Case presentation : Thalassemia

9 September 2011, 20:38

Dr. Tushar Maniar

12

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
hbA2HbFHbA
normal2-3.5%<2%96-97%
trait3.5-8%1-5%90-95%
major2-7%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? 

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