what is thalassemia, typical case scenarion, pathophysiology, symptom, signs, investigation and treatment of thalasemmia and about thalaseemic hero of Nepal

1. THALASSEMIAS
PRESENTATION BY : HARI SEDAI
ROLL NO : 1626
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2. Case
A patient named Sagar Babu Tharu, age 8 months, from
Mahendranagar, Nepal presented to TUTH Paediatric OPD with a
chief compliant of pallor since 1 month and difficulty in breathing
since 5 days. Babu was completely alright upto 6 months of age
after which it was noticed that he had pallor and difficulty in
breathing.
Babu was taken to many doctors who gave multiple drugs but the
condition remained the same, so he was brought to Chitwan and
taken to a local hospital where he underwent a CBC which showed a
severe anemia.
DD ????
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3. Various variants of hemoglobin
HbA :
α2β2, 95%-98% of hemoglobin in adults, 20-25% at birth
HbA2 :
α2δ2, 2%-3% of hemoglobin in adults, 0.5% at birth
HbF :
α2γ2, about 2.5% of hemoglobin in adults, 75-80% at birth
main respiratory pigment in the human fetus during the last seven
months of development in the uterus and persists in the newborn until
roughly 6 months old
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4. Thalassemia ( Apusta Raktakosh )
• Thalassa “the sea” (Mediterranean), emia “related to blood”
• Heterogeneous group of disorders caused by inherited mutations
that decrease the synthesis of either the α-globin or β-globin chains
of HbA
• Leads to anemia, tissue hypoxia, and red cell hemolysis related to
the imbalance in globin chain synthesis
• Autosomal recessive, M=F
• Common in belt from SE Asia to Africa
• India : Capital of Thalassemia, Maldives : highest incidence
• Nepal : common in Tharu community of Terai (malaria??)
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5. Mutations 5

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7. Pathophsiology
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8. Clinical Presentation
• β-thalassemia (no symptoms until about 3-6 months of age)
• After that, severe pallor, hepatosplenomegaly, icterus (+/-), mild to
moderate jaundice
• Intolerance to exercise, irritability, heart murmur or even signs of frank
heart failure, hyperuricemia (+/-)
• Frontal bossing, prominent facial bones, dental malocclusion
• Hyper metabolic state associated with fever and failure to thrive,
organomegaly, signs of cardiac siderosis
• Signs of endocrinopathy
• Thalassemia to be considered in any child with microcytic hypochromic
anemia not responding to iron supplementation
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11. Thalassemic/Rodent/Chipmunk/Hemolytic/Mongoloid
Facies 11

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13. Lab studies
Parameters Β thalassemia
trait
Thalassemia
intermedia
Thalassemia major (
Cooley’s Anemia )
RBCs
indices
MCV and MCH↓ MCV and MCH↓↓ MCV and MCH↓↓↓
Peripheral
blood smear
(PBS)
marked hypochromia,
microcytosis, presence
of target cells, no
anisocytosis
variable features
between two
severe hypochromia,
microcytosis, marked
anisocytosis, fragmented
RBCs, polychromasia,
nucleated red cells,
basophilic stippling of
RBCs
Hb >10 g/dl 8-10g/dl <7g/dl
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15. • In thalassemia major and intermedia
Reticulocyte count: elevated by 5-8%, leukocytosis with occasional
immature leucocytes
Platelets: normal or decreased due to hypersplenism
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16. HPLC Β thalassemia
trait
Thalassemia
intermedia
Thalassemia
major ( Cooley’s
Anemia )
HbF 2.5-5% >10% >90%
HbA2 4-9% 4-9% Normal or high
HbA > 90% 5-90% Usually absent
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17.  RBC Distribution Width = (S.D of MCV/MCV)*100%
Normal range = ( 11.5%-14.5% )
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19. Radiological findings
Skull: the occipital bone is spared due to the lack of hematopoietic
red bone marrow
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20. Ethmoid sinuses are spared on face due to the absence of red bone
marrow
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23. Osteoporosis and osteopenia of lumbar vertebra AP
view 23

24. Rib-within-a-rib appearance noted particularly in the middle and anterior portions of the
ribs
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25. Prevention, Complications and management
 Genetic counselling to couple, prenatal testing (CVS) of fetus, identifying and
screening carriers
 Blood transfusion: initiated at an early asymptomatic age, attempted to keep pre-
transfusion hemoglobin 9-10g/dl
 Folic acid, vitamin B, (Vitamin C???)
 Relatives circle for blood transfusion
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26. Iron overload
 Due to excessive iron absorption (inhibition of hepcidin) and repeated blood
transfusions
 Iron status to be monitored by serum ferritin, liver MRI and biopsy, echocardiography
 Chelation therapy:
Started after 1-2 yrs. of transfusions or when the ferritin level is about 1000-1500μg/l
Deferoxamine
Deferiprone
Deferasirox
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27. Hematopoietic stem cell transplantation
 Only known curative method
 Presence of hepatomegaly, portal fibrosis, and inadequate chelation prior to transplant
reduce its efficacy
Hypersplenism and splenectomy
 Splenectomy justifiable in hypersplenism and those who require more than 200-
250ml/kg of packed RBCs every year
 Spleen protects body from iron load in early stages
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28. Nepal Thalassemia Society
Paras Nath Mishra-A thalassemic Hero 28

29. Bibliography
Ghai Essential Paediatrics
Robbins and Cotrans Pathologic Basis Of Disease
Harrison’s Principle of Internal Medicine
"What Are the Signs and Symptoms of Thalassemias?". NHLBI
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30. Physiological anemia of infancy
 Definition
 Mechanism
 Physiological anemia of prematurity
 Treatment
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