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Red Cells and Congenital Anaemia Flashcards

1
Q

What is anaemia and Sx

A

The reduction in red cells or their haemoglobin content

Sx 
Pallor
Fatigue
SOB
Chest pain
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2
Q

What can cause anaemia

A

Blood loss
Increased destruction of red cells
Lack of production or defective production

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3
Q

What substances are required for definite red cell production

A

Iron
B12
Folic acid
Erythropoeitin

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4
Q

What are substances are needed for red cell production

A 
Copper
Cobalt 
Manganese
Thiamine
Vit B,C,E 
A 
GM-CSF
Androgens 
Thyroxine
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5
Q

Where are red cells broken down

A

In the reticuloendothelial system extravacular
Can be done intravascular if damaged
Spleen = majority
Liver / LN / lungs

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6
Q

What are red cells (haem + globe) broken down into

A

Globin -> AA
Haem -> bilirubin (bound to albumin in plasma)
Iron is reutilised and binds to transferrin
Stored as ferritin in the liver

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7
Q

Is bilirubin conjugated or unconjugated

A

Unconjugated as not passed through liver

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8
Q

What are congenital causes of anaemia

A 
Defects in 
Red cell membrane 
Metabolic enzymes and pathways
Haemoglobin production (haemoglobinopathy) 
Leads to haemolysis
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9
Q

What pathways are involved in RBC formation and what enzymes are affected

A

Glycolysis to produce energy
Pentose phosphate shunt to prevent oxidative damage
G-6PD enzyme + pyruvate kinase

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10
Q

What diseases are associated with red cell membrane issues

A

Hereditary spherocytosis
Hereditary elliptocysos
Heriditary pyropoikilocytosis

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11
Q

What is hereditary spherocytosis

A

Autosomal dominant defects in structural proteins so removed faster by the spleen

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12
Q

What proteins are affected

A

Ankyrin / Band 3

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13
Q

What is the presentation of hereditary spherocytosis

What would cause abdominal pain

A

Variable
FTT
Anaemia
Jaundice + pigment gallstones due to increased bilirubin
- Can present with abdominal pain due to gall stone / splenic rupture
Splenomegaly
Chronic Sx but can have crisis e.g. in infection / parvovirus
If aplastic crisis = no increase in reticulocyte count

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14
Q

How do you Dx

A

Typical Hx, FH + spherocytes on film = Dx
Osmotic fragilited= +Ve
Raised unconjugated bilirubin
Reticulocytes + blurbing will be high
Electrophoresis / EMA binding test if atypical

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15
Q

How do you treat hereditary spherocytosis / follow up

A

Body compensates with lower Hb
Folic acid - higher requirement due to turnover
Transfusion if haemolysis increased in intercurrent illness
Splenectomy as main site of destruction

Follow up

  • FBC, SBR
  • Spleen size
  • USS gall bladder
  • general health
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16
Q

What does G6PD deficiency lead too

A

G6PD protects haemoglobin from oxidative damage so Increased oxidative damage
Protection against malaria

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17
Q

What type of inheritance of G6PD deficiency

A

X-linked

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18
Q

How do you diagnose G6PD

A

FBC
G6PD assay
Blood film - blister and bite cells / Heinz bodies

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19
Q

How does G6PD deficiency present

A

Intravascular haemolysis as structural damage in circulation
Anaemia
Jaundice + gallstones
Splenomehaly

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20
Q

Wha will intravascular haemolysis lead too

A

Haemoglobinuria which can damage kidneys

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21
Q

What are triggers to haemolysis in G6PD deficiency

A 
Infection
Acute illness e.g. DKA
Broad beans
Anti-malarial drug - check G6PD level 
Other drugs - sulphonamide / ciprofloxacin / trimethoprim / nitrofurantoin
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22
Q

What other enzyme deficiency is there and what does it cause

A

Pyruvate kinase
Leads to reduced ATP and increased 2,3-DPH
Anaemia / jaundice / gall stones

23
Q

What is haemoglobin made up of

A

Haemo = carries o2
Globin chains = determine type of Hb
2 alpha chains - 4 alpha genes so if mutation in one can still make good chain
2 beta chains - 2 beta genes so if mutation can’t make beta
Delta / gamma chains can take over if genes missing

24
Q

What does the haem in our blood look like

A

HbA (aaBB) = 97%
HbA2 (aaDD) = 2% - make if lose beta chains
HbF (aaYY) = <1% (high in fetal)
Should have NO sickle (aaSS)

25
What leads to haem binding more oxygen
Exercise Acidosis Hyperthermia Hypercapnia
26
What has highest affinity fro oxygen
HbF as need to take oxygen from mother's blood
27
What is the function of haemoglobin
Delivery 02 to tissue and co2 to the lungs
28
What are the haemoglobinopathies and how do you Dx
Autosomal RECESSIVE disorders of haemoglobin Absent or reduced chain production but normal structure - thalassaemia - Beta absent or reduced - Alpha absent or reduced Structutrally abnormal chains due to point mutation - sickle cell Dx = electrophoresis
29
What is sickle cell disease and what types can you get
Beta gene of HbA has sickle cell mutation leading to abnormal protein - HbS Homosygotes have sickle cell disease Heterozygoutes have trait (protective against malaria) which is why more common in Africa has selective advantage - asymptomatic unless at high altitude etc. Hb in blood - HbA = 0% - HbA2 = 2% - HbF = 20% - HbS = 8-90% Homozygous - HbSS - Inherited two abnormal copy of sickle - Classic sickle Compound heterozygous - HbSc - Inherited one abnormal sickle but also another mutated recessive - Less severe Combined thalassaemia - Inherited sickle gene (HbS) but also have beta-thalassaemia - Abnormal structure and reduced production
30
What happens in sickle cell
When deoxygenated fully / placed under stress, sickle cell RBC polymerises and forms aggregated and keep sickle shape Increased risk of haemolyis = haemolytic anaemia Broken parts of RBC can get stuck in vessel = occlusion RBC removed by spleen much faster - 20 instead of 120 Damage to blood vessel due to RBC breakdown and blockage
31
What is the sickle cell crisis
``` Endothelial activation Inflammation Coagulation acitvated Vasodilators - NO Vaso-occlusion / blockage of small blood vessel ```
32
Wha does sickle cell crisis cause and long term Major = vaso-occlusion + haemolytic
Vaso-occlusive painful crisis causing ishchaemia (pain / fever = main Sx) - Bone - AVN - Hand and feet if <3 = dactylitis - CNS - STROKE IN CHILDREN etc (can be ischaemic or haemorrhage due to damaged vessel) - Priaprism - Acute chest syndrome - Renal infarction Severe anaemia - normocytic normochromic - Jaundice / fatigue Severe infections Sequestrian - Sickling when spleen / lungs cause pooling of blood - Can lead to hypovolaemic shock / abdominal pain / splenomegaly but as get older more likely atrophy - Enlarged liver and spleen as blood pools Aplastic crisis - parovirus (Sudden fall in Hb) Haemolytic crisis (rare) Long term - Chronic multi-organ damage due to occlusion / damage - Chronic haemolytic normocytic anaemia - Splenic infarction and atrophy in early childhood so don't get splenomegaly - Increased risk of infection / sepsis - Growth - Chronic renal failure - Gall stones - Lung damage - Stroke due to damage - Retinopathy - Pulmonary hypertension due to microvascular damage
33
What does acute chest syndrome present with
``` Either due to infection or vase-occlusive crisis Pulmonary infiltrates on CXR Dyspnoea Low sats Fever Chest pain ```
34
What causes increased infection and what type
Hyposplenism Usually encapsulated organisms Salmonella = typical but rare in real life
35
What can precipitate crisis
``` Hypoxia Infection Dehydration Cold exposure Pregnancy can stress more Can be well in between ```
36
How do you Rx painful thrombotic crisis
``` ADMIT Analgesia - often use high strength Bloods - FBC + relic, U+E, LFT - X-match - Sepsis screen / culture ECG + CXR + ABG Fluid Oxygen to stop polymerisation process Consider Ax or try to treat precipitant ``` Blood transfusion if Hb or reticulocyte fall sharply - guided by haematologist Exchange transfusion if neuro complications
37
How do you Rx chest crisis
``` Resp support O2 Ax - macrolide and cephalosporin IV fluid Analgesia May need ventilation May need exchange transfusion ``` If someone comes in want to know - Sickle % and baseline Hb - Any recent complication / admission - Any disease modifying / exchange transfusion
38
What is given as life long prophylaxis
Vaccinations as hyposplenism Penicillin prophylaxis Pneumococcal vaccine 5 yearly Folic acid
39
How do you Dx sickle cell
Most Dx at new-born screen Hb electrophoresis - Indirct to look for sickled Hb Can do direct sequence of beta global gene to look for mutation
40
What is general management
Avoid trigger Ensure vaccines up to date Ax prophylaxis Blood transfusion Disease modifying drug - hydroxycarbamiade / hydroxyurea - increases HbF which cannot sickle as no BB and improve RBC life-space ALLOGRAFT bone marrow transplant can be indicated in young patient with specific complication e.g. stroke Gene therapy Have a low threshold for admission as hyposplenism can led to severe infections - Temp >38 - Child with mild to mod pain - Chest Sx
41
What is thalassaemia
Reduced or absent global chain production due to mutations or deletions in alpha or B genes Thalassaemia minor or trait if one or 2 chains missing Major if 3 or all chains missing Leads to chronic haemolytic and microcytic anaemia Hb in blood - HbA = 0% - HbA2 = 2% - HbF = 95%
42
What are 4 types of thalassaemia
Homozygous alpha zero if mutation in all 4 alpha gene Beta thalassaemia major (homozygous betA) if mutation in both beta genes Non transfusion depedent Beta thalassaemia trait / minor if mutation in one ``` Major = no chain produced Minor = reduced amount ```
43
How does homozygous alpha zero present
Hydrops fettles Incompatible with life as no alpha chains
44
What is Beta thalassaemia major
Absence of beta chain as not inherited Still have alpha which can joint with delta or gamma to make foetal haemoglobin Most severe
45
When do you become transfusion dependent / symptomatic
When fatal Hb drops and gamma exchanged for beta at around 4 months
46
How does it present
``` Microcytic anaemia with symptoms quite severe FTT Expansion of ineffective marrow to compensate for chronic anaemia leading to - Bone deformities - Fractures - Skull and facial bossing HSM as spleen deals with RBC's Jaundice Gall stones Can cause heart failure ```
47
How do you Dx
Screen in pregnancy FBC, MCV, film Film = target cell Reticulocyte = raised but not enough to be normocytic Hb electrophoresis - low HbA or HbF = DIAGNOSTIC Ferritin levels normal
48
How do you Rx
Monitor FBC / complications Chronic transfusion 4-6 weeks Splenectomy Bone marrow transplant = curative
49
What is risk of transfusion and how do you monitor
Iron overload - present like haemochromatosis Cause heart / liver / endocrine failure Monitor with ferritin levels
50
How do you Rx
Iron chelation - deferoxamine
51
What is beta thalassaemia minor / trait
Carrier state- AR Usually no symptoms Microcytic anaemia with mild Sx
52
What is seen on film
Hypochromic Microcytic
53
What are all congenital anaemia's
Haemolytic so increased reticulocyte count | Sickle cell RBC lifespan can be as small as 5 days
54
If have splenectomy what is needed
Flu and pneumococcal immunisation Penicillin Alert

Haematology (13 decks)

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