This document provides information on thalassemia, a hereditary blood disorder characterized by reduced hemoglobin synthesis. It discusses the pathogenesis, classification, clinical manifestations, complications, diagnostic evaluation, and management of thalassemia major and intermedia. Management involves regular blood transfusions, iron chelation therapy, splenectomy in some cases, and supportive care. New approaches include gene therapy and transplantation, while preventive measures consist of antenatal screening and genetic counseling.

1. UNIT-V
HEMATOLOGICAL DISORDERS
Thalassemia
Prepared By:
SANJAY SIR
GOVT.CON
NEW CIVIL HOSPITAL
SURAT
GUJARAT
INDIA
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2. INTRODUCTION:
 The word “thalassemia” is derived from
the greek words “thalassa” means the
great sea. The disease was first described
by cooley in 1925. It was first noticed in
patients originating from the littoral
countries of the mediterranean sea. At
present the disease has been found in
several countries all over the world.
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3. DEFINITION:
 Thalassemia is a group of hereditary
hemolytic anemia characterized by
reduction in the synthesis of hemoglobin. It
produces hypochromic microcytes anemia
due to defective hemoglobinization of
RBCs, hemolysis and ineffective
erythropoiesis. Thalassemia can be
considered as hemolytic and
hypoproliferative anemia related to
abnormal hemoglolbin.
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4. PATHOGENESIS:
 The basic defect is the hereditary inability
to synthesis globin polypeptide chain (
alpha or beta ) which results in ineffective
erythropoiesis and hemolysis due to
immature, thin RBCs with short life span.
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5. CLASSIFICATION:
 Depending upon the severity of the disease
thalassemia can be divided into three groups.
Severity of thalassemia depends upon:
 (a) type of mutation affecting beta chain
synthesis.
 (b) presence of alpha chain mutation.
 (c) effect of gamma chain synthesis.
 (d) association of other hemoglobinopathies.
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6. TYPE:
Thalassemia Major
Thalassemia Intermedia
Thalassemia Minor
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7. CLINICAL MANIFESTATIONS OF
THALASSEMIA MAJOR:
 Thalassemia major usually manifested at
the age of 3 months with
 Progressive pallor
 Jaundice
 Hepatosplenomegaly
 Recurrent respiratory infection
 Enlargement of lymph nodes
 Growth failure
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8. CONTI…..
 In severe cases facial appearance becomes
mongoloid and characterized by bossing of the
skull, prominent frontal and parietal
eminences with flat vault and straight
forehead.
 Maxilla becomes prominent with exposure of
malformed teeth.
 Bridge of the nose becomes depressed with
puffy eyes.
 Anorexia, poor feeding and abdominal
distention may present.
 Irregular fever may occur due to intercurrent
infections, and increased metabolic activity.
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9. CLINICAL MANIFESTATIONS OF
THALASSEMIA INTERMADIA
 Intercurrent illness with exaggeration of
anemia
 Persistent jaundice
 Chronic liver dysfunction
 Osteoporosis
 Mild hepatomegaly
 Chronic anemia
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10. COMPLICATIONS
 CCF
 Hepatic failure
 Aplstic crisis
 Intercurrent infections
 Gallstone
 Growth retardation
 Transfusion related infections ( HIV, HB, HC)
 MOD ( multi organ dysfunction )
 Skeletal complications
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11. DIAGNOSTIC EVALUTION:
 Blood examination.
 Bone marrow study shows hypercellular
and erythroid hyperplasia.
 Osmotic fragility test shows decreased
fragility.
 Radiological findings show skeletal
changes.
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12. MANAGEMENT:
Repeated blood transfusion
 It is given at regular interval to maintain
the hemoglobin level at least 10 to 11g/dL.
Interval and amount of blood transfusion
depends upon the level of hemoglobin of the
child. Usually 10 to 15 ml/kg every 2 to 3
weeks washed packed RBCs are transfused.
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13. IRON CHELATION THERAPY
 Iron chelating agent desferrioxamine is
recommended to prevent complications of
repeated blood transfusion.
 It is given as continuous subcutaneous
infusion in the dose of 25 to 50 mg/kg/day
over a period of 8 to 12 hours.
 Special microinfusion pump is used.
 Usually this therapy is given at night and 5
to 6 nights per week.
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14. SPLENECTOMY
 Splenectomy is indicated when the child
need very frequent blood transfusion and
develop hypersplenism or big spleen
causing discomfort.
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15. FOLIC ACID SUPPLEMENTATIONS
 Folic acid supplementation are
recommended whereas iron therapy and
dietary iron should be avoided to prevent
more iron therapy
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16. BONE MARROW TRANSPLANTATION
 Bone marrow transplantation is an
effective treatment modality with potential
of curing thalassemia. Defective stem cells
are replaced by normal stem cells. It is
extremely expensive and possible in only
very selective cases.
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17. SUPPORTIVE MANAGEMENT
 Supportive management is important to
manage associated problems and to treat
complication (like CCF, hepatic failure).
Vaccination with hepatitis ‘B’ to be given
to prevent transfusion related infection
along with other routine immunization.
Emotional support is very essential to the
parent and child. Basic supportive nursing
care are very important to prevent various
complications.
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18. NEW APPROACHES
 New approaches in the management of
thalassemia are gene therapy and gene
manipulation. In gene therapy, insertion of
normal gene is done in the stem cells to
correct underlying defect. It is done done in
two approaches, i.e. somatic and
transgenic.
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19. NURSING INTERVENTIONS
 Assessment of child condition to prevent
complications that can be done as hospital
based or community based (at home)
 Preparation for repeated hospitalization for
treatment of the disease and its
complications.
 Arrangement of necessary diagnostic
measures.
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20. CONTI….
 Administration of blood transfusion and iron
chelating agent with appropriate precautions for
specific therapy.
 Provision of supportive care with rest, comfort,
nutritious diet with restriction of iron containing
food. Vitamin supplementation, immunization,
hygienic care and other symptomatic care.
 Prevention of infection by aseptic techniques and
promotion of general cleanliness.
 Preoperative and postoperative care during
splenectomy with necessary health education
after the surgery.
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21. CONTI….
 Information regarding treatment plan, prognosis
and complication to be given to parent and family
members with appropriate explanation.
 Emotional support to the parents and family for
effective coping about the stress of the illness.
 Teaching the parent about importance of follow-
up, blood transfusion, investigation, signs of
complication, dietary restriction, activity
modification, recreation, diversion and available
treatment facilities.
 Referral and necessary guidance for available
support services and community facilities.
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22. PREVENTIVE MEASURES
 Antenatal screening in the first trimester of
pregnancy by amniocentesis or chorionic
villous sampling or fetoscopy help to detect
thalassemia in fetal life.
 Genetic counseling in the respect is very
important measures which guide the parent
to decide whether to continue pregnancy
with thalassemia fetus or to terminate
pregnancy of affecting fetus.
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23. PRINCESS