1 / 21

Mediterranean Anemia-Thalassemia

Mediterranean Anemia-Thalassemia. Kakavoulis Nikolaos Patras Ioannis. What is Thalassaemia ?. Thalassaemia is a group of inherited disorders of hemoglobin synthesis characterized by reduced or absen ce of one or more of the globin chains of adult hemoglobin .

hailey
Download Presentation

Mediterranean Anemia-Thalassemia

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Mediterranean Anemia-Thalassemia KakavoulisNikolaos Patras Ioannis

  2. What is Thalassaemia ? Thalassaemia is a group of inherited disorders of hemoglobin synthesis characterized by reduced or absenceof 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.

  3. Demographics: Thalassemia • Found most frequently in the Mediterranean, Africa, Western and Southeast Asia, India and Burma • 15% of the greek population have the ‘’T’’ gene.

  4. GeneticTypesof Thalassaemia : There are two basic groups of thalassaemia. • Alpha (  )Thalassaemia • Beta (  )Thalassaemia

  5. Normal Human Haemoglobins

  6. Chromosomes

  7. β Thalassemia • β Thalassemia: deficient/absent beta subunits • Commonly found in Mediterranean, Middle East, Asia, and Africa • Three types: • Minor • Intermedia • Major (Cooley anemia) • May be asymptomatic at birth as HbF functions

  8. Clinical Outcomes of β-Thalassemia β Thalassemia minor (trait) • asymptomatic • microcytosis • minor anemia β Thalassemia intermedia • symptoms similar to Cooley Anemia but less severe β Thalassemia major (Cooley Anemia) • most severe form • moderate to severe anemia • intramedullaryhemolysis (RBC die before full development) • peripheral hemolysis & splenomegaly • skeletal abnormalities (overcompensation by bone marrow) • increased risk of thromboses • pulmonary hypertension & heart failure

  9. Pathophysiology Disturbance of ratio between α & non-α globin chain synthesis then absence or decrease production of one or more globin chains Formation of abnormal Hb structures Ineffective erythropoiesis Excessive RBCs Destruction Iron Overload Extra-medullary hematopoiesis Increased HbF expression

  10. Signs & 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.

  11. Laboratory 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 increases • Decrease Osmotic Fragility • Haemoglobinelectrophoresis

  12. Other Special Procedures Globin Chain Testing - determines ratio of globin chains being produced. DNA Analysis - Determine specific defect at molecular DNA level.

  13. Course and treatment of thalassaemia If Untreated •  thalassemia Major : Death in first or second decade of life • Intermedia: variable life span • Minor/Minima: Normal life span

  14. Treatment for β Thalassemia • Trait – no treatment required • Intermedia • Major (Cooley anemia) • Regular folate supplementation • RBC transfusion (Splenectomy may decrease need for transfusions) • to maintain [Hgb] ~9-10g/dL • Blood transfusions  iron accumulation  iron overload • Iron chelators (diferroxamin)

  15. Suggestions for encountering the disease in a more efficient way Raising awareness for more frequent blood donations, since patients with β-thalasseamia require frequent transfusions 8th of May: Thalassemia awareness day.

  16. References http://www.mayoclinic.com/health/thalassemia/DS00905/DSECTION=treatments%2Dand%2Ddrugs http://www.nlm.nih.gov/medlineplus/ency/article/000587.htm http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/hematology/thalbeta.html http://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia/

More Related