1. Thalassemia

2.  it is a genetic disorder of hemoglobin
synthesis in which there is defective
synthesis of alpha or beta chains.
Thalassemia is an inherited autosomal
recessive blood disorder.
which results in excessive destruction of
red blood cells and further leads to anemia.

5. Clinical Presentations
*Thalassemia minor- characterized by mild
anemia
*Symptoms of beta thalassemia major appear in the
first two years of life.
 Fatigue and weakness
 Pale skin or jaundice (yellowing of the skin)
 Protruding abdomen with enlarged spleen and
liver

6.  Dark urine
 Abnormal facial bones and poor
growth
 A poor appetite.
 Adolescents with the severe form of
beta thalassemia may experience
delayed puberty.

7. Hemolytic anemia:
 Anemia.
 Jaundice.
 Hepatosplenomegally due to
extramedullary hemopoiesis.
 Rodent facies (prominent malar
eminences & malalignement of the
teeth) due to facial bone deformity 2ry
to bone marrow hyperplasia.

8. Management :
 Mild thalassemia : patients with thalassemia traits do
not require medical or follow-up care after the initial
diagnosis is made.
 Patients with β-thalassemia trait should be warned
that their condition can be misdiagnosed for the
common Iron deficiency anemia.They should eschew
empirical use of Iron therapy; yet iron deficiency can
develop during pregnancy or from chronic bleeding.

9.  Counseling is indicated in all persons with genetic
disorders, especially when the family is at risk of a
severe form of disease that may be prevented.
 Severe thalassemia : Patients with severe thalassemia
require medical treatment. A blood transfusion
regimen was the first measure effective in prolonging
life.
 Medications as Deferoxamine , Deferiprone ,
Deferasirox
 Bone marrow transplantation