Case presentation : Thalassemia

9 September 2011, 20:38

Dr. Tushar Maniar



This is a common case that is asked in the exam. We have put the relevent points to be covered while taking the case . Also, some of the Q &A are mentioned. Your feedback is welcome.



  • Consanguinity
  • Community
  • Was admitted for receiving blood transfusion
  • Onset of noticing pallor —- months of age
  • Investigated and found to have an abnormal blood disorder
  • Time of 1st transfusion
  • Frequency of transfusion
  • Any increase in frequency now
  • How many bags of blood at present… so calculate his trans
    requirement in ml/kg/year
  • Where receives trans?… charitable blood bank? Hospital?
    General ward bed ( to highlight financial constraints
  • h/o rash or fever during trans
  • when was chelation started
  • what drug… how is it taken, how much dose, how many times a
  • any other treatment (ca, folic acid, antifailure drugs,
    hormonal supplements etc)
  • registered with thal society?
  • Advised for inv every 3 months
  • any special vaccines( if taken mention here or mention in
    immunization history)
  • any special inv done like MRI, bone scan
  • if advised surgery ( splenectomy), mention here



  • H/O not gaining adequate ht, Secondary sexual characters, Recent
    increase in frequency of transfusion , with easy fatigability, easy
    bruisability, repeated infections and fever, Abdominal distension, Bone pain/
    joint pain ( osteopenia, osteoporosis, AVN head of femur), Change in facial
    profile with prominent bones ( compli of disease itself)
  • h/o fatigue, swelling legs, palpitation ( cardiac iron
  • h/o jaundice, right hypochondriac pain ( liver iron overload)
  • nausea , vomiting, pain at injection site, bone pain, joint
    pain,rash, jaundice, repeated inf ( compli of chelation)



in parents, sibling… mention who are thal traits


IMMUNIZATION – complete till date


  • mention cost of chelation and trans per month
  • concessional rate from thal society
  • earning members
  • mention about financial constraints if any



  • vitals
  • thal facies- elaborate
  • anthro
  • pallor present, no “ICCLE”, no platynychia. No koilonychia
  • JVP
  • SMR
  • Any hyperpigmentation




liver — cm below costal margin in mcline, nontender, firm, smooth surface,
rounded borders, liver span—-, upper border felt in — intercostal space

— cm, splenic notch, smooth surface, moves with respi

SYSTEMS in detail



  • Mutations in

    • 5 most common mutations in Indian
      population with β thalassemia are 619 bp deletion
    • IVS 1-5 (G-C)
    • IVS 1-1 (G-T)
    • FS 8/9 (+G)
    • FS 41/42(-CTTT)9
    • Hb electrophoresis pattern in normal and in thal  variants
hbA2 HbF HbA
normal 2-3.5% <2% 96-97%
trait 3.5-8% 1-5% 90-95%
major 2-7% 20-100% 0-80%




  • Which

Sindhis, Punjabis, Bhanushalis, Lohanas, Mahars, Neobuddhists, Gowdas


  • Which chromosome  -11
  • In 1 sentence
    describe blood trans in a thal pt

10- 15 ml/kg of pure red cell transfusion which are fresh,
saline washed, leucodepleted , ABO and rh compatible at not more than 3-4
ml/kg/hour under supervision to maintain Hb above 10gm%

  • Reason for thal
    – bone
    marrow hyperplasia
  • Hypertransfusion

    maintain pretransfusion HB >10 gm%
  • Supertransfusion

    maintain pretransfusion HB >12 gm%


  • Moderate trans

    maintain pretransfusion HB between 9 and 10.5 gm%
  • No of
    normoblasts in adequately trans child
    – <5/100 WBCs
  • Causes of growth
    failure in thal
    – endocrine dysfunction + anemia+hypersplenism+ DFX+liver disease
  • Endocrine work
    up- when to do?

GTT, thyroid function test , ca, phosphorus every year from 5
yrs age.

  • MRI T2* values
    for cardiac iron load

>20ms- normal, 10-20 borderline iron overload, <10-
severe iron overload

  • MRI T2* values
    for liver iron load
    Liver T2 * values of >6.3ms are considered normal,
    6.3-2.7ms are mild, 2.7-1.4ms are moderate and <1.4ms are severe iron


  • Aims of
    : ferritin
    <2500 ng/ml
  • DFO- dose, duration, compli
  • DFP- details
  • DFX- details
  • Shuttle
      : use of 2 chelators together for better iron
    removal : eg DFP+DFO
  • Ind of splenectomy – >210 ml/kg/year of
    transfusion requirement
  • Why is this not
    a thal variant? 


  1. DR. TAPAS MOHAPATRA September 14, 2012 Reply

    Respected Sir,
    I have just passed DNB(Theory)in Paediatrics, and i really find this case presentation very good and beneficial for my preparation...I want to thank you for the pain you and your team are taking for helping us in improving our clinical skills...
    Thank you Sir
    Dr.Tapas Mohapatra

    • Dr. Tushar Maniar September 14, 2012 Reply

      Congratulations Dr Tapas ! on clearing DNB theory.
      Happy that you liked the case presentation.

  2. Rubina afroz October 8, 2012 Reply

    thank you for such a nice presentation,It will help me a lot to make a case presentation as I am a postgraduate student.


  3. Dr. Tushar Maniar October 17, 2012 Reply

    Dr Rubina,
    I am glad you have started preparing before the "last term". Let us know how to make this site useful to students.
    Thank you for your post

  4. Sajjad Saneeq December 21, 2012 Reply

    nice work......

  5. rushikesh kute December 25, 2012 Reply

    sir this kind of discussion will be useful for students
    ,some more cases and questions that can be asked will be useful

  6. Abhinay June 26, 2013 Reply

    respected sir,
    its really informative.
    kindly upload otehr common case presentations also.
    and also how to write provisional diagnosis of those cases.
    your information is always valuable for us.

  7. dr ankur February 2, 2014 Reply

    really useful presentation. very good work.

  8. dr ather qureshi May 27, 2014 Reply

    nice presentation it helped me very well in approach

  9. Samarth Patel November 2, 2014 Reply

    Thank u very much.Your site is very helpful.

  10. dr shraddha k April 23, 2016 Reply

    thank you so much for such a detailed presentation. very helpful indeed.

  11. Kashish January 31, 2018 Reply

    Thank you so much sir for such wonderful presentation. It is really helpful for Dnb practical exam preparation..sir it would be really helpful if such presentation could me made for other common exam cases..

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