REVIEW OF THALASSEMIA

1. MS.LINCY SAMSON .S
NURSING TUTOR
GANGA COLLEGE OF NURSING
COIMBATORE

2. REVIEW OF THALASSEMIA

3. Learning Objectives
At the end of the class the students will be able to
• define thalassemia
• list down the causes of thalassemia
• describe the Pathophysiology of thalassemia
• discuss the clinical manifestations of thalassemia
• state the diagnostic evaluation of thalassemia
• explain the management of thalassemia.

5. Functions of Blood
 Transports
 Nutrients absorbed from GI tract
 O2 – from lungs to cells of whole body
 CO2 – from metabolized cells to lungs
 Wastes - from metabolized cells to kidney
 Hormones – from endocrine glands to target cells
 Body temperature control
 Maintenance of body fluid pH (Buffering action)
 Prevent blood loss (coagulation)
 Prevent diseases (phagocytosis and antibody production)

7. INTRODUCTION
Thalassemia
greek word
“sea”.
is derived from
thalassa meaning
Thalassemia is a
hemolytic disorder
hereditary
occurring
predominanently in persons of
mediterranean or asian origin.
The disease first described by
Cooley in1925

8. DEFINITION
Thalassemia is a group of inherited disorders of
hemoglobin synthesis characterized by a reduced or
absent one or more of the globin chains of adult
hemoglobin. (two α and two β )
It is a autosomal recessive disorder
They are characterised by varying degrees of
ineffective hematopoiesis and increased hemolysis

9. INHERITANCE PATTERN

10. TYPES

11. CLASSIFICATION
• Thalassemia major
• Thalassemia intermedia
• Thalassemia minor

12. CLASSIFICATION cont..
Thalassemia major
• It is a severe form of illness and associated with
homozygous state
• Thalassemic genes are inherited from both the
parents and synthesis of beta chain is markedly
reduced
• Erythropoiesis becomes ineffective leading to
hemolysis and anemia.

13. CLASSIFICATION cont..
Thalassemia intermedia
• It is a state of chronic hemolytic anemia caused
by deficient aplha or beta chain synthesis
• The child will have exaggeration of anemia and
persistent jaundice
• Persistent liver dysfunction, osteoporosis,
hepatomegaly and chronic anemia

14. CLASSIFICATION cont..
Thalassemia minor
• It is a mild form of illness produced by
heterozygosity of either alpha or beta chain.
• It may be completely asymptomatic or may have
very mild anemia, mild jaundice and abdominal
pain.

15. β -thalassemia (cooley anemia)
β -thalassemia is the most common of the
thalassemias and occurs in four forms :
Thalassemia Minor
It is asymptomaticand
silent
Carrier.
Thalassemia Trait
Produces a mild microcytic
anemia
Thalassemia Intermedia
Moderateto severe anemia
with splenomegaly
Thalassemia Major
Severe anemia-cardiac
failure-death

16. PATHOPHYSIOLOGY
Normal postnatal Hgb is composed of
two α and two β
In β thalassemia (partial or complete deficiency in the synthesis
of β chain in Hgb molecules)
Consequently, there is compensatory increase in the synthesis
of α-chains
Resulting in defective Hgb formation
Unbalanced and unstable polypeptide unit
Damage the RBC and severe Anemia

17. CLINICAL FEATURES
ANEMIA ( BEFORE
DIAGNOSIS)
PROGRESSIVE ANEMIA
Pallor
Poor feeding
Unexplained fever
Hepatomegaly
Splenomegaly
(Hemosiderosis andhyper
function of spleen)
Headache
Pericardial and Bone pain
Anorexia
Decreased exercise tolerance
Listlessness

18. CLINICAL FEATURESCont...

19. Clinical features of β – Thalassemia major
β – Thalassemia facial
bone abnormalities.
These changes
include bossing of the
skull; hypertrophy of
the maxilla, exposing
the upper teeth;
depression of nasal
bridge; and periorbital
puffiness

20. Clinical features of β – Thalassemia major
pallor, short stature,
massive
hepastosplenomega
ly and wasted limbs
in this
undertransfused
case of β –
Thalassemia major

21. CLINICAL MANIFESTATIONScont..
• Bridge of the nose become depressed with puffy
eyes
• Anorexia
• Poor feeding
• Abdominal distension
• fever

22. CLINICAL MANIFESTATIONScont..
• Increased pigmentation of the skin found as bronze
discoloration due to high level of melanin and
hemosiderin
• Hypogonadism
• Poor nutritional status with reduced activity
• Growth retardation
• Pathological fracture due toosteoporosis

23. DIAGNOSTIC EVALUATION
• History collection
• Physical examination(splenomegaly)
• Hb electroporoseis –conform thediagnosis
• Radiographs of involved bones

24. DIAGNOSTIC EVALUATIONcont...
Peripheral smear
• Microcytic hypochromic
anemia, basophilic
stippling, marked
anisopoikilocytosis,
Target cells
• Reticulocyte count; mildly
increased
• Leucocyte; increased
Platelet; normal
Indices
• Hb 3-8 g/dl
• MCV = <70fl
• MCHC=(22 to 30g/dl)
• MCH=(20-28pg)
• S.iron(>200µg/dl),
s.ferrtin markedly
increased
• Transferrin saturation
increased, TIBC- Normal
or reduced.
Prenatal diagnosis using amniocentesis at 20 weeks gestation or
fetal blood sampling at 10 weeks and screening for thalassemia trait

25. MANAGEMENT
• TRANSFUSION THERAPY (every 3-5 weeks)
Maintain at least 10.5mg/dl Hgb before doing any
activities for the child
Before administering check
• Hemolytic
• Allergic reaction
• Febrile infection
• Circulatory overload
• Air embolism
• Over administration of iron

26. MANAGEMENT
Advantages of Transfusion therapy
1. Improved physical and psychological well-being
because of the ability to participate in normal activities.
2. Decreased Cardiomegaly and Hepatosplenomegaly
3. Fewer bone changes
4. Normal or near-normal growth and development until
puberty
5. Fewer infection

27. MANAGEMENT
Administration of Chelation Therapy
Aim:To remove excessive iron from the body
Inj. Defaroxamine a total dose of 40-60 mg/kg/ day is infused over 8-
12 hours during the night for 5-6 days a week by a mechanical pump.
Severe toxicity may develop if chelation therapy is started prematurely.
Eye examinations,hearing tests and renal function tests are required
to monitor the effectsof deferoxamine therapy.

28. MANAGEMENT
• Splenectomy is justified only in hypersplenism, which is
associated with excessive destruction of erythrocytes
that increases the need for frequent blood transfusions,
resulting in further iron accumulation.
• Patients who require more than 200-250 ml/kg of packed
red blood cells per year to maintain hemoglobin may
benefit from this procedure.

29. MANAGEMENT
Hematopoietic stem cell transplantation
• It is the only known curative treatment for
thalassemia

30. MANAGEMENT
Administration of Growth hormone
• Excessive chelation with deferoxamine may cause
growth retardation; growth hormone may be effective in
increasing growth rate in all thalassemic child particularly
the ones with growth hormone deficiency.

31. COMPLICATIONS
• Infections : hepatitis B and C and HIV.
Hepatitis B vaccination and regular assessment
of the hepatitis and HIV status are required.
• Bone disease : Osteoporosis and osteopenia
may result in fractures. Such children may need
treatment with calcium, vitamin D and
bisphosphonates to improve bone density.

32. COMPLICATIONS
• Extra medullary hematopoiesis : occur in
children with severe anemia, e.g. thalassemias
intermedia, who are not receiving transfusion
therapy. neuropathy or paralysis from
compression of the spine or peripheral nerves.

33. NURSING MANAGEMENT
• Early assessment
• Collection ofhistory
• Prepare procedure
• X-Ray, laboratory test
• Observe complication
• Blood transfusion
• Prepare before surgery
• Parents education
• Dietary management
• Improve facial appearance

34. NURSING MANAGEMENT
• Improve tissue oxygenation, monitor signs – signs of
hypoxia , cyanosis, hyperventilation, increased pulse
apex, breath frequency and blood pressure .
• Provide frequent rest periods to reduce oxygen
consumption.
• Monitor blood products , transfusion reactions examine
signs (fever, anxiety, cardiac dysrhythmias, chills,
nausea, vomiting, chest pain, urinary red / black,
headache, back pain, signs of shock / renal failure ).

35. NURSING MANAGEMENT
• Monitor for signs – a sign of excess fluid circulation
(dyspnoea, the increase in the frequency of breathing,
cyanosis, chest pain, dry cough).
• Minimize or eliminate pain .
• Prevent infection, assess
malaise, soft tissue and
swollen .
of infection, fever,signs
lymph nodes inflamed /

36. NURSING MANAGEMENT
• Monitor for signs of complications : vascular collapse
and shock, splenomegaly , infarction of bone and joints,
leg ulcers, stroke , blindness, chest pain, dyspnea,
delayed growth and development .
• Provide age-appropriate explanations to children about
procedures and hospitalization .
• Give support to children and families .
• Encourage family members screened .

37. Diet and supplements
• Oral folate at minimum 1 mg daily
• Low dose Vitamin C at 3mg/kg augments iron excretion
for those on Desferral only.
Dose: <10 yrs, 50mg daily; >10yrs, 100mg daily given
only on desferral days
• Vitamin E as antioxidant
• Calcium and Zinc
• Foods rich in iron should be avoided

38. PARENTALEDUCATION
• Improve personal appearance by using cosmetic
, hairstyle, clothing
• Vocational training and guidance
• Educate and support parents and family
member
• Genetic counseling for the parents and fertile
offspring

39. COMPLICATIONS

40. β – Thalassemia major long term
complications
• Hemochromatosis – excessive irondeposits
precipitating in the tissue and causing
destruction.

41. NURSING DIAGNOSIS
• 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.
• Imbalanced nutrition: less than body requirements related
to lack of appetite
• Ineffective family coping related to impact of the disease to
family functioning.

42. Summary
Nursing care of the child with β-thalassemia
includes observing for complications of
multiple blood transfusions, assisting the
child in coping with the effects of illness,
and fostering parent-child adjustment to
long-term illness.

43. Reference
 Marlow-Text book of PediatricNursing,
1996, Elsevier.
 Hockenberry- Wong’s Essentials ofPediatric
Nursing, 2012, Elsevier.
 Ghai, Essential paediatrics, 2009, CBS.