Congenital Haemolytic Anaemia

Question 1

Hereditary spherocytosis

Answer 1

inherited haemolytic anaemia

autosomal dominant
mutations lead to deficiency in membrane proteins

osmotic fragility test should be positive

Question 2

glucose 6 phosphate deficiency

Answer 2

inherited haemolytic anaemia

X linked disease

jaundice in response to a trigger
fava beans
sulfonimides
infections

bite cells and heinz bodies on smear

Question 3

Beta thalassemia

Answer 3

reduction in beta chain production

minor:
Only one of β globin alleles bears a mutation. Individuals will suffer from microcytic anemia. β+/β

Intermediate:
Affected individuals can often manage a normal life but may need occasional transfusions β+/β+ βo/β+

Major:
Occurs when both alleles have thalassemia mutations. This is a severe microcytic, hypochromic anemia. Untreated, it causes anemia, splenomegaly and severe bone deformities. It progresses to death before age 20.
βo/βo

transfusions
folic acid sup.
splenectomy
allogeneic stem cell transplant in severe cases

Question 4

Alpha thalassemia

Answer 4

reduction in alpha chain production

-/α α/α
silent

-/- α/α or -/α -/α
alpha thalasemia trait
mild microcytic hypochromic anemia is seen

-/- -/α
hemoglobin H disease
microcytic hypochromic anemia with target cells and Heinz bodies on the peripheral blood smear

Question 5

Heinz body

Answer 5

inclusions within red blood cells composed of denatured hemoglobin

seen in severe anemia

Question 6

Sickle cell disease

Answer 6

recessive disease
abnormal beta chain
leads to abnormal haemoglobin polymerization
sickle cells
haemolysis

painful veso-occlusive disease
acs
PE
hepatic crisis
priapism