Thalassemia is a genetic blood disorder characterized by reduced or absent globin chains that make up hemoglobin. There are two main types: alpha thalassemia affects alpha globin production and beta thalassemia affects beta globin production. Thalassemia major occurs when defective genes are inherited from both parents and results in severe anemia requiring lifelong blood transfusions and iron chelation therapy to remove excess iron from transfusions. Management involves regular blood transfusions to maintain hemoglobin levels, chelation therapy to remove excess iron from transfusions, and potentially spleenectomy. Prognosis depends on treatment adherence but most patients can survive into their 30s with supportive care.

1. THALESSMIA
Presented by- Mr. Binanda Singh

2. Introduction
 The term 'thalassemia is derived from Greek
word 'thalasa' meaning 'sea
 It was named so, because the disease had
highest incidence among people living around
Mediterranean sea like Italians, greeks and
Syrians.

3. Terminology
 Hypochrormic anemia (RBC cells are paler
than normal),
 Hemolysis ( break down of RBC cells)
 Erythropoiesis (process of RBC formations).
 Microcytosis ( small RBC cells)
 Hemosiderosis (excessive iron storage in
tissue without tissue damage) and
 Hemochromatosis (excessive iron storage in
tissues which results in tissue damage).

4. Definition
 Thalassemia is a inherited chronic disorders,
characterized by absence or decreased
synthesis of one or more globin chains of
hemoglobin.
 Hemoglobin is made up of two protein chains:
Alpha globin and beta globin.
 The patients show a variable degree of
hypochrormic anemia (RBC cells are paler than
normal), with evidence of hemolysis ( break
down of RBC cells) and ineffective

5. Types
 Thalassemia occurs when there is defect in
the gene that controls production of one of
these protein chains

6. There are two main types of
Thalassemia
 Alpha Thalassemia: It occurs when a gene or
genes related to alpha globin protein are
missing or changed (mutated).
 Beta Thalassemia: It occurs when gene
defect affects production of beta globin protein.
It is more common then alpha type

7. Depending on the severity,
Thalassemia is of two types:
 Thalassemia Minor: Defective gene is received
from one parent. It generally produces little effect
on hypochromia.
 Persons with this form of the child except mild
anemia with microcytosis ( small RBC cells) and
disease are carriers of disease and are usually
asymptomatic.
 Thalassemia Major: Defective gene is received
from both parents. Persons with known as
'Cooley's Anemia or Mediterranean Anemia',
 It is Thalassemia major have severe anemia and
all the clinical manifestations of the disease.

8. Pathologic Defect
 Thalassemia Major is associated with little or
no capacity to inadequate to produced B-chain
of hemoglobin.
 When beta chain production is absent or
inadequate to meets the demands of body,
marrow expansion occurs.
 Large numbers of RBCs are produced but
they are poorly hemoglobinized that they
never leave the marrow.
 RBCs that leave the marrow survive for only
short time.

9. CONTD….
 Marrow expansion continues leading to frontal
bossing and typical maxillary prominence.
 When the marrow fails to maintain an effective
hemoglobin level, tissue anoxia occurs and
repeated infections become evident.
 When hemoglobin level falls below 6 gm/dl,
cardiac failure develops.

10. Clinical Features
 The diagnosis of Thalassemia major is usually
made during the first year of life, perhaps as
early as three months, but more commonly
between 10-12 months age.
The clinical manifestations of Thalassemia
major -
 Absent or defective synthesis of hemoglobin
 Inadequately structured RBCs
 Decreased life span of RBCS

11. CONTD…
 Due to the above stated features, there is
rapid breakdown of RBCS leading to release
of iron.
 The excessive amount of insoluble iron is
deposited in the tissues leading to
hemosiderosis (excessive iron storage in
tissue without tissue damage) and
hemochromatosis (excessive iron storage in
tissues which results in tissue damage).
 Inability of the bone marrow to produce
sufficient number of normal RBCS leads to

12. Due to progressive anemia,
following features develop in the
child:
 Weakness
 Exercise intolerance
 Headache
 Anorexia
 Pre-cordial pain ( sharp, stabbing chest pain in
small area)

13. Rapid
Hemolysis
(break down of RBC cells)
affects almost all
Organs and Systems of the
body.

14. Skin
 Excessive iron released from rapid hemolysis
deposits under the skin causing greenish-
brown or bronze discoloration of skin.

15. Heart
 Hemochromatosis causes fibrotic (tissue
damage) changes in myocardium which may
lead to development of cardiac failure

16. Spleen
 Due to rapid destruction of RBCS
spleenomegaly occurs.
 Spleenomegaly causes abdominal distension
and functioning of other abdominal organs.

17. Liver
 Hemochromatosis leads to fibrosis of liver
cells, which progresses to liver cirrhosis.

18. Pancreas
 Hemochromatosis leads to fibrosis of
pancreas, leading to possible insulin
dependent diabetes mellitus

19. Endocrine System
 Chronic anemia results in delayed or absent
sexual maturation.
 Secondary sex characters rarely develop at
puberty because of endocrinal abnormalities.

20. Skeletal system
 The extreme
Erythroid
hyperplasia (
storage of immature
RBC ) in bone
marrow leads to
skeletal changes
like thinning of
cortex, widening of
medullary spaces
and osteoporosis.

21. Diagnostic Evaluation

22. Laboratory investigations
 Hemoglobin estimation.
1. Hemoglobin level is reduced. It is usually
between 2-6 gm/dl.
 Complete blood count -
1. Total erythrocyte count is low, usually in range of
2-3 million/mm
2. MCV, MCH and MCHC are low.
3. Reticulocyte count is elevated.
4. WBC Count reveals mild leucocytosis.

23. Contd…..
 Peripheral Blood smear
1. RBCs show hypochromia,
2. Microcytes and macrocytes are present
3. Fragmented red cells.
4. Large number of erythroblasts finding in
peripheral smear.
5. Immature WBCS may be present.

24. Contd…..
 Bone marrow examination
1. Bone marrow is hypercellular with erythroid
hyperplasia ( storage of immature RBC ) is
present.
2. Large insoluble iron deposit is seen in bone
marrow.

25. Contd….
 Serum billirubin
1. It is moderately elevated between 1 to 3 mg/dl
due to increased hemolysis.
 Serum iron
1. Serum iron levels are high as a result of
increased absorption and ineffective utilization of
iron and continuous hemolysis of red cells
leading to release of iron.

26. Contd…..
 Radiological studies
1. Earliest bony changes occur in small bones
of hands.
2. Medullary portion of bone is widened
3. Bony cortex is thinned out.
4. X-ray skull shows, hair-on-end appearance
due to interrupted porosity of skull bones

27. Management
 Thalassemia can't be cured but supportive
therapy is of value in maintaining sufficient
hemoglobin levels to prevent tissue hypoxia.
 Major therapeutic modalities include:
a. Blood Transfusion therapy
b. Chelation therapy
c. Spleenectomy

28. Blood transfusion therapy
 Blood transfusion is the mainstay of managing
Thalassemia.
 Children, who cannot maintain a hemoglobin
level of about 7g/dl, should receive regular
transfusions to maintain hemoglobin level
between 10-12 g/dl.
 This is necessary to prevent chronic
hypoxemia and to suppress ineffective
erythropoiesis.

29. Chelation therapy
 Rapid hemolysis and repeated blood transfusions
result in iron overload which causes
hemochromatosis and hemosiderosis.
 Each unit of transfused blood provides 200 mg of
elemental iron.
 This excessive iron deposits in various organs
leading to multiple organ failure.
 Chelation therapy is used to excrete excessive
iron in urine and create a negative iron balance in
the body.
 The iron-status of child should be monitored by

30. Contd…..
 Desferrioxamine is available as iron chelating
agent that may be given by parenteral route.
 It should be given subcutaneously in dose of
40-60 mg/kg/day over a period of 8-12 hours.
 Chelation therapy should start by 10th-15th
transfusion.
 Deferiprone is an effective oral iron chelating
agent with minimal toxicity.
 The recommended starting dose is
20mg/kg/day.
 The most common side effects of oral
deferiprone are arthritis and agranulocytosis.

31. Spleenectomy
 The spleen acts as a store for non-toxic iron,
protecting the body from extra iron, thus early
removal of spleen may be harmful.
 Spleenectomy is justified only in patients with
hyperspleenism, leading to excessive
destruction of erythrocytes and increasing
need for frequent blood transfusions which
results in further iron accumulation.
 This should be considered for the patients who
require more than 200-250 ml/kg of packed
red cells annually.

32. Nursing Management
 Early assessment
 Preparation of child for diagnostic procedures
 Care during blood transfusion
 Administration of chelation therapy
 Vitamin C should be avoided (e.g. citrus fruits)
as they increase iron absorption from diet.
 Prevention of infection
 Education and Support of parents and child

33. Prognosis
 The outcome depends on the severity of
disease.
 If the child has Thalassemia major, he
requires frequent blood transfusion and
chelation therapy.
 With chelation therapy the child can survive for
up to 30 years of age.
 Death usually occurs from cardiac
complications during 2nd decade of life.

34. Prevention
 Thalassemia screening should be done to find
out the carrier status of individuals who are
planning to get married and have children.
 Two persons who are Thalassemia minors
(carriers) should not marry as they may have
children with Thalassemia major.
 Birth of Thalassemia major children can be
prevented by marital counseling, prenatal
diagnosis and abortion of affected fetus among
Thalassemic parents.

35. Research input
 A Clinico-epidemiological Study of
Thalassemia Cases in India done by Nitin
Joseph et,al.
 Objectives: This study was done to assess
the clinical presentations and management
practices in thalassemia.
 Materials and Methods: Case sheets of
patients with thalassemia admitted over the
past 10 years from 2005 to 2014 were
examined and recorded in a validated pro

36. Results:
 Of the total 183 cases, 179 (97.8%) were of beta
thalassemia major, 3 (1.6%) of beta thalassemia
intermediate, and 1 (0.6%) of betathalassemia minor
category.
 The median age at diagnosis was 1 year. Hardly,
one-fourth of the cases were diagnosed in the first 6
months.
 Majority of cases were under-fives 58 (31.7%) and
were males 116 (63.4%).
 Fever was the most common presenting symptom 34
(18.6%).
 Pallor 179 (97.8%) followed by hepatomegaly 172
(94%) were the most common signs.
 Bone deformities were reported in 13 (7.1%) cases.