THALASSAEMIA Flashcards
What is Thalassaemia?
Autosomal recessive genetic disease of unbalanced Hb synthesis, with underproduction of no production of one glob in chain, leading to damaged RBC membrane in the marrow
What are the two types of Thalassaemia?
ALPHA: defect in Alpha-chain
BETA: defect of Beta-chain
What causes Thalassaemia?
BETA: point mutation in chromosome 11
ALPHA: gene deletion on Chromosome 16
What are the symptoms of Thalassaemia?
Poor growth and development
Pronounced forehead and malar eminences
Dark urine
Abdominal swelling
What are the signs of Thalassaemia?
Jaundice
Gallstones
Splenomegaly
What is the risk factors of Thalassaemia?
FHx
African Americans, Mediterranean and Southeast Asian descents
Which blood test would you do for Thalassaemia?
FBC: microcytic anaemia
MCV: low
LFT: high unconjugated bilirubin
What does the Blood film show for Thalassaemia?
Microcytic RBC
Target cells (A-Thalassaemia)
Tear drops
Poikilocytosis (varying size)
What does the Haemoglobin Electrophoresis show for Thalassaemia?
BETA MAJOR: no HbA, High HbF and HbA2
BETA MINOR: normal HbA, high HbF and HbA2
ALPHA MAJOR: low HbA and HbF, high HbA2
ALPHA MINOR: low HbA, normal HbF and HbA2
Which scans would you request in Thalassaemia?
SKULL XR: facial deformity and widen diploid space
ULTRASOUND: liver and spleen enlargement
How would you manage Thalassaemia?
Lifelong transfusion: keep Hb >90dL
Splenectomy: only if hypersplenism continues after transfusion
Bone Marrow Transplant: helps eliminate lifelong blood transfusion and drug control
What is iron overload?
Frequent blood transfusion or Thalassaemia can cause excess iron in the blood
What are the symptoms of iron overload?
Fatigue, liver cirrhosis, infertility, heart failure, arthritis, diabetes, osteoporosis and Joint pain
How is Iron Overload detected and treated?
Check Serum Ferritin
Treat with Iron-chelators - Oral Deferiprone or IM deforoxamine - removes iron from blood
