Structure of Haemoglobin THALASSEMIA It result from reduced

Structure of Haemoglobin

THALASSEMIA It result from reduced or absent production of beta chain in globin.

Common Hereditary Hemoglobin disorder(HHD) • A) Beta- Thalassemia: Major, Intermedia, Minor(trait or carrier) • B)Hemoglobin E disorder: Hemoglobin E disease, HB E trait. • C)Hemoglobin E beta thalassemia: Mild, moderate, severe.

Clinical presentation: • Progressive Pallor, Mild jaundice. • Bony changes like thalassemic Facies : maxilla hyperplasia, flat nasal bridge, fronta bossing • Growth retardation • Splenomegaly, mild hepatomegaly. • Complecation due to Iron overload(hemosiderosis) in liver, heart, endocrine like thyroid, gonad, parathyroid, pancreas.

Thalassemic facies

Investigation CBC with PBF: Hb-Reduced, Microcytosis, Anisopoikilocytosis, target cells, nucleated cells, basophilic stippling, Reticulocyte not markedly increased, RDW-decreased. Osmotic fragility test: reduced Iron studies: serum iron , Ferritin, transferrin saturation are increased. Iron binding capacity decreased. Radiological study: widening of medulla, thinning of cortex and prominent trabeculation-hair on end appearance. Hemoglobin electrophoresis. HPLC(High Performance Liquid chromatography). DNA Analysis.

Skull change Thinning of cortex, Widening of medulla, Prominent trabeculation (hair on end appearance)

HB chromatography.

• Management: Transfusion Therapy: Adequate Transfusion- Maintain a pretransfusion Hb level of 9. 5 - 10. 5 gm/dl. Transfusion should be given at intervals of 34/wk. we give packed RBC, leukoreduced RBC, Neocyte transfusion. • Chelation therapy: one year of transfusion therapy and correlate with serum ferritin more then 1000 ng/ml or liver iron conc. more then 5000 micro gm/gm dry wt liver. • There are 3 available iron chelators; Deferoxamine, Deferasirox and Deferiprone. • Splenectomy: High transfusion requeirment, Hypersplenism, Huge splenomegaly with mechanical discomfort • Bone Marrow Transplantation.

Counseling the parents About natural history of disease Genetic counseling