Paeds- Haematology Flashcards
(53 cards)
describe the haemologlobin levels required for a diagnosis of anaemia in:
- neonates
- 1 month-12 months
- 1 year- 12 years
Neonate: Hb <140g/L
1month-12months: Hb<100g/L
1year-12years: Hb<110g/L
what 3 things can cause anaemia?
- impaired red cell production
- increased red cell destruction (haemolysis)
- blood loss
causes of impaired red cell production
- red cell aplasia- parvovirus B19 infection, fanconi anaemia, aplastic anaemia
- ineffective erythropoiesis- iron deficiency, folic acid deficiency, chronic inflammation
causes of haemolysis
- hereditary spherocytosis
- G6PD deficiency
- thalassaemia, sickle cell
what can cause severe anaemia at birth?
haemolytic disease of the foetus (Rhesus disease)
what antibodies are present in Rhesus?
- anti-D
- anti-A/ anti B
- anti-Kell
how is Rhesus diagnosed?
positive direct anti-globulin test= Coombs test
how does haemolytic disease of the newborn present clinically?
- pallor
- hepatosplenomegaly
- oedema
- ascites
- petechiae
what is Fanconi anaemia?
- most common inherited form on aplastic anaemia
- autosomal recessive
- mutations in FANC genes
clinical presentation of fanconi anaemia
congenital abnormalities- short stature etc
bone marrow failure
causes of iron deficiency anaemia
- inadequate intake
- malabsorption
- blood loss
how is iron deficiency anaemia diagnosed?
microcytic, hypochromic, low-normal reticulocytes
low ferritin and serum iron
what is haemolysis?
increased red blood cell turnover
how does haemolytic anaemia present clinically?
- jaundice
- pallor
- neonatal ascites
- anaemia/ failure to thrive
- hepato/splenomegaly
- gall stones
- aplastic crisis
- thromboembolism
how is a patient with haemolytic anaemia investigated?
- raised reticulocyte count
- unconjugated bilirubinaemia and increased urinary urobillinogen
- coombs test
how is G6PD deficiency inherited?
x-linked recessive
how does G6PD deficiency present clinically?
neonatal jaundice
intermittent episodes of acute intravascular haemolysis
fever, malaise, dark urine, abdo pain
how is G6PD deficiency diagnosed?
- between episodes- normal blood picture !
- measure G6PD activity in red blood cells- measure during and after crisis
describe the inheritance pattern of hereditary spherocytosis
- autosomal dominant
- 25% of cases- no family history, caused by new mutation
what is hereditary spherocytosis?
genetic condition in which mutations occur in the genes coding for proteins of the red cell membrane
red cells lose part of membrane when passing through spleen= reduction in surface-to-volume ratio
leads to spheriodal cells
clinical features of hereditary spherocytosis
- jaundice (intermittent)
- anaemia
- splenomegaly
- aplastic crisis
- gallstones
can be asymptomatic
if a patient presented with suspected hereditary spherocytosis, what investigations would be done?
- blood film is diagnostic
- do coombs test to rule out autoimmune cause
how is hereditary spherocytosis managed?
- oral folic acid
- splenectomy if severe
- blood transfusions
- cholecystectomy
describe the mutation pattern of sickle cell anaemia
autosomal recessive inheritance on chromosome 11 of abnormal haemoglobin gene
HbS forms- due to point mutation of codon 6 in B globulin gene- changes glutamine to valine
