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Case presentation : Thalassemia
By Dr. ADITI SHAH
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.
Case : THALASSEMIA
HISTORY:
- 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
week - 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
NEGATIVE
HISTORY
- 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
overload) - 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)
FAMILY HISTORY:
Inv
in parents, sibling… mention who are thal traits
NUTRITIONAL HISTORY
IMMUNIZATION – complete till date
S/E:
- mention cost of chelation and trans per month
- concessional rate from thal society
- earning members
- mention about financial constraints if any
GENERAL
EXAMINATION:
- vitals
- thal facies- elaborate
- anthro
- pallor present, no “ICCLE”, no platynychia. No koilonychia
- JVP
- SMR
- Any hyperpigmentation
SYSTEMIC:
Abdomen:
liver — cm below costal margin in mcline, nontender, firm, smooth surface,
rounded borders, liver span—-, upper border felt in — intercostal space
Spleen:
— cm, splenic notch, smooth surface, moves with respi
ALL
SYSTEMS in detail
DIAGNOSIS:
COMMON
QUESTIONS:
- Mutations in
thal- 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
- 5 most common mutations in Indian
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
communities
Kutchis,
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
facies– bone
marrow hyperplasia - Hypertransfusion
regimen –
maintain pretransfusion HB >10 gm% - Supertransfusion
regimen –
maintain pretransfusion HB >12 gm%
- Moderate trans
regimen–
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
overload.
- Aims of
chelation : ferritin
<2500 ng/ml - DFO- dose, duration, compli
- DFP- details
- DFX- details
- Shuttle
hypothesis : 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?
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
Congratulations Dr Tapas ! on clearing DNB theory.
Happy that you liked the case presentation.
thank you for such a nice presentation,It will help me a lot to make a case presentation as I am a postgraduate student.
Dr.Rubina
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
nice work......
sir this kind of discussion will be useful for students
,some more cases and questions that can be asked will be useful
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.
really useful presentation. very good work.
nice presentation it helped me very well in approach
Thank u very much.Your site is very helpful.
thank you so much for such a detailed presentation. very helpful indeed.
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..