THALASSEMIA

Presented by: Livson Thomas CON, CMC Ludhiana.

Prevalence of Thalassemia

DEFINITION

Thalassemia is a group of inherited/ hereditary disorders characterized by reduced or absent amounts of hemoglobin or synthesis of hemoglobin.

TWO BASIC GROUPS OF THALASSEMIA DISORDER

Alpha Thalassemia

Beta Thalassemia: A person with this disorder has two mutated genes

6

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.

CLINICAL FEATURES

ANAEMIA - Pallor -Unexplained Fever -Poor feeding -Enlarged spleen and liver

WITH PROGRESSIVE ANAEMIA

Anorexia Headache Restlessness Decreased activity tolerance

OTHER FEATURES

Small stature Delayed sexual maturation Bronze complexion Failure to thrive, gross motor delay

BONE CHANGES

Enlarged head Prominent frontal and parietal bone Flat and depressed bridge of nose Enlarged maxilla Generalized skeletal osteoporosis

HB ELECTROPHORESIS

A2 E

<10% = A2>10% = E

F

A

Bart’s

H

MEDICAL MANAGEMENT

BLOOD TRANSFUSION

IRON CHELATION THERAPY

FOLIC ACID SUPPLEMENTATION

SPLEENECTOMY

BONE MARROW TRANSPLANT

BONE MARROW TRANSPLANT

TYPES OF BMT

1. Autologous BMT

2. Allogenic BMT

3. Umbilical Cord BMT

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