Complications & Monitoring In

Transfusion Dependent
Thalassemia
Dr Rohaya Mohamad @ Zakaria
Paediatrician
Hospital Tuanku Fauziah, Perlis
05th June 2015
• Inherited hemoglobin disorder, results in
severe haemolytic anaemia
• Required regular blood transfusion
• Safe transfusion & adjuvant chelation
theraphy - extends life expectancy into fourth
& fifth decades of life
• major cause of death: cardiac
Followed by infection, hepatitis
Complications In Transfusion
Dependent Thalassemia
 Iron overload

Endocrine Cardiac Infection

ENDOCRINE COMPLICATIONS
1) Short stature & growth failure
– Prevalence 31 to 64%
– More prevalent in those above age of 10 years

– Definition:
• Height less than 3rd percentile for age & gender
• Significantly short for the family
• Slow growth rate over a period of 6 months to 1 year
• Downward crossing of height percentiles
– Attributed to
• Undernutrition, chronic anaemia, folate & zinc def
• DFO toxicity
• Associated endocrinopathies: hypothyroidism, delayed
sexual maturation, DM, IGF-1 def, growth hormone def
• Bone disorder
2) Delayed puberty & hypogonadism
– 59% of patient
– Delayed puberty: complete lack of pubertal dev in
girl by age of 13 y,o & boys by age of 14
– Hypogonadism:
• Boys: absence of testicular enlargement
• Girls: absence of breast development
• by age of 16 years
– Risk factor – high serum ferritin
 3) Hypothyroidism
– Primary thyroid dysfunction
– Incidence 6.2 – 51.7% & increases with age (mean
age 15.8 years)
– Strong association between high iron overload &
decreased thyroid function
– Asymptomatic
– L thyroxine 100mcg/m2/day
 4) Diabetes mellitus
– Damage of pancreatic B cells caused by iron
overload, lead to reduced insulin secretion
– Combination with insulin resistance
– Main risk factors:
• Poor compliance with DFO
• Delayed age at the start of chelation theraphy
• Liver cirrhosis
• Hep C infection
– Prevalence 10.4 – 19.5%
– Mean age diagnosis between 17 & 18 years
– Can present with DKA
 5) Osteoporosis / Osteopenia

– Low bone mass

– Resulting in weak bones & pathological fractures
 6) Hypoparathyroidism

– Incidence 4.5 – 20%

– Age of diagnosis – 11 to 24 years
– Asymptomatic
– Tx: calcitriol with or without calcium
carbonate/lactate
 7) Hypoadrenalism

– Prevalence 0 – 45%
– Mean age 13.5 + 3.9 years
– Asymptomatic
– During stressful condition; iv hydrocortisone
(stress dose) must be given
CARDIAC COMPLICATION
• Major cause of mortality (71%) & morbidity
• Sr ferritin > 2,500 ug/L – higher risk of developing
cardiac complication & death
• Onset – 10 years of age
• Symptoms
– Usually asymptomatic until late stage
– Can present as heart failure, arrhythmias & sudden
death
– Cardiac failure can be reversible with intensification of
chelation therapy
• Ix
– 12 lead ECG & Holter monitoring
• If pt had specific symptoms, ex palpitation, shortness of
breath & syncope.
– Echocardiogram
• Left ventricular ejection fraction (LVEF) < 56% indicates
impaired myocardial function
– MRI T2*
• Early detection of cardiac siderosis
INFECTION
 Hepatitis B
– Prevalence in Malaysia 2.4%
– Can lead to chronic liver disease & hepatocellular
CA
– Vaccination needs to be given to unvaccinated or
for those who unsure of vaccination status
– If anti-HBs level < 10 mIU/ml, a booster dose given
– If had positive HBsAg,
• other ix needed to be done: LFT, HBeAg, HBV-DNA
– Refer gastroenterologist
 Hepatitis C
– Prevalence in Malaysia 13.9% to 22.4%
– Hep C inf + iron overload will increased risks of
cirrhosis & HCC
– Ix needed to be done: anti HCV antibody
• HCV- RNA, HCV genotype, liver biopsy
• HIV infection
– Very rare
 Bacterial infection
– Risk factors: post splenectomy, diabetes,
previous history of melioidosis & iron
overload (esp if SF > 5000ug/L)
– Need to seek early treatment & admitted to
ward
– Empirical tx : 3rd generation
cephalosporins+ aminoglycosides
– Withold chelation tx: DFO, DFP
MONITORING IN TRANSFUSION
DEPENDENT THALASEMIA
• During each admission for blood tx
1. Clinical assesment
– Height, weight, liver & spleen size, any adverse
side effect of chelation theraphy
2. Pre tx hb, plt count & WCC (If on
deferiperone
3. Post tx hb – ½ hour post tx
4. Calculate volume of pure RBC tx
5. Review current medications
• Every 3 – 6 monthly
– Evaluate growth & development
– Serum ferittin
– Liver function test
• 6 monthly
– Infection screening ( Hep B, Hep C, HIV, VDRL )
• Every year or more frequent if indicated
– Endocrine assessment
• Modified GTT, T4/TSH, Ca, Po4
• Sr cortisol
– Pubertal & sexual dev
– Hormonal levels
• FSH, LH, oestradiol or testosterone
– Annual volume of pure red blood cells tx
– Evaluate iron balance & overload status
– Bone: osteoporosis & skeletal abN
• Cardiac assessment – at variable interval &
esp after 10 years of age
– Yearly ECG or holter monitoring for aryhthmia
– Annual cardiac echocardigraphy
– Cardiac T2* MRI
• Repeated every 2 years if normal
THANK YOU