2. • Cooley's anemia
• Meditteranian anemia
• Derived from Greek word 'Thalassa' which
means great sea.
OR
3. • Thalassemia is a heterogenous group of inherited anemias
characterised by reduced or absent synthesis of
hemoglobin(either alpha or Beta globin chains of Hb A)
• Most common single gene disorder
DEFINTION
4. Incidence
• common among people of Italian, Greek, Middle Eastern,
South Asian, and African descent.
• The prevalence is more in India. > in Gujaraties, Sindhis,
Punjabis
• Thousands of children are born with thalassemia every year.
• Around 250 Thalassemia patients are registered with Nepal
Thalassemia Society (NTS) and around 300 patients get blood
transfusion in different hospitals of the country.
6. Pathophysiology:
• Due to hereditary inability to synthesis globin polypeptide chain( α or β)
• Ineffective erythropoiesis/ hemolysis (due to immature RBCs)
• If synthesis of α chain is reduced due to gene deletion – level of all 3
normal Hb A (2α ,2β), A2 (2α,2 δ),F(2α,2γ) reduced alpha thalassemia
• If β chain is suppressed - adult Hb is suppressed/ due to mutation
beta thalassemia
Beta thalassemia is the most common.
7. Anemia results from lack of adequate Hb A
→ tissue hypoxia→↑EPO production →
↑ erythropoiesis in the marrow and
sometimes extramedullary → expansion of
medullary cavity of various bones
Liver spleen enlarge → extramedullary
hematopoiesis
PATHOPHYSIOLOGY in short
9. 1. Thalassemia Major
Leading to malfunction and failure of liver, spleen, heart.
Iron from breakdown of RBCs gets deposited in various organs
Results in hepato splenomegaly
Leads to extramedullary hemopoiesis
Since, Anemia stimulates erythropoietin
Ineffective erythropoiesis leading to Hemolysis and anemia.
Beta- chain are inherited from parents and synthesis is reduced.
Is a severe form and is Associated with homozygous state.
10. 2. Thalassemia Intermedia
Leading to chronic failure of liver, spleen, heart, osteoporosis,
hepatomegaly, chronic anemia
Iron from breakdown of RBCs gets deposited in various organs
Intercurrent illness with anemia, persistent jaundice occurs
Due to deficient alpha &Beta- chain synthesis.
Is a state of chronic hemolytic anemia.
11. 3. Thalassemia Minor
Mild jaundice, abdominal pain occurs
Due to heterozygosity of alpha &Beta- chain.
Is a minor/ mild form of anemia/ asymptomatic
12. Clinical Manifestations
Usually is manifested at age of 3 months with
• Progressive pallor
• Jaundice
• Hepatosplenomegaly
• Recurrent respiratory infections
• Enlargement of lymph nodes
• Growth failure
• In severe cases, mongoloid face is seen: bossing of skull, prominent frontal
and parietal eminences
• Maxilla becomes prominent with exposure of malformed teeth
• Depressed bridge of nose with puffy eyes
15. Diagnostic evaluation
• H/C
• P/E
• Hb – reduced (3-9mg/dl)
• RBC count – reduced, hematocrit are reduced.
• WBC, platelets – normal or reduced
• RBC indices – MCV & MCH,MCHC reduced
• PBS shows hypochromia, microcytosis, nucleated RBCs
• Serum bilirubin is moderately elevated
• S. iron level is high.
16.
17. Diagnostic evaluation ( contin..)
• Osmotic fragility test : increased- resistance or decreased fragility
• Bone Marrow study: hyperplastic erythropoiesis.
• Radiological findings show: Small bones (hand ) – earliest bony change,
rectangular appearance, medullary portion of bone is widened &bony
cortex thinned out with coarse trabecular pattern in medulla
• Skull – widened diploid spaces – interrupted porosity gives hair on end
appearance
• Delayed pneumatization of sinuses – maxilla appears overgrown with
prominent malar eminences
18. X ray skull:
“ hair on end”
appearance
or
“crew-cut”
appearance
19. Diagnostic evaluation ( contin..)
• For IRON OVERLOAD ASSESSMENT:
• S. Ferritin
• Urinary Fe excretion
• Liver biopsy
• Chemical analysis of tissue Fe
• Endomyocardial biopsies
• Myocardial MRI indexes
• Ventricular function – ECHO, ECG
20. Management
1.Repeated blood transfusion:
• BT with special precaution to prevent infection at 4-6 wks interval (Hb~
9.5 gm/dl)
• Packed RBC, leucocyte-poor
Hb to be maintained –
• Hypertransfusion : >10 gm/dl
• Supertransfusion : >12 gm/dl
• If regular transfusions- no hepatomegaly then
10-15ml/kg PRBC raises Hb by 3-5gm/dl
21. 2.CHELATION THERAPY - DESFERRIOXAMINE
• Is given to prevent the BT complications.
• ( 1 unit of blood contains 250 mg iron)
• Iron-chelating agents: desferrioxamine- Dose: 25-50mg/kg/day over
8-12 hours.
• IV / s/c infusion pump over 12 hr period 5-6 days /wk
• Start when ferritin >1000ng/ml
• Best >5 yrs
• Vitamin C 100 mg/day - enhances DFO induced urinary excretion of
Fe
•
27. Nursing diagnosis
• 1. Altered tissue perfusion related to abnormal hemoglobin.
• 2. Risk of infection related to repeated blood transfusion.
• 3. Activity intolerance related to anemia, fatigue.
• 4. Chronic pain related to skeletal changes.
• 5. Disturbed Body image related to bony changes and facial
deformities.
28. Prognosis:
• Life expectancy: 5-6 decades in thalassemia intermedia
• Untreated: < 5 yrs
• Poor prognosis in thal. Major
• Thal. Minor may lead near normal life.
29. Prevention:
-PRENATAL DIAGNOSIS
• β/α ratio: <0.025 in fetal blood
– Thal major
• Chorionic villous biopsy at 10-
12 wks
• amniocentesis at 15- 18th
wk gestation Analysis of
fetal DNA
• PCR to detect β globin gene
30. • Antenatal diagnosis
• Termination of pregnancy if Thal major
• Preventing marriage b/w traits
