Medical student case approach to anemia

1. PAEDS- Hematology
Diagnosis: Thalassemia
CC: A 14 years old girl presented to clinic with history of pallor for 3 weeks noticed by
relatives.
HEADING POINTS OTHERS
HOPI Acute complaint:
Pallor for 3 weeks noticed by
relatives
Heart failure symptoms
No fever, no recurrent infection
No easy bruising, no gum bleeding,
no epistaxis
No other anemic symptoms
No melena
No hematemesis
No menorrhagia – not attained
menarche yet
Active as usual
No yellowing of skin, no tea colored
urine
No LOW, no LOA
No bone pain
Exclude:
Leukemia – pancytopenia
Acute/chronic blood loss
Hemolytic anemia
Malignancy
PMH Thalassemia history:
- Diagnosed in 2009, age 6
- Presented with yellowish
discolouration of eyes and
face
- Referred to hospital, noted Hb
6.7g/dL
- No fever, pallor, itchy skin
- No abdominal pain, tea
coloured urine, pale stool
- No hematuria, no melena
- No easy bruising,
spontaneous bleeding
- No anemic symptoms
(interruption in daily
activities)
- Investigation done on parents
and siblings
- Confirmed diagnosis:
HbE/beta-thalassemia
- Medications: folic acid tablets,
iron chelators
(desferioxamine)
Exclude:
- Iron deficiency anemia
- Infection

2. - Blood transfusion: 4-6 weeks
interval, pre and post Hb
levels (7 to 9 g/dL)
- Complication of blood
transfusion: itchiness (IV
hydrocortisone pre
transfusion), skin
pigmentation, not attained
menarche, no pubic & axillary
hair
- Complication of iron
chelators: none
- Monitoring: infectious
screening negative,
eye/hearing/ cardiac
assessment normal, serum
ferritin & thyroid level normal
- Follow up: Paediatrics,
thalassemia clinic,
Ophthalmology, ENT, Medical
(echo)
No chronic disease
No IBD
Transfusion related
complications:
- Immediate:
- Infection: HIV, Hep B,
Hep C
- Iron overload:
cardiomyopathy,
pericarditis, liver
cirrhosis, hypersplenism,
delayed growth &
puberty,
hypothyroidism,
diabetes
Iron chelators complication:
- Desferioxamine
(subcutaneous
injection): local skin
reaction, bone toxicity,
ear toxicity, eye toxicity
Monitoring:
Monthly: Hb, RP, LFT
3 monthly: serum ferritin
6 monthly: infective screening
(Hep B/C, HIV, VDRL)
Annually: RBS, Echocardiogram,
MRI Heart/liver, serum
calcium/phosphate, Bone
density scan, Hormone level
(LH, FSH, Estrogen,Thyroid)

3. No worm infestation
Drug hx - Folic acid tablet
- Iron chelators (Desferral)
- L-thyroxine
- Vit C tablet
- IV hydrocortisone (pre
transfusion)
Birth hx - Mother anemic, on Tab Iberet
- Admitted to NICU for NNJ at
day 1 of life, given
phototherapy
- Negative G6PD screening
Diet hx - Avoid beef and Milo
- Otherwise, not a picky eater.
Consume vegetables and
protein everyday
Diet for thalassemia patient:
- Avoid iron-rich food (red
meat, cereals,
chocolate, spinach)
- Dairy product (rich in
calcium)
Developmental
hx
- Up to her age
- Not physically active
- Develop SOB and easily
fatigue
Family hx - Both parents: HbE/beta-
thalassemia trait,
asymptomatic
- Brother: trait, asymptomatic
- No history of malignancy
- Similar symptoms
- Carrier
HEADING POINTS OTHERS
General - Branula connected to IV PBRC
- Pale, not icteric
- Small built
- No thalassemic facies
Small for age: plot on
growth chart
Dark skin: pigmentation
(iron overload)
Scratch mark
Thalassemic facies: frontal
bossing, maxillary
hyperplasia
Bruises at arm: repeated
blood transfusion

4. Vital signs: afebrile, not tachypneic, not
tachycardic
Hands, face, neck, mouth:
- No clubbing, palmar erythema,
leukonychia, koilonychia, palmar
pallor
- Conjunctival pallor, no scleral
jaundice
- No lymphadenopathy
- Others: Tanner stage 2 breast
- No angular stomatitis, no glossitis,
pale mucous membrane
Stigmata of chronic liver
disease: iron overload
Stigmata of anemia
Delayed growth &
puberty: iron overload
Abdominal Inspection:
- Distended, injection marks at
lumbar area
Palpation:
- Hepatosplenomegaly
- Liver: firm edge, smooth, 14cm
- Spleen: smooth, firm, traube’s space
dull, 7cm
Hepatosplenomegaly
Lipodystrophy/scar
periumbilical: iron
chelators
Cardiovascular Normal Arrythmia
Pericarditis
Heart failure – displaced
apex beat
Respiratory,
Neuro
Normal
Diagnosis: HbE/Beta thalassemia intermedia
Justify: present later at age more than 2 years old, less anemia
Differentials:
- IDA
- Leukemia
- G6PD deficiency
INVESTIGATION EXPECTED FINDINGS OTHERS
Diagnosis:
1. FBC Anemia: Hb 6.7 g/dL
MCV: microcytic
MCH: hypochromic
Hct: low
Platelet: normal
TWC: normal
Exclude:
Infection
Leukemia

5. 2. Full blood picture
3. Iron studies
4. Hb Electrophoresis
5. High performance
liquid chromatography
(HPLC)
Hypochromic,
microcytic anemia
Anisopoikilocytosis
Target cells, tear drop
cells
Low iron
High TIBC
Mentzer index
Low ferritin
HbA decreased/absent
HbF increased
Quantification of HbA2
and HbF
Mentzer index
(MCV/RBC):
<13 for IDA, >13
for thalassemia
Serum ferritin:
iron overload
Monitoring:
1. FBC
2. Iron studies
3. LFT
4. Infective screening
Hb: pre and post
Platelet count
WBC
Serum ferritin
Serum bilirubin
Liver enzymes
Hep B/C
HIV
VDRL
Pre transfusion
Hb: 9-10g/dL
Post transfusion
Hb: 13.5-15.5
g/dL
Iron overload
Iron overload
For monitoring
Before 1st
blood
transfusion
Iron overload

6. 5. Random blood sugar
6. TFT, serum
calcium/phosphate/PTH
7. Hormone level (FSH, LH,
estrogen)
8. MRI heart, liver, bone
density scan
Diabetes
Iron overload
Iron overload
Iron overload
MANAGEMENT POINTS OTHERS OTHERS
Blood
transfusion
therapy
Start when:
- Hb <7g/dL on 2 occasions, 2
weeks apart, absence of
infection
- Impaired growth
- Severe bone changes
- Hepatosplenomegaly
Pre transfusion ix:
- Phenotyping (ABO, Rh)
- Viral screening
- LFT
Hypertransfusion regime (thalassemia
major)
Frequency: once a month
Pre transfusion Hb: 9-10g/dL
Post transfusion Hb: 13.5-15.5 g/dL
Monitoring:
- Acute transfusion reaction
- LFT
Iron overload
Iron chelation
therapy
Start when:
- >10 blood transfusion
- Serum ferritin > 1000mcg/L
1) DFO (Desferioxamine, Desferal)
- Subcutaneous injection
- SE: ear, eye, bone toxicitiy,
local skin
reaction/lipodystrophy
2) DFP (Deferiprone)
- Oral TDS

7. - SE: agranulocytosis
3) DFX (Deferasirox, Ejade)
- Oral OD
- SE: renal impairment
Diet - Avoid iron rich food (red meat,
cereals, chocolate, spinach)
- Dairy products
- Oral folate supplementation
- Vitamin C supplementation
Surgical:
Splenectomy
Bone marrow
transplant
(hematopoietic
stem cell
transplantation)
Indication:
- Evidence of hypersplenism
- Massive splenomegaly
Pre op immunization
- Pneumococcal vaccine
- Hib vaccine
- Meningococcal vaccine
Post op chemoprophylaxis
Oral Penicillin
Donor: siblings
Done before 5 y/o
Contraindication:
- Hepatomegaly
- Iron chelation therapy
- Iron overload
Hypersplenism:
Splenomegaly with persistent
leucopenia/thrombocytopenia
Risk of splenic rupture/infarct
Genetic
counselling
Relatives at risk
Hereditary nature
Prevention of transmission
Monitoring - Monthly: Hb, RP, LFT
- 3 monthly: serum ferritin
- 6 monthly: infective screening
(Hep B/C, HIV, VDRL)
- Annually: RBS,
Echocardiogram, MRI
Heart/liver, serum
calcium/phosphate, Bone
density scan, Hormone level
(LH, FSH, Estrogen,Thyroid