Thalassemia - Genetic Disease of Hb synthesis with underproduction or no production of one globin chain.
Beta thalassemia means less beta chain production (minor) or abscence (major)
Hb electrophoresis: HbA2, HbF, Hb Electrophoresis
Sign & Symptoms of beta-thalassemia major (Cooley's Anemia) :
- severe anemia in 1st year
- failure to thrive
- extramedullary hemopoiesis : RBCs made outside the marrow - skull bossing, hepatosplenomegaly
- life long blood transfusion needed
- iron overload leading to endocrine failure: pituitary, thyroid, pancreas-DM, liver disease
Diagnosis:
- Hypochromic Microcytic Cells
- +target cells
- +nucleated RBCs
- raised HbF
Treatment
- Promote fitness
- Healthy diet - folate
- Folate Supplements
- Life Long Transfusion 2-4 weekly to keep Hb>9g/dl
- Iron-chelators to prevent iron overload - oral deferiprone + desferrioxamine s/c twice weekly
- Vitamin C to increase urinary excretion of iron
- Splenectomy after age 5 due to risk of transmission
Prevention
- Genetic Couselling
- Antenatal Diagnosis
- person who carry the gene of thalassemia
- not much of health issue except mild anemia
- promote fitness and take folic acid
For more information, please whatapps to 017-2822923 Klinik Medilove Kepong
