thalassaemias Flashcards
alpha thalassaemia trait
one or two genes missing, either asymptomatic carrier or microcytic hypochromic red cells but ferritin normal
sickle cell trait (HbAS) carrier
one normal beta gene one abnormal
why can you get splenomegaly with thalassaemia
the RBC are more fragile and break down more easily > the spleen collects all the destroyed RBC and swells
why can you get pronounced forehead and malar eminences in thalassaemia
the bone marrow expands to produce extra red blood cells to compensate for the chronic anaemia
signs and symptoms of thalassaemia
low MCV
fatigue
pallor
jaundice
gallstones
splenomegaly
poor growth and development
pronounced forehead and malar eminences
diagnosing thalassaemia
FBC: microcytic anaemia
haemoglobin electrophoresis: globin abnormalities
DNA testing: look for genetic abnormality
why can iron overload occur in thalassaemia
result of faulty creating of red blood cells, recurrent transfusions and increased absorption of iron in response to the anaemia
presentation of iron overload
fatigue
liver cirrhosis
infertility and impotence
heart failure
arthritis
diabetes
osteoporosis and joint pain
what chromosome can cause alpha thalassaemia
chromosome 16
management of alpha thalassaemia
monitoring the FBC, and for complications
blood transfusions
splenectomy may be performed
bone marrow transplant
what chromosome can cause beta thalassaemia
chromosome 11
management of beta thalassaemia
transfusion
iron chelation
splenectomy
