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 1^st 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

• 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?