Allan Sia Group 3

Name: Mohd Hafizan Age: 12 Gender: Male Address: Kuala Berang

Reason for visit: Blood transfusion

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

1st transfusion: 11 months Initial frequency: once a month 2 years old: 3 weekly Each time transfusion volume from 450-600

cc

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.

• 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

• 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

Hepatitis C positive Admission to OPD for blood

transfusion every 3 weeks No other medical illness

No consanguineous marriage between parents

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

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.

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

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

• 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

• 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

Full blood count Blood film Reticulocyte count Electrophoresis Red cell phenotyping HLA

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)