Thalassemia major " Cooley's anaemia "

Cooley's anemia
Thalassemia major " Cooley's anemia "

- Beta-thalassemia refers to inherit the group of blood disorders characterized by a reduction or absence of the beta chain of globulin in haemoglobin syntheses.

- Haemoglobin b-thalassemia is the most severe of the b-thalassemia syntheses and is known as thalassemia major or cooleys anaemia.

Etiology :

- Genetically determined inherited disease.

- The autosomal recessive pattern of inheritance.

Incidence :

- Most prevalent in the Mediterranean, Middle East, India, Pakistan, Southeast, Asia and Africa.

Prognosis :

- No known cure.

- often fatal in late childhood or early adolescent.

Preventive measures :

- Parents of a child with thalassemia should be tested for the trait and referred for genetic counselling.

- Prenatal diagnosis terminates pregnancy .

Clinical manifestations :

- Insidious onset at the end of the 1st year of the life.

- Pallor, poor feeding, protuberant abdomen due to hepatosplenomegaly, headache, bone pain, exercise intolerance and easy fatigability and growth retardation.

Complications :

1. Splenomegaly and hepatomegaly due to extramedullary hemopoiesis and rapid destruction of RBCs. coagulation abnormalities.
2. Growth and endocrine complications :
- Growth retardation.
- Diabetes in older children due to iron deposition in the pancreas.
- Adrenal and pituitary dysfunction. 
3. skeletal complication :
- Maxillary hypertrophy. 
- Broad ribs. 
- Skeletal osteoporosis. 
4. Cardiac complication : 
- Arrhythmia, pericarditis, congestive heart failure " the usual cause of death of thalassemics ".
5. Skin :
- Brownish discolouration due to iron deposition. 
- Jaundice.

Treatment :

- Frequent and regular blood transfusion to maintain haemoglobin level above 9-10 gm/ dl.

- Packed RBCs usually used.

- Iron chelating agent to reduce the toxic side effects of excess iron " hemosiderosis ".

- E.g. deferoxamine: desferal.

- Folic acid.

- Splenectomy in huge hypersplenism.

- Bone marrow transplantation.


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