thalassaemia for pathology in practical.pptx

For the students of anemia cond.

1. Thalassaemia World Thalassemia day 8 MAY

2. COOLEY’S ANEMIA “THALASSA” : GREEK WORD - GREAT SEA – first observed - MEDITTERANIAN SEA

3. THALASSEMIA

4. Thalassemia sydromes are a heterogenous group of inherited anemias characterised by reduced or absent synthesis of either alpha or Beta globin chains of Hb A Most common single gene disorder DEFINTION

5. INHERITANCE Autosomal recessive Beta thal - point mutations on chromosome 11 Alpha thal - gene deletions on chromosome 16

6. INFANTS: Age of presentation: 6-9 mo (Hb F replaced by Hb A) Progressive pallor and jaundice Cardiac failure Failure to thrive, gross motor delay Feeding problems Bouts of fever and diarrhea Hepatosplenomegaly CLINICAL FEATURES (THAL MAJOR)

7. BY CHILDHOOD: Growth retardation Severe anemia-cardiac dilatation Transfusion dependant Icterus Changes in skeletal system CLINICAL FEATURES (THAL MAJOR)

8. CHIPMUNK FACIES (HEMOLYTIC FACIES): Frontal bossing, maxillary hypertrophy, depression of nasal bridge , Malocclusion of teeth PARAVERTEBRAL MASSES: Broad expansion of ribs at vertebral attachment Paraparesis PATHOLOGICAL FRACTURES : Cortical thinning Increased porosity of long bones DELAYED PNEUMATISATION OF SINUSES PREMATURE FUSION OF EPIPHYSES - Short stature SKELETAL CHANGES

9. Others Delayed menarche Gall-stones, leg ulcers Pericarditis Diabetes/ cirrhosis of liver Evidence of hypersplenism

10. Moderate pallor, usually maintains Hb >6gm% Anemia worsens with pregnancy and infections (erythroid stress) Less transfusion dependant Skeletal changes present, progressive splenomegaly Growth retardation Longer survival than Thal major CLINICAL FEATURES (THAL INTERMEDIA)

11. Usually ASYMPTOMATIC Mild pallor, no jaundice No growth retardation, no skeletal abnormalities, no splenomegaly MAY PRESENT AS IRON DEFICIENCY ANEMIA (Hypochromic microcytic anemia) Unresponsive/ refractory to Fe therapy Normal life expectancy CLINICAL FEATURES (THAL MINOR)

12. IRON OVERLOAD ASSESSMENT S. Ferritin Urinary Fe excretion Liver biopsy Chemical analysis of tissue Fe Endomyocardial biopsies Myocardial MRI indexes Ventricular function – ECHO, ECG

13. 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 Radiological changes

14. X ray skull: “ hair on end” appearance or “crew-cut” appearance