Thalassemia major " Cooley's anaemia "
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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