Haemopoiesis and Haemolytic Anaemia Flashcards

(34 cards)

1
Q

Foetal haemoglobin

A

2 alpha and 2 gamma globin chains, should be less than 1% in adults, it is the main form before birth

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

HbA

A

2 alpha, 2 beta chains

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

HbA2

A

2 alpha, 2 delta

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

Definition of haemoglobinopathies

A

inherited disorders in haemoglobin, typically autosomal recessive

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

Thalassemia

A

Reduced or absent expression of normal globin chains

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

Sickle cell disease

A

Abnormal globin chain variants with altered function

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

a-Thalassemia

A

Humans have 4 a-globin genes, 2 on each chr16

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

1 deleted alpha globin gene

A

Silent carrier state, no symptoms, carrier of disease

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

2 a-globin deleted

A

a-Thalassemia trait, minimal or no anaemia, microcytosis and hypochromia in RBC

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

3 a-globin genes deleted

A

Haemoglobin H disease, moderately severe, microcytoc, hypochromic anaemia with target cells and Heinz bodies

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

4 a-globin genes deleted

A

Hydrops fetalis, severe, usually results in intrauterine death

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

Consequences of Thalassemia

A

Extramedullary haemopoiesis resulting in splenomegaly, hepatomegaly, impaired growth, iron overload

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

Thalassemia treatments

A
  • Red cell transfusion from childhood
  • Folic acid (supports erythropoiesis)
  • Stem cell transplant
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Sickle cell disease

A

Autosomal recessive resulting in mutation of beta globin gene

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

Why is sickle cell disease a problem?

A

In low oxygen state, irreversibly sickled cells that are less deformable can get stuck in small blood vessels

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Symptoms of sickle cell disease

A

Stroke, skin ulcers, acute chest syndrome

17
Q

Autoimmune haemolytic anaemias

A

Caused by autoantibodies binding to red cell membrane proteins, spleen recognises these as abnormal -> reduced life span of RBC

18
Q

Myeloproliferative neoplasms

A

Overproduction of one or several blood elements with dominance of a transformed clone

19
Q

Cause of myeloproliferative neoplasms

A

Point mutation in one copy of JAK2 gene

20
Q

JAK2 mutation

A

Normal activated my EPO on receptor of RBC surface, mutated is activated without EPO binding

21
Q

Polycythaemia

A

Increase in circulating RBC concentration, usually have raised haemotocrit

22
Q

Polycythaemia vera

A

Usually in older patients, bone marrow overproduction due to genetic mutation

23
Q

Clinical features of polycythaemia vera

A
  • arterial/venous thrombosis
  • splenomegaly
  • gout
24
Q

Secondary polycythaemia

A

Caused by increased levels of erythropoietin

25
Symptoms of secondary polycythaemia
Chronic lung disease, renal hypoxia, renal cell cancer
26
Cause of essential thrombocythaemia
Associated with JAK2 and CAL-R mutations
27
Clinical features of thrombocythaemia
Increased platelets in blood, increase in megakaryocytes, thrombotic events
28
Myelofibrosis
Genetic mutation in JAK2, excess of platelet derived growth factor, causes increased reticulin, heavily fibrotic bone marrow
29
Myelofibrosis clinical features
Massive splenomegaly or hepatomegaly, RBC look like tear drops in blood film
30
Primary myelofibrosis
Clonal baemopoietic stem cell proliferation, may be end result of polycythaemia vera or essential thrombocythaemia
31
Clinical features of primary myelofibrosis
Fatigue, sweats, weight loss, early satiety due to splenomegaly
32
Chronic myeloid leukaemia
High white cell count, splenomegaly, bone pain or hyperviscosity (sticky blood)
33
BCR:ABL1 fusion
Translocation of Abl gene on chr9 and Bcr on chr22 to make a Philadelphia chromosome that drives proliferation
34
Tyrosine kinase inhibitors
Used to treat myeloproliferative disorders