Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Haematology > Red cell disorders > Flashcards

Red cell disorders Flashcards

1
Q

what are RBCs made of?

A

Hb- made of globin and iron
enzymes
cell membrane

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Give examples of haemoglobinopathies

A

Sickle cell disease

thalasaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

give an exmaple of a disorder of quality of RBCs

A

sickle cell disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

give an example of a disorder of quantity in RBCs

A

thalassaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what are the foetal Hb chains?

A

2 alpha

2 gamma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

what is HbA?

A

normal adult haemaglobin - 2 alpha and 2 beta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

what is HbA2?

A

a variant of adult haemaglobin - 2 alpha and 2 delta chains

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

what is heme?

A

iron bound to a porphyrin ring

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

pts who have sickle cell disease can still get malaria true or false?

A

true

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what is combined heterozygosity?

A

when there is a mutation in one gene and a mutation in another gene but together this causes the full blown disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Give an example of combine heterozygosity when it comes to sickle cell disease

A

HbS and HbC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

people from which countries are affected by sickle cell anaemia?

A

Greece, Caribbean, south america, subsaharan africa, mediterranean, India

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the percentage change that two carrier parents will have a child with sickle cells disease?

A

25%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

what is the percentage change that two carrier parents will have a child with sickle trait?

A

50%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the complications of sickle cell disease?

A 
chronic haemolytic anaemia
infections 
painful crises 
splenic sequestration
acute chest syndrome 
stroke
aplastic crisis 
avascualr necrosis 
priapism
pulmonary arterial hypertension
sickle nephropathy 
ocular disease 
iron overload 
leg ulcers 
reduced life expectancy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Name 3 acute complications of sickle cells disease

A

painful crisis
acute chest syndrome
stroke

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Name 3 chronic complications of sickle cell disease

A

renal impairment
pulmonary hypertension
joint damage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Name three disease modifying treatments offered to people with sickle cell disease

A

transfusion
hydroxycarbamide
stem cell transplant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is thalassaemia?

A

Globin chain disorders resulting in diminished synthesis of one or more globin chains with consequent reduction in the haemoglobin

20
Q

People from which countries may be affected by thalasaemia?

A 
mediterranean including Turkey
italy
middle east
bangladesh and india
far east and thailand
sub-saharan africa 
Yemen
Syria and Iraq
21
Q

which group of thalassaemia pts are transfusion dependent?

A

thalassaemia major

22
Q

which group with thalassaemia are asymptomatic?

A

carriers

23
Q

what are the three groups of clinical classification of thalassaemia?

A

Thal. major
Thal. intermedia
Thal. carrier

24
Q

at what age does beta thalassaemia major present?

A

6-12 months

25
Q

what symptoms may a child with beta thalassaemia major present with?

A

failure to feed
restless
crying
pale

26
Q

What type of anaemia is thalassaemia?

A

microcytic

27
Q

What will the blood results show with someone with beta Thalassaemia Major?

A

low Hb
very low MCV
very low MCH (ie the average mass of Hb per RBC)
nucleated RBCs
irregular sized (ie large and small RBCs) that are very pale
normal ferritin

28
Q

how is thalassaemia major treated?

A 
Regular transfusion
Iron chelation
Endocrine supplementation
(fertility)
Bone health
Psychological support
29
Q

How is thalassaemia major monitored?

A

Ferritin
Cardiac and Liver MRI
Endocrine testing (Gonadal function, Diabetes screening, Growth & puberty, Vit D, Calcium, PTH, Thyroid)
Dexa scanning

30
Q

What are the complications of iron overload?

A 
hepatic fibrosis and cirrhosis 
cardiac arrhythmia
hypogonadism
diabetes 
hypothyroidism 
hypoparathyroidism 
cardiac failure 
death
31
Q

Describe the inheritance of alpha thalassaemia

A

inherit two copies from mother and two copies from father

need to inherit at least 3 faulty copies out of the 4 to get alpha thalassaemia

32
Q

Where are the distributions of alpha 0 thalassaemia confined to?

A

eastern mediterranean ie Greece

far east

33
Q

How are membranopathies inherited?

A

autosomal dominant

34
Q

name two membranopathies

A

Spherocytosis & elliptocytosis

35
Q

what is a membranopathy in RBCs?

A

Deficiency of red cell membrane proteins caused by a variety of genetic lesions

36
Q

what are the signs of a RBC membranopathy?

A

Neonatal jaundice
Mild to moderate haemolytic anaemia with occasional exacerbations during infection
Gallstones

37
Q

what an be used to treat membranopathies?

A

Folic acid and splenectomy in selected cases

38
Q

What happens in pts who have haemolytic anaemias and get infected with parvovirus?

A

slapped cheek syndrome
Leads to decreased RBC production
Dramatic Hb drop in patients who already have reduced red cell lifespan.

39
Q

what are the 2 most common enzymopathies of RBCs?

A

G6PD deficiency and pyruvate kinase deficiency

40
Q

what does enzymes normally do in RBCs?

A

provide fuel for the red cell

allows redox reactions to occur

41
Q

how do enzyme deficiencies damage red cells?

A

oxidative damage due to lack of redox ability

42
Q

Which communities are most likely to have G6PD?

A

African, Middle Eastern, Mediterranean, S. Asian

43
Q

how is G6PD inherited?

A

X-linked

but women can be affected by this condition due to lyonisation

44
Q

What are the symptoms/signs of a crisis from G6PD?

A

haemolysis, jaundice, anaemia.

45
Q

what are the drugs that can cause interactions with G6PD?

A 
Primaquine
Sulphonamides
Nitrofurantoin
Quinolones
Dapsone
46
Q

what is the most common inherited disease in england?

A

sickle cell disease

Haematology (9 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions