Thalassemia Major

by:

Presented

FARYAL NASIB
ROLL#817

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

TYPES OF BETA THALASSEMIA

PATHOPHYSIOLOGY

 ANAEMIA
- ICTERUS

Clinical features

-Unexplained Fever
-Poor feeding
-Enlarged spleen
and liver

With progressive anaemia

Hepatic fibrosis (5yr)
Drakening of skin
Sideroblastic cardiomyopathy
Endocrinopathies (D.M,
hypothyroidism)
OTHER COMPLICATIONS
Recurrent infections
Growth retardation
Septicemia

Bone changes
Frontal Bossing
Flat and depressed bridge of nose
Mandibular prominence
Generalized skeletal osteoporosis

INVESTIGATIONS
COMPLETE BLOOD COUNT(<5-6g/dl)
RETICULOCYTES (5-10%)
RBC MORPHOLOGY(MICROCYTIC
HYPOCHROMIC ANEMIA)
SERUM

IRON

TIBC

BILIRUBIN

Hb electrophoresis

A2
ELEVATED
>3%

HbA absent

F> 90%

IMAGING STUDIES
X-RAYS IN THALASSEMIA MAJOR
HAIR ON END PATTERN IN SKULL
THINNING OF LONG BONE
CORTICES

COMPLICATIONS

Iron Overload
Bone diseases
Infections
Hypercoagulopathy
Alloimmune and RBCs
autoimmunization

Medical management
COUNSELLING PATIENT
BLOOD TRANSFUSION (Desired HbpresentHbxwt in kgx3)
IRON CHELATION THERAPY
ASCORBIC ACID+FOLIC ACID
SUPPLEMENTATION
SPLEENECTOMY
BONE MARROW TRANSPLANT
12

PROGNOSIS
DEATH DUE TO CONGESTIVE HEART
FAILURE USUALLY OCCURE WITHIN FIRST
YEAR OF LIFE UNLESS PATIENT IS
SUPPORTED WITH BLOOD TRANSFUSION
QUALITY OF LIFE IS IMPROVED WITH
SUPER TRANSFUSIONS AND CHELATION

INHERITENCE OF THALASSEMIA

TH A

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