CASE OF THALASSEMIA

Name: Aarohi
Age: 2 yrs
Informant: mother (reliable)
Address: Langer houz

Chief complaints: Distension of abdomen, pallor since 3months.

Breathlessness since 15 days.

History of present illness: The patient aarohi was apparently

asymptomatic 3 months back when the parents noticed
distention of abdomen which was gradually progressive
associated with pallor. It was associated with breathlessness
which caused limitation of playing/walking. It got relieved on rest.
She was given medication for breathlessness which caused no
improvement.
There is no complaint of eating unusual substances.
C/o breathlessness started again 15 days back not associated
with cough, fever, hemopytsis. It is aggravated on playing/
exertion.
There are no complaints of diarrhoea, vomiting, weight loss,
jaundice, fever.
The patient was given iron supplements for pallor but did not
respond to it.
2 months back she received a blood transfusion and post
transfusion there was no improvement.
Past history: similar complaints of breathlessness in the past i.e;
2 months back.
H/o blood transfusion 2 months back.
No h/o measles, tuberculosis, asthma, epilepsy,
jaundice.

Allergic history: no known allergens.

Drug history: iron supplements taken.

Family history: no known illness.

Consanguineous marriage (2nd Degree)
5yrs. 4yrs. 2yrs(affected)
32y 28
y8
y

5yr 4yr 2yr

Antenatal history: pregnancy was confirmed by UPT in 3rd

month. H/o nausea and vomiting.
Increased frequency of micturition present.
No h/o fever with rash/exposure to dust/ radiation/spotting PV.
Folic acid supplements were taken
Quickening felt at 5th month. TT was taken in 5th month. USG
was done in 20th week.
Calcium and iron Supplementation taken. No h/o bleeding PV/
GDM/PIH.
No h/o drug intake. USG done in 28th week.

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Natal history: FTNVD. Institutional. Baby cried immediately at
birth. Breast feeding was started within 2hrs.
Birth weight- 2.8kg.
Postnatal history: no h/o cyanosis, jaundice, dizziness, pallor,
respiratory distress.
Meconium was passed within 24hrs.
Urine was passed within few hours after birth.
The baby was started breast feeding.

Developmental history:

GROSS MOTOR OBSERVED EXPECTED

Neck holding 3 months 3 months
Roll over 5 months 5 months
Sitting with support 6 months 6 months
Sitting without 8months 8 months
support
Standing with 9 months 9 months
support
Standing without 12 months 12 months
support
walking 15 months 15 months
FINE MOTOR
Bidextrous grasp 4 months 4 months
Unidextrous grasp 6 months 6 months
Immature pincer 9 months 9 months
grasp
Mature pincer grasp 12 months 12 months
SOCIAL
Social smile 2 months 2 months
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Monosyllable 6 months 6 months
bisyllable 9 months 9 months
1-2 words with 12 months 12 months
meaning
2-3 word sentence 2 years 2 years

Inference: mental age- 2yrs,

IQ= mental age÷ chronological age× 100 =100

Immunisation history:

At birth BCG, OPV, HBV

6 weeks OPV1, DPT, HBV, HIB1
10 weeks OPV2, DPT, HBV, HIB2
14 weeks OPV3, DPT, HBV, HIB3
9 months Measles vaccine, Vit A
15 & 18 months DPT, OPV Booster1

Diet history:

proteins calories
BREAKFAST 1 cup upma 2gms 250 cal
LUNCH 1 cup rice 2 gms 150 cal
1 cup dal 5 gms 180 cal
¼ cup potato 0.5 gms 23.2 cal
SNACK 4 biscuits 2 gms 100 cal
1 cup milk 4.4 gms 104 cal
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DINNER 1 cup rice 2 gms 150 cal
1 kotori 1.2 gms 42 cal
spinach
OBSERVED EXPECTED DEFICIT
CALORIES 1100 kcals 1100 kcal nil
PROTEINS 16.5 gms 18 gms 1.5gms

Calories: upto 1 year-1000kcals, above 1 year- add 100kcals for

each year= 1000+100= 1100kcals
proteins: 1.5 gm/kg body weight(expected) = 1.5×12 = 18gms

Socioeconomic history: Pakka house, sanitation maintained.

Proper water supply maintained.
Salary- 7000/ month (3)
Electrician (4)
Intermediate (5)
“ Lower middle class”

General examination:
Patient is conscious, coherent, co-operative sitting
comfortably on bed. Irritable in behaviour.
Moderately built and nourished.

Head to toe: hair appears thin, depressed nasal bridge, forehead

Bossing,prominent upper incisors.
(HEMOLYTIC FACIES +)
Pallor and icterus present.
No lymphadenopathy, edema, cyanosis, clubbing.

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Vitals: temp: 98F
Pulse: 98bpm
Blood pressure: 100/70mmHg
Resp rate: 26/min

Anthropometry:

OBSERVED EXPECTED DEFICIT

WEIGHT 11kgs 12kgs 9%
HEIGHT 90 cms 90cms -
HEAD 48 cms 48cms -
CIRCUMFERENCE
CHEST 55 cms 55cms -
CIRCUMFERENCE
MID ARM 16 cms 16cms -
CIRCUMFERNCE

Weight age: actual weight/expected weight * age = 2years

Height age: 2years
Dental age: 2years
Mental age: 2years
FORMULA:
Expected weight:3-12 months:age in months+9÷2
1-6years:age in years×2+8
7-12 years:age in years×2-5÷2
Expected height:(age in years×6)+77cms

Local examination:

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Oral cavity: oral mucosa and tongue appear pale
Prominent incisors.
Oral hygiene maintained.

PER ABDOMEN:
Inspection: distended abdomen with downward shift and everted
umbilicus.
No scars, sinuses. No visible peristalsis/pulsations.
Palpation: no superficial tenderness/ guarding/ rigidity.
Deep: liver- 3cms from rt.costal margin, smooth surface,
rounded margin, firm in consistency, tenderness+.
Spleen- 4cms from costal margin, non tender, splenic notch felt,
rounded margins, firm in consistency. No other mass felt.
Percussion: no shifting dullness or fluid thrill. Normal resonant
sound heard, liver span- 9cms
Auscultation: bowel sounds heard. No bruit heard.

Other systems:
Resp system: RR-26/mins
Normal breath sounds heard.
B/L air entry present.
No added sounds heard.
Cardiovascular system: PR-98bpm
S1 S2 heard
Central nervous system: no focal neurological deficits.

SUMMARY: A 2 year old child who had complaints of distention

of abdomen for 3 months and breathlessness for 15 days with
history of 1 blood transfusion, with history of consanguinity was

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observed pale and icteric with frontal bossing, depressed nasal
bridge and prominent upper incisors.

Provisional diagnosis: Anemia with hepatosplenomegaly

suggestive of haemolytic anemia.

Investigations: CBP, ESR, MP (hemogram)

Peripheral smear
High performance liquid chromatography
Reticulocyte count
Osmotic fragility
G6PD levels
Sickling test
Serum ferritin
Coombs test
USG abdomen
Thyroid profile
Serum iron/ TIBC

Treatment of anemia:

Blood transfusions- packed red cells

Types of transfusion-
1) palliative transfusion- aimed at maintaining Hb at 8.5mg/dl
2) moderate transfusion- in this regimen pre-transfusion Hb is
maintained at 9-10.5 gm%
3) normo transfusion-prevents onset of severe
hepatosplenomegaly and haemolytic facies.
4) hyper transfusion- maintaining pre transfusion Hb above
10gm% and post transfusion Hb above 12mg/dl.

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5) super transfusion- maintain pre transfusion Hb above 12gm/dl.

About 180ml/kg red cells are required per year in non

splenectomised patients to maintain 10mg/dl. Splenectomized
patients require 133ml/kg/year, transfused @ 3-4ml/kg/hr every 2-
4 weeks to maintain above 10mg/dl.

Treatment of iron overload:

Chelation therapy- desferoxamine is given parentrally. Total dose
of 40-60mg/kg/day is infused over 8-12 hrs during night for 5-6
days a week.
Deferiprone given orally-dosage- 75mg/day
Deferasirox given orally- dosage- 30mg/kg/day.

Deforoxamine causes orange discolouration of urine due to

formation of "ferrioxamine"

Treatment of complications:

1) infections: Hep-B/C and HIV infection can occur due to

transfusion.
Hep-B vaccination and assessment of HIV status regularly helps
in prevention.
Yersinia enterocolitica infection presents as fever and diarrhoea.
This can be treated by Trimethoprim-Sulphamethoxazole.

2)hypersplenism: splenectomy is done in patients who require

more than 200-250ml/kg packed red blood cells per year. This
procedure prevents excessive destruction of red blood cells.

3)bone disease: this causes the classic chipmunk or hemolytic

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facies i.e; hair on end appearance of the skull due to widening of
diploid spaces. Maxillary overgrowth, prominence of upper
incisors. Osteoporosis and osteopenia may cause fractures.
Treatment includes calcium, vitaminD and bisphosphonates.

4)overload in different organs:

Specific treatment: bone marrow transplantation.

Genetic counselling: counselling of the parents and their family

should be done to prevent other children being born with
thalassemia major. Prenatal diagnosis helps in reduction of the
disease. Affected individuals should be counselled not to get
married other affected individual.

5) iron overload in different organs-

Endocrine- diabetes, hypothyroidism, hypoparathyroidism.
Decreased growth and lack of sexual maturation. Liver damage at
2yrs of transfusion. Liver fibrosis occurs after 10yrs. Cardiac
damage starts at 10yrs, cardiac failure occurs after 15 years.

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