Haemolysis - Haemoglobinopathies (SCA)

Question 1

Haemoglobinopathies;

? & ? cell disease.
0 ? cell disease is due to synthesis of abnormal globin chains;
0 C.f. failure to synthesise normal chains in ?

Answer 1

thalassemia
sickle
sickle
thalassemia

Question 2

Sickle Cell Anaemia;

Autosomal ? disorder causing production of abnormal B-globulin chains, due to a single amino acid substitution (glu6val).
This results in the production of ? rather than HbA.
It is much more common in patients of ? origin.

Answer 2

recessive
HbS
african

Question 3

SCA
There are two genotypes:
o ?: Sickle-cell anaemia phenotype.
o ?: Sickle-cell trait.
• HbAS confers protection from falciparum ?.
• Rarely symptomatic, but ?-occlusive events may occur in ? (e.g. when flying, or under anaesthesia).

Answer 3

HBSS
HBAS
malaria
vaso
hypoxia

Question 4

Diagnosis;

Usually on the ‘?’ screening card.
Sickle cells can be seen on the ? ?.
Hb ? can confirm the diagnosis and also distinguish variants.

Answer 4

guthrie
blood film
electrophoresis

Question 5

Symptoms;

Often presents in the first few ? of life, with anaemia developing as Hb? levels fall, with acute haemolytic crises occurring causing ? infarcts and painful ? in the fingers/ toes.
Untreated there is repeated ? infarction leading to hypo?, repeated ? infarction causing ?, and ? accidents.

Answer 5

months
F
bone
dactylitis
splenic
hyposplenism
renal
CKD
cerebrovascular

Question 6

Sx

In adulthood, there is normally a ? haemolytic anaemia {60-90 g/L), but
this is well tolerated unless there is a ?.
Complications include ?, ?, ? necrosis, chronic leg ?, ? overload (if multiple transfusions) and long term ? damage.

Answer 6

chronic
crisis
CKD
hyposplenism
bone
ulcers
iron
pulmonary

Question 7

Chronic treatment;

Lifelong ? supplementation.
? ? and prophylactic ? due to hyposplenism.
? (hydroxyurea) can help by increasing HbF production, and
is advised if there are ? crises.

Answer 7

folate
pneumoc vacc
penicillin
hydroxycarbamide
frequent

Question 8

Chronic treatment

Regular life-long ? (2-4 weekly), with ? ? to prevent overload.
? ? transplantation is curative: but limited by availability of matched donors.

Answer 8

transfusions
iron chelators
BM

Question 9

Vaso-occlusive crises (aka ? crises);

Occur due to micro-vascular ?, often affecting the bone marrow
causing severe ?.
Can be precipitated by ?, ?, ? or ?.
Other presentations are ? ischaemia mimicking an acute abdomen,
? infarctions or ?.

Answer 9

painful
occlusion
pain
hypoxia, infection, dehydration, cold
mesenteric
cerebral 
priapism

Question 10

Aplastic crises;

Due to ? 819, causing a sudden ? in marrow production, particularly RBCs.
Usually self-limiting ( weeks), but ? may be required

(More rarely there can be haemolytic crises, where Hb falls due t o haemolysis).

Answer 10

parvovirus
reduction
2
transfusion

Question 11

Sequestration crises;

Mainly affects ? as spleen has not yet undergone atrophy.
There is ? of blood in the spleen +/- ?, with organomegaly, severe ? and ?.
Urgent ? are required.

Answer 11

children
pooling
liver
anaemia
shock 
transfusion

Question 12

Management of a sickle cell crisis;

A-E resuscitation, high flow ? and IV ?.
Strong ? within 30 minutes.
?, ?, ? blood.
Screen for signs of infection (?, ?, ?) & treat early.
Prophylactic ? should be given.
Give fully cross-matched blood transfusion if ? or ? fall sharply.
? ? if rapidly deteriorating

Answer 12

oxygen
fluids
analgesia
FBC, Spherocytes, x-match
MSU, CXR, Culture
enoxaparin
hb spherocytes
exchange transfusion