Hemoglobin E/Beta-Thalassemia


Step 1: View clinicals

An 11 month old male infant of Laotian origin presents with reduced activity and a lack of interest in his surroundings for two months. His stools are not bloody or melenic, but his mother says that his abdomen feels swollen. She also complains that the infant cannot stand yet, despite having started to crawl three months ago. All other developmental milestones are age appropriate. He consumes a diet of rice, vegetables and meat in addition to being breastfed thrice a day after meals. Feeding has become difficult of late. All vaccinations are up to date.

Step 2: Order all relevant investigations

Full Blood Count

Hb: 5.4 g/dl (10.5-13.5) RBC: 6.1*10^9/ml (3.7-5.3*10^9) MCV: 58 fl (70-86) MCHC: 27g/dl (32-36) RDW-CV: 11.5% (11.5-16) WBC, Platelets: within normal parameters

Peripheral Blood Film

There are hypochromic microcytic red blood cells and target cells with occasional tear drop cells. All other cell lines appear normal.

Iron Studies

Serum Iron: 24 micromol/L (11-27) Serum Ferritin: 167 micrograms/L (30-500) Total Iron Binding Capacity: 51 micromol/L (45-66) Transferrin saturation: 47.05% (15-55)


HbE: 56% HbF: 41% HbA2: 3%

Step 3: Select appropriate management

Iron Replacement Therapy
Blood Transfusion
Iron Chelation

Score: ★★☆