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
Thalassemia is an inherited blood disorder. in which the body makes an abnormal form of hemoglobin.
ReplyDeleteHemoglobin is the protein molecule in red blood cells that carries oxygen. The disorder results in excessive
destruction of red blood cells, which leads to anemia.