Thalassemia Flashcards
Define thalassemia
a group of genetic disorders characterised by reduced globin chain synthesis
what is the inheritance of thalassemia?
• Autosomal recessive
what are the types of thalassemia?
o ALPHA THALASSEMIA
o BETA THALASSEMIA
what are the types of a thalassemia?
• 4 gene deletion = Haemoglobin Barts Hydrops Fetalis (intrauterine death)
• 3 gene deletion = Haemoglobin H
hypochromic anaemia and splenomegaly
• 1 and 2 gene deletion means no anaemia
what are the types of beta thalassemia?
- Beta Thalassemia Major = microcytic anaemia
- Beta Thalassemia Trait = • ASYMPTOMATIC
- Mild microcytic anaemia
- Increased red cell count
epidemiology of thalassemia?
more common in MEDITERRANEAN and Middle-East
what are the presenting symptoms of beta thalassemia major?
o Presenting at 3-6 months
o Anaemia
• Failure to thrive
• Prone to infection
what are the presenting symptoms of beta thalassemia trait?
o May be ASYMPTOMATIC
signs of beta thalassemia major?
o Hepatosplenomegaly o Pallor o Malaise o Dyspnoea o Mild jaundice o Frontal bossing o Thalassaemia facies
what is the gold standard for beta thalassemia?
electrophoresis
what will the FBC show?
• Low Hb
• Low MCV
- Disproportionate microcytosis will suggest beta thalassemia trait
• Raised HbA2 (beta thalassemia trait)
what will be seen on the blood film?
o Hypochromic microcytic anaemia
o Target cells
o Nucleated red cells
o High reticulocyte count
