
 Risk for Infection related to progressive anemia and splenectomy
 Deficient Knowledge related to iron chelation therapy
 Disturbed Body Image related to endocrine and skeletal abnormalities
 Ineffective Family Coping related to poor prognosis

‘Time’ is the best kept
secret of the rich &
successful..!
– Jim Rohn

Learn from the
mistakes of others.
You can't live long
enough to make them
all yourself…!

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