(Mediterranean anemia or Cooleys anemia)

Difficulty in breathing and pale appearance.

A 6 month infant from South Asia is brought to the clinic by her parents as she was noticed that she had difficulty in breathing , pale appearance , recurrent fever , mild jaundice and fatigue . Also, it was observed that the infant had bone deformities in the face and short stature.

The infant underwent blood tests including CBC and Hb electrophoresis that showed Bmajor Thalassemia which is a kind of severe anemia.

Then she was given a blood transfusion after which she became better. The General physician decided that she would undergo blood transfusions every 5 weeks with folat supplements. Also, she would undergo Iron chelation therapy (Desferioxamine) to prevent and treat hemosiderosis which may result from repeated blood transfusions due to high amount of iron in body that may cause heart and liver failure.

No known family illness. Father, Mother and Grandparents are alive and healthy.

None.

Clinical Findings RBC: 310/L WBC: 510/L MCV: 62 m

Normal Range (4.0-5.010/L) (4.1-10.910/L)

(80-100 m)

MCH: 21 pg
MCHC: 26 g/dL
Hb before transfusion: 4.5 g/dL Hb after transfusion: 12 g/dL

(26-34 pg)

(31-37 g/dL) (12-16 g/dL)

Hb F: 96.1 %

(under 2 %)

Hb A2: 3.9 %

(1.3-3.5 %)

Hb A: 0 %
Serum Iron before transfusion: 50 g/dL Serum Iron after transfusion: 150 g/dL

(60-160 g/dL)