Thalassemia

Definition
 Thalassemia is an inherited autosomal
recessive blood disease, results in reduced
rate of synthesis or no synthesis of one of the
globin chains that make up hemoglobin. This
can cause the formation of abnormal
hemoglobin molecules, thus causing anemia,
the characteristic presenting symptom of the
thalassemias
Etiology
 Thalassemia is always inherited, passed on from
parents to children through their genes.
 If only one parent passes a gene for thalassemia on
to the child, then the child is said to have
thalassemia trait.
 Alpha chain synthesis is reduced due to gene
deletion which reduces the level of all normal
hemoglobulin and causing alpha thalassemia.
 Beta thalassemia is usually caused by point
mutation rather than large deletions
Pathophysiology
 Hemoglobin is made of two proteins: Alpha globin
and beta globin. Thalassemia occurs when there is
a defect in a gene that helps control production of
one of these proteins.
 In beta thalassemia defective hemoglobulin is
synthesized as a result of impaired production of the
beta chain of hemoblobulinA.
 To compensate for decreased HbA, production of
HbF [fetal hemoglobulin ]increases.
.
 The RBCs are fragile and are easily
destroyed,shortening their life span
 As hemolysis increases iron containing
pigment accumulated from hemoglobin as the
red blood cells are destroyed .
 It is deposited in the skin causing a bronze
apperance.
 chronic anemia leads to hyperplasia and
thinning of the bone marrow to compensate
anemia.
 Pathological fractures and deformities occur.
 Spleenomegaly results from hyperactivity of
spleen and from pooling of cells
TYPES
 There are two main types of thalassemia:
 Alpha thalassemia occurs when a gene or genes
related to the alpha globin protein are missing or
changed (mutated).
 Beta thalassemia occurs when similar gene defects
affect production of the beta globin protein.
 There are many forms of beta thalassemia.
Thalassemia major [produces anemia requiring
transfusion]
 Thalassemia minor or thalassemia trait[produces
mild anemia]
 Thalassemia intermedia[produces moderate
anemia]
 Thalassemia minor
 Thalassemia minor occurs if the defective gene from only one
parent. Persons with this form of the disorder are carriers of the
disease and usually do not have symptoms or may have mild
anemia. This mild form of the illnes produced by hetrozygosity of
either alpha or beta chain
 Thalassemia major
 Beta thalassemia major is also called Cooley's anemia. it is a
severe form of the illness and associated with homozygous state
.in this condition the thalassemia genes are inherited from both
parents and synthesis of beta chain is markedly reduced.
Erythropoiesis becomes ineffective leading to hemolysis and
anemia.
 Thalassemia intermedia
 It is a state of chronic hemolytic anemia caused by deficient
alpha or beta chain synthesis. It is also a homozygous form. the
clinical features are mainly intercurrent illness with exaggeration
of anemia and persistent jaundice.
CLINICAL MANIFESTATION
 Children born with thalessemia major
(Cooley's anemia) are normal at birth, but
develop severe anemia during the first year
of life.
 Other symptoms can include
 Anemia [before diagnosis]
 Unexplained fever
 Poor feeding
 Greatly enlarged spleen
 With progressive anemia the child may
present with
 Signs of chronic hypoxia
 Headache
 Precordial and bone pain
 Decreased exercise tolerance
 Listlessness,
 Anorexia,
 Other features are small stature
 Delayed sexual maturation
 Bronzed, freckles ,complexion [if not
chelated]
 Bone changes [Older children if no
treated] includes
 Enlarged head
 Prominent frontal and parietal
bosses
 Prominent malar eminences
 Flat or depressed bridge of the nose
 Enlarged maxilla
 Protrusion of the lip and upper
central incisors and eventual
malocclusion
 Oriental appearance of eyes
Diagnostic evaluation
 HB – reduced to 2-6gm/dl
 RBC- reduced ,2 to 3 million/cmm
 HbF increased
 MCV,MCH,MCHC values are low
 Reticulocyte increased or low
 Peripheral smear shows –
Hypochromia,anisocytosis,poikilocytosis,mic
rocytosis,nucleated RBCs and target cells.
 WBC count may be reduced or sometimes
increased
 Platelet count is usually normal or
increased
 Serum bilirubin level is moderately
elevated
 Serum iron level is high
 Bone marrow shows –hypercellular and
hyperplasia
 Xray shows-changes in cortex, medulla,
long bones, skull bones.
Management
 Repeated blood transfusion
 Treatment for thalassemia major often
involves regular blood transfusions
 Blood transfusion is done every two to three
weeks at the rate of 10-15ml/kg.usually RBCs
are transfused.During transfusions, iron
supplements should not be taken to avoid
high amount of iron build up in the body.
 Iron chelating therapy
 Persons who receive significant numbers of
blood transfusions need a treatment called
chelation therapy to remove excess iron from
the body.
 Desferrioxamine [desferal] is recommended to
prevent complication of hemosiderosis.
 It is given as continous subcutaneous infusion
in the dose of 25 to 50 mg/kg/day over a
period of 8-12 hoursthrough mocroinfusion
pump.
 The therapy is given at night for 5-6 nights
after 10-15th transfusion. Intravenous
therapy is indicated in poor compliance and
large iron induced cardiac disease
 Excessive use of Iron chelating agent may
result in growth retardation,visual problems
and hearing toxicity .
 Vitamin C 100mg/day oral given concurrently
to enhance iron excretion
 Oral iron chelating defereprone 75-
100mg/kg/day in 2-3 divided doses
 The common side effects are joint pain
,nausea,vomiting ,pain abdomen.
 Bone marrow transplant may help treat the
disease in some patients, especially children
 Spleenectomy is done if the child needed
very frequent blood transfusion and develop
splenomegaly
 Folate supplements are recommended to
prevent more iron deposition
 Supportive therapy: Vaccination with Hep B
to prevent transfusion related infection.
Emotional support to child and parent.
Supportive management to treat
CCF/Hepatic failure
 New Approach – Gene Therapy –insertion of
normal gene in to the stem cell
Nursing management
 Preparation the child and family for
repeatedhospitalisation and treatment
 Administration of blood transfusion and iron
chelating agent with appropriate precautions
 Provision of supportive care with ret, comfort,
nutrious diet with restriction of iron containing food.
 Provide vitamin supplementaion, immunization,
hygenic care and other symptomatic care
 Preoperative and post operative care
during spleenectomy
 Provide adequate information about
treatment plan, prognosis and
complication
 Provide emotional support to the parents
and family
 Teach the parents about the importance of
compliance to the treatment
Prognosis
 Severe thalassemia can cause early death
due to heart failure a, usually between ages
20 and 30. Thalassemia minor lead normal
life.Patients with thalassemia intermedia can
life up to 5 to 6 decades.
Possible Complications
 Untreated, thalassemia major leads to heart
failure and liver problems, and makes a
person more likely to develop infections.
Blood transfusions can help control some
symptoms, but may result in too much iron
which can damage the heart, liver, and
endocrine system.
Nursing care plan
 Refer text book.