Thalassemia
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Transcript of Thalassemia
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THALASSEMIA
Presented by: Livson Thomas CON, CMC Ludhiana.
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Prevalence of Thalassemia
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DEFINITION
Thalassemia is a group of inherited/ hereditary disorders characterized by reduced or absent amounts of hemoglobin or synthesis of hemoglobin.
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TWO BASIC GROUPS OF THALASSEMIA DISORDER
Alpha Thalassemia
Beta Thalassemia: A person with this disorder has two mutated genes
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TYPES OF BETA THALASSEMIA
Beta thalassemia minor– the mildest form of beta thalassemia.
Thalassemia trait - heterozygous disorder resulting in mild hypochromic, microcytic hemolytic anemia.
Beta thalassemia intermedia - Severity lies between the minor and major.
Beta thalassemia major - homozygous
disorder resulting in severe transfusion-dependent hemolytic anemia.
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CLINICAL FEATURES
ANAEMIA - Pallor -Unexplained Fever -Poor feeding -Enlarged spleen and liver
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WITH PROGRESSIVE ANAEMIA
Anorexia Headache Restlessness Decreased activity tolerance
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OTHER FEATURES
Small stature Delayed sexual maturation Bronze complexion Failure to thrive, gross motor delay
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BONE CHANGES
Enlarged head Prominent frontal and parietal bone Flat and depressed bridge of nose Enlarged maxilla Generalized skeletal osteoporosis
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HB ELECTROPHORESIS
A2 E
<10% = A2>10% = E
F
A
Bart’s
H
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MEDICAL MANAGEMENT
BLOOD TRANSFUSION
IRON CHELATION THERAPY
FOLIC ACID SUPPLEMENTATION
SPLEENECTOMY
BONE MARROW TRANSPLANT
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BONE MARROW TRANSPLANT
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TYPES OF BMT
1. Autologous BMT
2. Allogenic BMT
3. Umbilical Cord BMT
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THANK YOU