Thalassemia case presentation by Allan

1. Allan Sia
Group 3

2. Name: Mohd Hafizan
Age: 12
Gender: Male
Address: Kuala Berang
Reason for visit: Blood transfusion

3. Known case of HbE Thalassaemia since 11 mths
old
Presented with pallor and abdominal distention
and less active baby
Admitted to HSNZ Ward 6EF, stayed 11 days and
investigations carried out
1
st
transfusion: 11 months
Initial frequency: once a month
2 years old: 3 weekly
Each time transfusion volume from 450-600 cc

4. 6 years old: splenectomy done in HSNZ. No
complication. Given injection once a month.
Regular follow up monthly in HSNZ.
Complication of Blood transfusion:
•Hepatitis C positive
•Blood transfusion reaction twice. (red spots all over
body)
•Abscess on dorsum of right hand due to cannulation
during blood transfusion in 2003.

5. •Iron Chelation Therapy
–Started at 8 years old,
–Overnight 8 hours
–Desferral 1500 mg ,5 times per week
–Injected by mother
–No complication of iron chelation therapy
•no visual problem
•No hearing problem
•No allergy
•No skin infections
•L1 (deferiprone)
–Started 3 months ago
–3 times/ day

6. •Musculoskeletal :
–no joint pain
–No fracture
–no myalgia
•CNS
–No headache
•Genitourinary
–No change in urine colour
–No urinary symptoms
•Endocrine
–No polyuria
–No polydipsia
–No polyphagia
–Growth normal

7. Hepatitis C positive
Admission to OPD for blood transfusion
every 3 weeks
No other medical illness

8. No consanguineous marriage between
parents

9. Birth history
•Antenatal uneventful
•Perinatal: fetal distress 2 to poor maternal effort,
emergency LSCS done
•Admitted to ward for 1 week
Developmental miles stones
•normal since childhood
• Studying in SK Sungai Buloh
•Weak in studies
•Height- no discrepancy with friends
Immunization – up to age

10. Drug history – NO additional
supplements, no known drug allergy
Diet History – reduced red meat intake
Social History
•Has many friends, able to play football
•No social problem
•Poor socioeconomic status, on social
support.
•Father odd jobs worker, mother housewife.

11. General Appearance
•Alert and conscious
•Not in respiratory distress
•Thin
•Frontal bossing of head, maxilla
overgrowth
•Dark skin

12. General examination
•Pallor
•Capillary refill time normal
•No cyanosis
•No clubbing
•No jaundice
•No lymph node enlargement
•No pedal edema
•No flapping tremor

13. •Pulse rate: 72 bpm
•RR: 16
•BP: 118/74 mmHg
•Temperature: afebrile
•Weight: 26kg
•Abdomen: soft, non tender. Transverse scar seen
over the left lumbar region approx 13cm, well
healed no tenderness. Hepatomegaly 4cm below the
right costal margin.
•CVS: no raise JVP, no features of HF, S1S2 heard, no
murmur.
•Resp: vesicular breath sounds heard in all lung field

14. •Provisional Diagnosis: HbE Thalassaemia
with hepatitis C
•Points for diagnosis:
•Diagnosed when 11 months of age
•Short transfusion interval
•Parents found to be carrier
•Another sibling also diagnosed with Thalassaemia and
another with trait
•Splenectomy done at 6 years old
•Hepatomegaly 4cm below the right costal margin
•Chipmunk facies

15. Full blood count
Blood film
Reticulocyte count
Electrophoresis
Red cell phenotyping
HLA

16. Full blood count
•Last result (September)
WBC count: 61.6 x 10^9/L
Platelet: 563 x 10^9/L
Hb level: 6.32 g%
Liver function test
•Albumin: 42 g/L
•Globulin: 37 g/L
•Alkaline phosphatase: 169
IU/L
•Alanine transferase: 56 IU/L
•Bilirubin: 31 umol/L
HIV, Hepatitis B and C
screening
•HIV non reactive
•Hepatitis C reactive
Ferritin
•Last result: 2493 ug/L
(September)