Haem path + obstrectics

Question 1

what is the difference in haemoglobinopathy testing in antenatal vs postnatal

Answer 1

a - FBC, reproductive choice

p - at 5 days, heel prick test - early detection of blood pathologies

Question 2

what are 4 potential haematological changes that occur during pregnancy

Answer 2

phsyiolgial macrocytic anaemia

lecucocytosis

gestational thrombocytonpenia

coagulation

Question 3

what is physiological macrocytic anaemia in pregnancy

Answer 3

plasma volume expands and RBC mass increases and MCV increased

Question 4

what is leucocytosis

Answer 4

mainly neutrophilia
levels rise after 2nd month
left shift - spilling out of cells than normally live in bone

Question 5

what is gestational thrombocytopenia

Answer 5

low platelet count after 20 weeks and thrombocytopenia in late pregnancy

Question 6

how does increased coagulation occur in pregnancy

Answer 6

increase in plasma fibrinogen and factors VII, V, VIII, vWF, X, XII
evidence of platelet activation

Question 7

where do the chains of immunoglobulins come from

Answer 7

alpha from chromosome 16

gamma, delta, beta from chromosome 11

Question 8

describe the development of Hb and how long ti takes

Answer 8

from yolk sac to liver/spleen to bone marrow

takes about 6 months

Question 9

what are haemoglobulinopathies and what inheritance pattern does it follow

Answer 9

changes in globin genes or expression

AR inheritence

Question 10

give four examples of haemoglobinopathies

Answer 10

sickle cell
A thalassaemia
B thalassaemia
thalassaemia intermedia

Question 11

what the difference between adult and foetal Hb

Answer 11

adult - 95% AHb, 3.5% BHb, 1% gamma

Question 12

what is sickle cell disease

Answer 12

substitutions of valine for glutamic acid in position 6 in the beta globes chain = aggregation and polymerisation at low oxygen tensions

Question 13

what are the two types of sickle cell disease

Answer 13

heterozygous (HbA/HbS)

homozygous (HbS/HbS)

Question 14

describe heterzygous sickle cell disease and the severity

Answer 14

45% HbS, 55% HbA
no problems unless extreme hypoxia
milder phenotype

Question 15

describe homozygous sickle cell and the severity

Answer 15

HbS/HbS
chronic haemolytic anaemia 
95% HbS
HbS polymerases to form long fibrils which distort the RBC membrane - gets stuck in vessels = ischameia and pain = sickle cell crisis 
clot formation

Question 16

what are the acute vs chronic problems associated with sickle cell disease

Answer 16

a - vaso-occlusive crisis, septicaemia , jaundice

c - hyposplenism, renal disease, avascular necrosis

Question 17

what is the treatment of sickle cell anaemia

Answer 17

hydration, analgesia, transfusion, hydroxycarbamide

Question 18

what is the most common single gene disorder

Answer 18

thalassaemia

Question 19

what is thalassaemia

Answer 19

rate of global chains produced, causes ineffective erythropoeisis and anaemia

Question 20

describe alpha vs beta thalassaemia

Answer 20

4 genes for alpha chains
1 or 2 deleted = alpha thalassaemia
3 deleted = HbH disease
4 deleted = hydros fetalis

beta chain = 2 genes

Question 21

what is hydros fetalis

Answer 21

deletion of all 4 alpha chain Hb genes = HF due to severe anaemia

Question 22

what is HbH disease

Answer 22

a thalassaemia where there is reduced alpha global formation 3 genes deleted

Question 23

what does B thalassaemia resemble

Answer 23

iron deficiency

Question 24

if you’re born with major b thalassemia with both beta genes deleted what is the likely prognosis

Answer 24

die of HF or infection in first few years

Question 25

how do you diagnose b thalassaemia

Answer 25

lots of nucleated red cells

Question 26

what is the pathogenesis of b thalasaemia

Answer 26

anaemia = increased marrow activity = enlarged and overactive spleen
hair on end skull

Question 27

where would you see hair on end skull formation

Answer 27

b thalassaemia

Question 28

how do you treat b thalassaemia

Answer 28

transfusion - suppress marrow RBC but can cause excess iron toxicity

Question 29

what is thalassaemia intermedia

Answer 29

miild form of the conditions

RBC breakdown and leads to pulmonary hypertension

Question 30

what are the main differences between sickle cell and thalassaemia

Answer 30

s - abnormal Hb produced at normal rate

t - normal Hb produced at abnormal rate