Thalassemia Major

Presented by:

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

Clinical features ANAEMIA - ICTERUS

-Unexplained Fever

-Poor feeding

-Enlarged spleen and liver

With progressive anaemiaHepatic fibrosis (5yr)Drakening of skinSideroblastic cardiomyopathyEndocrinopathies (D.M,

hypothyroidism)

OTHER COMPLICATIONSRecurrent infectionsGrowth retardationSepticemia

Bone changes

Frontal BossingFlat and depressed bridge of noseMandibular prominenceGeneralized skeletal osteoporosis

INVESTIGATIONS• COMPLETE BLOOD COUNT(<5-6g/dl)• RETICULOCYTES (5-10%)• RBC MORPHOLOGY(MICROCYTIC HYP

OCHROMIC ANEMIA)• SERUM • IRON • TIBC• BILIRUBIN

Hb electrophoresis

A2ELEVATED >3%

F> 90%

HbA absent

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

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Medical managementCOUNSELLING PATIENTBLOOD TRANSFUSION (Desired Hb-

presentHbxwt in kgx3)IRON CHELATION THERAPYASCORBIC ACID+FOLIC ACID SUPPLEMEN

TATIONSPLEENECTOMYBONE MARROW TRANSPLANT

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

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