Haemolysis - Intrinsic - Enzymeo+Membrano-pathies

Question 1

? ? (PK) deficiency;

Autosomal ? condition, with reduced ATP production shortening the
RBC lifespan.
Homozygotes usually present with neonatal ?, and later chronic ? with ?.
Diagnosis is with an ? assay.
It is often well tolerated, so no specific therapy is needed, although ? may help.

Answer 1

pyruvate kinase
recessive
jaundice
jaundice
hepatosplenomegaly
enzyme
splenectomy

Question 2

Glucose-6-phosphate dehydrogenase (G6PD) deficiency;

? inheritance, more common in African and Mediterranean ?.
o Females will have ? symptoms.
Mostly asymptomatic, but susceptible to ? crises due to reduced glutathione production.
These attacks cause ? ? and ?, with ‘? cells’ and ‘? cells’ seen on the blood film.

Answer 2

x linked
males
mild
oxidative
rapid anaemia
jaundice
bite
blister

Question 3

G6PD

The attacks may be precipitated by drugs (?, primaquine, ?), broad ? consumption or ?.
Diagnosis is with an ? assay ? months after the initial crisis.
o Delay as ? RBCs may have enough enzyme, thus appear normal.
Treatment is ? avoidance, plus ? if severe.

Answer 3

aspirin
sulphonamides
bean
illness
enzyme
3
young
trigger
transfusion

Question 4

Hereditary Spherocytosis;

• Autosomal ? membrane defect, leading to ? RBCs.
  These are less deformable, thus can become ? in the ? leading to
  haemolysis, ? and ?.

Answer 4

dominant
spherical
trapped
spleen
jaundice
splenomegaly

Question 5

Hereditary Eliptocytosis;
- Autosomal ? defect, mostly asymptomatic.

Both (membranopathies) are treated with ?. ? is curative, but reserved for severe
disease.

Answer 5

dominant
folate
splenectomy