**5. Clinical presentation of β-thalassemia**

#### **5.1. History**

The history in patients with thalassemia widely varies, depending on the severity of the condition and the age at the time of diagnosis. In most patients with thalassemia traits, no unusual signs or symptoms are encountered, children with thalassemia major usually present between 3 months and 1 year of life, and occasionally presentation is delayed to 4−5 years [15].

Some patients, especially those with somewhat more severe forms of the disease, manifest some pallor and slight icteric discoloration of the sclerae with splenomegaly, leading to slight enlargement of the abdomen. Thalassemia should be considered in any child with hypochromic microcytic anemia that does not respond to iron supplementation [15].

#### **5.2. Physical**

Patients with thalassemia minor are often asymptomatic. They have mild anemia and their Hb level is usually not less than 9−10 g/dl therefore pallor and splenomegaly are rarely observed.

The stigmata of severe untreated α-thalassemia major included the following:


Patients with signs of iron overload may also demonstrate signs of cardiomyopathy and endocrinopathy caused by iron deposits. Diabetes and thyroid or adrenal disorders have been described in these patients [16].
