Thalassemia

Introduction
• The word “thalassemia” is derived from the Greek words
“Thalassa” means the great sea. The disease was first
described by cooley in 1952.
• Thalassemia is a group of disease of hereditary hemolytic
anemia characterized by reduction in the synthesis of
hemoglobin.
• It produces hypochromic microcytic anemia due to defective
hemoglobiniziation of RBCs, hemolysis and ineffective
erythropoiesis.
 Definition
• Thalassemia is a group of
genetic blood diseases that
vary widely in severity
involving decreased and
defective production of
hemoglobin
 Causes
• Genetic factor
 Risk factors
• Family history of
• Certain ancestry.
thalassemia.
Thalassemia occurs
Thalassemia is passed from
parents to children through most often in people of

mutated hemoglobin genes. Italian, Greek, Middle

If you have a family history Eastern, Asian and
of thalassemia, you may African ancestry.
have an increased risk of
the condition.
 Types
• Alpha-thalassemia • Beta-thalassemia
– Alpha thalassemia – Beta thalassemia
happens when the
happens when one
gene that controls the
or more of the genes
production of beta
that control the globin is defective.
making of alpha Beta thalassemia can
globins is absent or cause anemia ranging
defective. from mild to severe
 Alpha thalassemia- Type
• One missing or abnormal gene makes a child a silent alpha thalassemia
carrier. Silent alpha thalassemia carriers have no signs or symptoms of
the disease, but are able to pass thalassemia on to their children.
• Two missing or mutated genes is a condition called alpha thalassemia
minor or having alpha thalassemia trait. Children with this condition
may have red blood cells that are smaller than normal (microcytosis) and
sometimes very slight anemia.
• Three missing or mutated genes is called hemoglobin H disease. Signs
and symptoms will be moderate to severe.
• Four missing or mutated genes is a condition known as alpha
thalassemia major ((also called Hb Bart syndrome) or hydrops fetalis.
This almost always leads to a fetus dying before delivery or a newborn
baby dying shortly after birth. However if this disease is suspected
because of a history in the family, it can be diagnosed prenatally.
Sometimes, if treatment is initiated before the baby is even born, the
baby can survive.
microcytosis
• Microcytosis is a condition
in which red blood cells are
unusually small as
measured by their mean
corpuscular volume.
• It is also known as
"microcythemia".When
associated with anemia, it is
known as microcytic
anemia.
 Beta thalassemia- Type
• Beta thalassemia major (Cooley's anemia). This is the most
severe type of beta thalassemia. It is often found during the first 2
years of life. Children often need frequent blood transfusions. This
can cause serious problems with iron overload are common.
• Beta thalassemia intermedia. may also happen when both of the
beta globin genes are mutated, but the mutations are less severe
than those that typically cause beta thalassemia major. People with
this condition usually have moderately severe anemia and
sometimes require regular blood transfusions.
• Thalassemia minor or thalassemia trait. happens when one of
the beta globin genes is mutated. People with this condition
typically have very mild symptoms and require no treatment, but
they can pass thalassemia on to their children. Usually, they are
mildly anemic and their red blood cells are smaller than normal
 Signs and symptoms
• Children with thalassemia major may show signs
and symptoms in early infancy. The symptoms are
similar to children with anemia:
• pale skin

• fatigue

• weakness

• shortness of breath
 Cont…signs & symptoms

• Other symptoms may include:

– Irritability
– yellow discoloration of skin (jaundice)
– slow growth
– protruding abdomen
– facial bone deformities
– dark urine
– enlarged abdomen Metabolic symptoms that suggest diabetes,
thyroid disorder, or other endocrinopathy
– Severe bony changes due to ineffective erythroid production
– Hypermetabolism from ineffective erythropoiesis
 Thalassemia Major
• Hemolysis
• anemia
 Diagnostic test
Laboratory studies
• CBC count
• Hemoglobin electrophoresis
• Peripheral blood smear
• Iron studies (ie, levels of
serum iron, serum ferritin)
• Complete RBC phenotype
• Hepatitis screen
• Folic acid level
• level of urinary excretion of
iron after deferoxamine
challenge
• Renal function tests
• Bone marrow study
• Hematocrit value are
reduced-
– MCV, MCH
– MCHC
 Cont…Diagnostic test

• Imaging studies
• Procedures
– Skeletal survey:
– Bone marrow
– Chest radiography:
examination:
– MRI or CT scanning
– Liver biopsy
– ECG,

– echocardiography
 Antenatal investigation
• chorionic vilius sampling, which takes place about
11 weeks into pregnancy and involves removing a
tiny piece of the placenta for testing
• amniocentesis, which is usually done about 16
weeks into the pregnancy and involves removing a
sample of the fluid that surrounds the fetus
 Management
• Treatments for thalassemias depend on the type
and severity of the disorder.

• People who are carriers or who have alpha or beta

thalassemia trait have mild or no symptoms.

• They’ll likely need little or no treatment.

Alpha thalassemia treated in a child
• Treatment depends on the type of alpha thalassemia.
• There is no effective treatment for alpha thalassemia major.
• Most children with alpha thalassemia trait don’t need
treatment.
• Most children with hemoglobin H disease don’t need
treatment, but treatment may include:
– A referral to a hematologist, an expert in blood disorders
– Daily doses of folic acid, a vitamin vital to hemoglobin
production
– Blood transfusions may be needed if hemoglobin levels drop
suddenly
– Surgical removal of the spleen (rarely done)
 Standard Treatments
• Repeated Blood Transfusions
• Iron Chelation Therapy
• Folic Acid Supplements
• Supportive Measure

• Surgical Treatments
– Blood and Marrow Stem Cell Transplant
– splenectomy
 Iron chelation therapy
• Iron chelation therapy is the removal of excess iron from the body with
special drugs. Chelate is from the Greek word "claw".
• Iron overload is the major cause of morbidity for thalassemia patients.
Even nontransfused patients develop iron overload secondary to
increased intestinal absorption of dietary iron. Iron overload is a leading
cause of mortality and organ injury.
• There are three drugs used for iron overload but in four regimes:
– Desferrioxamine (Desferal)
– Deferiprone (Ferriprox)
– Deferiprone and Desferrioxamine in combination
– Deferasirox (Exjade)
• It is useful to think about the toxicity of iron according to the following
relation:
• Toxicity = [tissue iron] x [patient- and tissue-specific factors] x [time]
 Half-life of drug Side effects and
Agent Route Schedule Clearance
(hours) toxicity

Slow infusion:
Deferoxamine Dermatological,
intravenous or 0.5 Eight to 24 hours Renal, hepatic
(Desferal) ocular, auditory
subcutaneous

Deferasirox Gastrointestinal,
Oral 12 to 16 Once daily Hepatobiliary
(Exjade) renal, hepatic

Hematological
Three times per (neutropenia,
Deferiprone (L1) Oral 2 to 3 Renal, cardiac
day agranulocytosis),
arthropathic
 Pharmacotherapy
• Antipyretics, analgesics (eg, acetaminophen)
• Antihistamines (eg, diphenhydramine)
• Chelating agents (eg, deferoxamine, deferasirox)
• Corticosteroids (eg, hydrocortisone)
• Antibacterial combinations (eg, gentamicin,
penicillin V)
• Vitamins (eg, ascorbic acid, alpha-tocopherol, folic
acid)
• Vaccines
• Growth hormone (eg, somatropin)
 Nursing Management
• Nursing assessment of a child with thalassemia
include:
– Thalassemia major. Assess for severe anemia,
splenomegaly or hepatomegaly with abdominal
enlargement, frequent infections, bleeding
tendencies e.g. epistaxis, and anorexia.
– Thalassemia intermediate. Assess for anemia,
jaundice, and splenomegaly, hemosiderosis caused
by increased intestinal absorption of iron.
– Thalassemia minor. Assess for mild anemia usually
with no signs or symptoms.
 Nursing Diagnoses
• Ineffective tissue perfusion related to reduced
cellular components that are essential to deliver
pure oxygen to the cells.
• Activity intolerance related to imbalance of
oxygen supply and consumption needs.
• Imbalanced nutrition: less than body
requirements related to lack of appetite.
• Ineffective family coping related to impact of the
disease to family functioning.
 Nursing Care Planning and Goals
• Client will verbalize use of energy conservation principles.
• Client will verbalize reduction of fatigue, as evidenced by reports
of increased energy and ability to perform desired activities.
• Client will verbalize understanding of own disease and treatment
plan.
• Client will have a reduced risk of infection as evidenced by an
absence of fever, normal white blood cell count, and
implementation of preventive measures such as proper hand
washing.
• Client will have vital signs within the normal limit.
• Client will have a reduced risk for bleeding, as evidenced by
normal or adequate platelet levels and absence of bruises and
petechiae.
 Nursing Interventions
• Activity. Assist the client in planning and prioritizing
activities of daily living (ADL); assist the client in
developing a schedule for daily activity and rest; and
stress the importance of frequent rest periods.
• Health education. Explain the importance of the
diagnostic procedures (such as complete blood
count), bone marrow aspiration and a possible
referral to a hematologist; and explain the
hematological vocabulary and the functions of blood
elements, such as white blood cells, red blood cells,
and platelets.
 Cont…Nursing Interventions
• Prevent infection. Assess for local or systemic signs
of infection, such as fever, chills, swelling, pain, and
body malaise; instruct the client to avoid contact with
people with existing infections; instruct the client to
avoid eating raw fruits and vegetables and uncooked
meat; stress the importance of daily hygiene, mouth
care, and perineal care; and teach the client and
visitors the proper hand washing.
• Prevent bleeding. Assess for any frank bleeding
from the nose, gums, vagina, or urinary or
gastrointestinal tract and monitor platelet count.
 Complications
• Excess iron
• Bone deformities and broken bones
• Enlarged spleen
• Infections
• Slower growth rates