REFERAT

THALASSEMIA
Presented by:
Nur Annisya (1102014199)

Supervisor :
dr. Pulung M Silalahi, Sp.A

KEPANITERAAN KLINIK ILMU KESEHATAN ANAK RUMAH SAKIT

BHAYANGKARA TK. I RADEN SAID SUKANTO
PERIODE 02 JULI – 08 SEPTEMBER 2018
FAKULTAS KEDOKTERAN UNIVERSITAS YARSI
What is thalassemia?
• Genetic blood disorder resulting in a
mutation or deletion of the genes that
control globin production.
• Normal hemoglobin is composed of 2
alpha and 2 beta globins
• Mutations in a given globin gene can
cause a decrease in production of that
globin, resulting in deficiency
• aggregates become oxidized  damage
the cell membrane, leading either to
hemolysis, ineffective erythropoiesis, or
both.

REFERAT THALASSEMIA
 Demographics
These include Southeast Asia, China, India,
Africa, and parts of the Mediterranean.
Hemoglobin Molecule
Site of synthesis of hemoglobin
 Types of thalassemia

• α-Thalassemia
• β Thalassemia
Abnormal RBCs in PBF

Normal RBC
 Blood Transfusion
Whom to transfuse ?
Confirmed diagnosis of thalassemia major
• Laboratory criteria :
Hb <7 mg/dl on 2 occasions >2 weeks apart
OR
• Hb > 7mg/dl with:
Facial changes
Poor growth
Fractures
Extramedullary hematopoiesis1
 Transfusion Protocol
To maintain pre transfusion Hb >9-9.5 mg/dl
• Typical programs :
– Transfusion of 10-15 cc/kg of packed red cells
– Lifelong regular blood transfusions, every 2-5
weeks
A higher pre-transfusion hemoglobin level of
11-12 g/dl for patients with :
– Heart disease or other medical conditions
– Pateints who do not achieve adequate
suppression of bone marrow activity at lower Hb
level
 Diet and Supplementation
• High iron contained food should be avoided
• Diet which decreases iron absortion such as
milk and milk products should be taken
adequately
• Folic acid
• Zinc
• Vut. D, Vit. E
 Chelation Therapy
• Desferrioxamine (DFO)

• Deferiprone

• Deferasirox
Splenectomy
Deferred as long as
possible. At least till 5-6
years age.
Indications :
• Massive splenomegaly
causing mechanical
discomfort
• Blood requirements
>200-220 ml/kg/year
• Hypersplenism
 Bone Marrow / Stem Cell
Transplantation
• Only curative option available
• Overall outcome depends on
– Inadequate chelation therapy
– Hepatomegaly
– Presence of portal fibrosis

Treatment related mortality is approximately 10%

 Screening
• RBC indices (MCV< MCH< MCHC)

• NESTROFT

• HbA2