Presentation on theme: "Mediterranean Anemia-Thalassemia"— Presentation transcript:
1Mediterranean Anemia-Thalassemia Kakavoulis NikolaosPatras Ioannis
2What is Thalassaemia ?Thalassaemia is a group of inherited disorders of hemoglobin synthesis characterized by reduced or absence of one or more of the globin chains of adult hemoglobin .Genetically, it is autosomal recessive blood disease.The name is derived from the Greek words Θάλασσα= Sea" and ”Αίμια= Blood" in reference to anemia of the sea.
3Demographics: Thalassemia Found most frequently in the Mediterranean, Africa, Western and Southeast Asia, India and Burma15% of the greek population have the ‘’T’’ gene.
4GeneticTypes of Thalassaemia : There are two basic groups of thalassaemia.Alpha ( )ThalassaemiaBeta ( )Thalassaemia
5Normal Human Haemoglobins Structural formulaAdultHb-A2 %Hb-A22 %Fetal (And 1% in adults)Hb-F2 %EmbryonicHb-Gower 12 2Hb-Gower 22 2Hb-Portland2 2
7β Thalassemia β Thalassemia: deficient/absent beta subunits Commonly found in Mediterranean, Middle East, Asia, and AfricaThree types:MinorIntermediaMajor (Cooley anemia)May be asymptomatic at birth as HbF functionsDifferent populations de novo method of thalassemia developed
10Clinical Outcomes of β-Thalassemia β Thalassemia minor (trait)asymptomaticmicrocytosisminor anemiaβ Thalassemia intermediasymptoms similar to Cooley Anemia but less severeβ Thalassemia major (Cooley Anemia)most severe formmoderate to severe anemiaintramedullary hemolysis (RBC die before full development)peripheral hemolysis & splenomegalyskeletal abnormalities (overcompensation by bone marrow)increased risk of thrombosespulmonary hypertension & heart failureCooley asymptomatic at birth due to presence of HbF. As HbF decreases and HbB increases, pt develops Cooley Anemia.Excess B Hb turn on programs that lead to cell death thus intramedd hemolysis.Splenomegaly due to tissue masses accum from overcomp of bone marrow.Risk of thromboses are multifactorialPulm hypertension and CGH cause is unsure
11PathophysiologyDisturbance of ratio between α & non-α globin chain synthesis then absence or decrease production of one or more globin chainsFormation of abnormal Hb structuresIneffective erythropoiesisExcessive RBCs DestructionIron OverloadExtra-medullary hematopoiesisIncreased HbF expression
12Signs & Symptoms Thalassaemia Minor : Usually no signs or symptoms except for a mild anemia.Thalassaemia Major :1. Paleness, Jaundice or yellow coloured skin.2. Growth retardation.3. Bony abnormalities specially of the facial bones.4. Enlarged spleen and liver.
15Laboratory Diagnosis Thalassemia minor: Haemoglobin : Haemoglobin level is usually normal or mildly reduced.Peripheral blood film : Hypochromia and Microcytosis (similar to Iron Deficiency Anemia).MCV< 75 fl, RDW < 14%.Reticulocyte Count increasesDecrease Osmotic FragilityHaemoglobin electrophoresisMean corpuscular volume
17Other Special Procedures Globin Chain Testing - determines ratio of globin chains being produced.DNA Analysis - Determine specific defect at molecular DNA level.
18Course and treatment of thalassaemia If Untreated thalassemia Major : Death in first or second decade of lifeIntermedia: variable life spanMinor/Minima: Normal life span
19Treatment for β Thalassemia Trait – no treatment requiredIntermediaMajor (Cooley anemia)Regular folate supplementationRBC transfusion (Splenectomy may decrease need for transfusions)to maintain [Hgb] ~9-10g/dLBlood transfusions iron accumulation iron overloadIron chelators (diferroxamin)
20Suggestions for encountering the disease in a more efficient way Raising awareness for more frequent blood donations, since patients with β-thalasseamia require frequent transfusions8th of May: Thalassemia awareness day.