1
Q
What is the structure of fetal haemoglobin and how does it differ from adult haemoglobin?
A
Two alpha and two gamma subunits rather than two alpha, two beta
Greater affinity for oxygen
2
Q
When does HbF get replaced by HbA?
A
- From 32 to 36 weeks HbF production starts to decrease and HbA starts to increase
- At birth around half of each
- By 6 months all of HbF is gone
3
Q
What is the relevance of HbF and sickle-cell disease?
A
HbF does not contain beta subunit which is the issue in sickle cell so disease not present/as severe at birth
Can give hydroxycarbamide to increase production of HbF, has a protective effect against sickle cell crisis
4
Q
What Hb level is anaemia in children?
A
Varies depending on age but usually Hb<120
5
Q
What is the most common cause of anaemia in infants and what is the pathophysiology of this?
A
Physiologic Anaemia of Infancy
Dip in Hb around 6-9 weeks because there is high oxygen delivery to tissues at birth causing a negative feedback so EPO production by kidneys is suppressed so less Hb made by bone marrow
6
Q
What are some other causes of anaemia in infants?
A
- Anaemia of prematurity
- Blood loss
- Haemolysis
- Twin to twin transfusion
7
Q
Why are premature babies more susceptible to anaemia?
A
Blood tests by doctors remove a large portion of their volume!
- Less time in utero receiving iron from mother
- Red cell creation cannot keep up with rapid growth in first few weeks
- Reduced EPO levels
The more premature the infant the more likely they are to need transfusion for treatment
8
Q
What are some haemolytic anaemias in infants?
A
- Haemolytic disease of the new born (ABO or Rh Incompatibilty)
- G6PD deficiency
- Sickle Cell
- Hereditary Spherocytosis
9
Q
What test can be done to confirm immune haemolytic anaemia?
A
Direct Coombs Test
plus a haemolytic screen
10
Q
What are some causes of anaemia in older children, highlighting the most common ones?
A
- Iron deficiency anaemia due to dietary insufficiency or roundworms
- Blood loss usually due to menstruation
- Sickle cell
- Thalassaemia
- Leukaemia
- Hereditary eliptocytosis
- Sideroblastic anaemia
11
Q
What are cause of microcytic anaemia? (MCV<70)
A
- Thalassemia
- Anaemia of chronic disease
- Iron Deficiency
- Lead poisoning
- Sideroblastic
12
Q
What are causes of normocytic anaemia?
A
3 A’s, 2 H’s
- Acute blood loss
- Anaemia of Chronic Disease
- Aplastic Anaemia
- Haemolytic
- Hypothyroidism
13
Q
What are some causes of macrocytic anaemia? (MCV>100)
A
Megaloblastic
- B12 Deficiency
- Folate Deficiency
Normoblastic
- Alcohol
- Reticulocytosis (from haemolytic anaemia or blood loss)
- Hypothyroidism
- Liver disease
- Azathioprine
14
Q
What are some symptoms of anaemia?
A
- Tired
- SOB
- Dizzy
- Palpitations
- Pica and Hair loss for Iron deficiency
15
Q
What are some signs of anaemia?
A
- Pale skin
- Conjunctival pallor
- Tachycardia
- Raised respiratory rate
16
Q
What investigations need to be done for anaemia in children?
A
- FBC (for Hb and MCV)
- ESR/CRP (for chronic disease)
- Blood film
- Reticulocyte count
- Ferritin (low in iron deficiency)
- B12 and Folate
- Bilirubin (raised in haemolysis)
- Direct Coombs Test
- Haemoglobin electrophoresis
17
Q
Why do PPIs cause anaemia?
A
Need stomach acid to keep iron in soluble ferrous form (Fe2+)
When less acid in stomach like in PPIs gets converted to ferric (Fe3+) which is insoluble in duodenum and jejunum
18
Q
What blood tests are done for iron deficiency?
A
- Serum iron not accurate as changes throughout day and after protein meal
- TIBC is the total space on transferrin for molecules to bind so TIBC is directly related to amount of transferrin. Both TIBC and transferrin increase in iron deficiency
19
Q
What is transferrin saturation and what does it tell us?
A
Transferrin Saturation = Serum Iron/TIBC
Tells us total iron in body, usually around 30% however if less iron in body less is saturation
Fasting sample is best as can increase shortly after each meal rich in iron
20
Q
Why can ferritin be normal in iron deficiency anaemia?
A
Ferritin is the stored version of iron
May not be able to get out of the cell!
21
Q
What is the management of iron deficiency anaemia in children?
A
- Supplementation with ferrous sulphate or ferrous fumerate. Warn can cause constipation and black stools. Aim for rise of 10 each month
- Ensure adequate Vitamin C and Iron intake. Use fortified milk
- Check for hookworms
- Check for coeliac’s
- Blood transfusions but rare because children can tolerate low Hb levels
22
Q
How can you spot haemolytic anaemia?
A
- Evidence of RBC production? (Polychromasia, reticulocytosis.)
- Decreased RBC survival? (Bilirubin raised)
- Intravascular haemolysis? (Haemoglobinuria)
- +ve Coombs’ test?
23
Q
How does hereditary spherocytosis present?
A
- Jaundice
- Anaemia
- Gallstones
- Splenomegaly
Aplastic crisis: increased anaemia, haemolysis and jaundice, without the normal response from the bone marrow of creating new red blood cells. No reticulocyte response. This is often triggered by infection with parvovirus.
24
Q
How is haemolytic anaemia caused by hereditary spherocytosis diagnosed and managed?
A
Ix
- Flow cytometric analysis of eosin-5-maleimide (EMA) binding to red cells
- Blood film and Reticulocyte count
Mx
- Folate supplement
- Splenectomy leads to increased RBC survival
- Cholecystectomy for gallstones
25
What is G6PD deficiency and the pathophysiology behind the presentation of this disease?
* ***X linked recessive*** (usually affects males)
* ***Haemolytic crises*** that are triggered by ***infections***, ***medications*** or ***fava beans*** (broad beans)
* ***G6PD enzyme*** is responsible for helping protect cells from damage by ***reactive oxygen species*** (***ROS***). A deficiency in G6PD makes RBCs more vulnerable to ROS, leading to ***haemolysis*** in red blood cells. Periods of increased stress, with a higher production of ROS, can lead to ***acute haemolytic anaemia***
26
How is G6PD deficiency diagnosed and managed?
**_Ix_**
* **Blood film:** Heinz Bodies (inclusions of denatured bodies)
* **G6PD enzyme assay**
**_Mx_**
* **Avoid triggers**, e.g broad beans, antimalarials, and this will stop jaundice and other symptoms
27
What is the pathophysiology of Thalassemia?
(image important for chromosomes)
**Autosomal recessive**
## Footnote
Defect in the protein chains that make up haemoglobin, can be ***alpha*** or ***beta***
FBC are more fragile and break down more easily so ***splenomegaly***.
***Bone marrow*** ***expands*** to produce extra ***red blood cells*** to compensate for the chronic anaemia. This causes ***susceptibility to fractures*** and ***pronounced forehead*** and ***cheekbones***
28
What are some signs and symptoms of thalassemia?
* Microcytic anaemia
* Fatigue
* Pallor
* Jaundice
* Gallstones
* Splenomegaly
* **Poor growth and development**
* Pronounced forehead and malar eminences
29
How is Thalassemia diagnosed?
* **FBC:** microcytic anaemia.
* **Haemoglobin electrophoresis**
* **DNA testing** to look for the genetic abnormality
Pregnant women offered a screening test for thalassaemia at booking
30
Why do children with Thalassemia develop iron overload and how does this present?
Due to ***recurrent transfusion***s and ***increased absorption of iron in the gu***t in response to anaemia
* Fatigue
* Liver cirrhosis
* Infertility
* Impotence
* Heart failure
* Arthritis
* Diabetes
* Osteoporosis and joint pain
31
How is iron overload managed in thalassemia?
* ***Serum ferritin*** monitored to check for iron overload
* ***Limit transfusions***
* ***Iron chelation with Desferroxamine***
32
What chromosome is the gene that codes for the faulty protein in alpha-thalassemia on and how is this managed?
Chromosome 16
* **Monitor FBC**
* **Monitoring** for complications
* **Blood transfusions**
* **Splenectomy**
* ***Bone marrow transplant*** can be curative
33
What chromosome is the gene that codes for the faulty protein in beta-thalassemia on?
**Chromosome 11**
Gene defect can either consist of ***abnormal copies*** that retain some function or ***deletion genes*** where there is no function in the beta globin protein at all
* ***Thalassaemia minor***
* ***Thalassaemia intermedia***
* ***Thalassaemia major***
34
How is beta thalassemia minor and thalassemia intermedia managed?
**_Thalassaemia Minor_**
* **One abnormal** and **one normal** gene
* Mild **microcytic anaemia**
* Only require monitoring and no active treatment
**_Thalassaemia Intermedia_**
* Two abnormal copies of the beta globin gene. **Two defective** genes or **one defective** gene and **one deletion** gene
* **Monitoring** and occasional **blood transfusions**
* **iron chelation** if more blood transfusions needed
35
What are some signs and how is beta-thalassemia major managed?
***Homozygous*** for the ***deletion*** genes, no functioning beta globin genes at all
* Severe microcytic anaemia
* Splenomegaly
* Bone deformities
* Failure to thrive
Management involves ***regular transfusions***, ***iron chelation*** and ***splenectomy***. ***Bone marrow transplant*** can potentially be curative
36
What is the epidemiology of sickle cell disease?
***NHS sickle cell and thalassaemia (SCT) screening programme*** found the incidence of sickle cell disease is 1 in 2,449 in the UK with a carrier risk of 1 in 89
Usually people of Western African origin
Having HbS provides immunity against Plasmodium Falciparum
37
What is the pathophysiology of sickle cell disease?
**Autosomal Recessive** affecting **beta globin gene**
HbS allele due to substitution from **GAG** to **GTG** causing **glutamic acid** to be substituted with **valine**.
Cam one HbS allele and a different faulty beta globin allele other than HbS (HbSβ-thalassaemia)
HbS prone to ‘**sickling’.**. In the **deoxygenated** **state** the HbS tetramers bind to each other and begin to polymerise, which distort the shape of the red blood cell. These sickle cells prone to haemolysis and can cause vast-occlusion
38
What are some signs and symptoms of sickle cell anaemia?
**_History_**
* **Acute pain symptoms from vaso-occlusion** – hallmark of sickle cell disease. May be precipitated by hypoxia, infection, strenuous exercise, dehydration. Usually ***back, legs, knees, arms, chest and abdomen***
* **Dactylitis** – painful inflammation of a digit (finger or toe)
* **Family** **history**
**_Examination_**
* **Pallor**, lethargy due to anaemia
* **Jaundice** due to haemolysis
* **Fever**
* **Tachycardia,** tachypnoea
* **Digital redness**, swelling and pain
* **Splenomegaly**
39
What are the complications of sickle cell anaemia?
(both acute and chronic)
* ***Anaemia***
* ***Increased risk of infection***
* ***Stroke***
* ***Avascular necrosis*** consider if vasoocclusive crisis lasting more than 7/7
* ***Pulmonary hypertension***
* ***Priapism***
* ***Chronic kidney disease***
* ***Sickle cell crises***
* ***Acute chest syndrome***
* ***Retinopathy***
40
What investigations are done to diagnose sickle cell disease?
**_Blood Tests_**
* All pregnant women are offered **antenatal screening**
* **Newborn Heel Prick Test**
* **Haemoglobin** **electrophoresis**
* **Blood** **film** Howell-Jolly bodies, sickle-shaped red blood cells
* **FBC and reticulocyte count**
* **Iron studies**
**_Imaging_**
* **X-ray of long bones:** look for bone infarctions
* **Chest X-ray:** infiltrates may indicate acute chest syndrome
41
How is sickle cell disease managed in general?
* ***Avoid dehydration and other triggers*** of crises
* ***Ensure vaccines*** are up to date
* ***Antibiotic prophylaxis*** usually with ***penicillin V*** (***phenoxymethypenicillin***)
* ***Hydroxycarbamide*** to protect against crises and acute chest syndrome as this stimulates HbF which doesn't sickle
* ***Folate supplementation***
* ***Blood transfusion*** for severe anaemia to keep HbS\<30%
* ***Bone marrow transplant*** can be curative
* ***Education on*** ***prevention***, for example avoiding excessive alcohol consumption or strenuous exercise,
42
What are some examples of sickle cell crises and some triggers for this?
* **Vaso-occlusive Crisis (AKA painful crisis):** priapism
* **Splenic Sequestration**
* **Aplastic**
* **Acute Chest syndrome**
43
How are sickle cell crises managed in general terms?
(image is important)
SUPPORTIVELY
* **Pain relief every 30 minutes**
* **Refer to haematology**
* Treat any infection
* Keep warm
* Keep well hydrated (IV fluids may be required)
44
What investigations are done for all sickle cell crises?
* **FBC reticulocyte count**
* **Group and save**
* **Biochemistry**: LDH, U&Es, LFTs, Bone
* **Septic screen**: blood cultures (if fever), chest x-ray, MSU
* **Bone x-rays**: rarely needed, for suspected osteomyelitis
45
How are vasoocclusive crises managed?
Due to sickle cells blocking capillaries and causing distal ischaemia
* **Analgesia:** review regularly
* Oxygen
* IV fluids
* Antibiotics if infection
* **Aspiration if priapism**
46
How is splenic sequestration managed as a sickle cell crisis?
* Sickle cells block blood flow in spleen so becomes painful and enlarged
* Pooling of blood can cause **severe anaemia** and **hypovolaemic shock**
* Do **FBC** and **urgent cross match**
* **Blood transfusions** and **Fluid resuscitation**
* Splenectomy **if recurrent crises**
47
What is an aplastic crisis in sickle cell and how is it managed?
* Temporary loss of the creation of new blood cells
* Triggered by **Parvovirus B19** so do **Parvovirus PCR**
* Do **FBC** and **crossmatch**
* **Blood transfusions and resolves within a week**
48
How is acute chest syndrome diagnosed and managed?
Usually have fever, chest pain, wheezing, hyperaemia, cough, respiratory distress
**_Ix_**
* **CXR:** pulmonary infiltrates
* **ABG**
* **Infection screen**
* **FBC, G+S, CRP, U+Es**
**_Management (Medical Emergency)_**
* **Antibiotics** or **antivirals** for infections
* **Blood transfusions via Red Cell exchange** urgently
* **Incentive spirometry** encourages effective deep breathing to prevent atelectasis
* **Artificial ventilation** with NIV or intubation may be required
49
What vaccines are given to patients with sickle cell, how often and why?
Spleen damage by auto-infarction can increased susceptibility to infections
* **Seasonal influenza vaccines** – yearly
* **Pneumococcal vaccines** – every 5 years
* **Hepatitis B vaccine** – if receiving regular blood transfusions
* **Men C and HiB**
Also given **prophylactic penicillin V**
50
What is the prognosis with sickle cell disease?
* Life expectancy of 58
* Poor prognosis if high frequency of recurrent vaso-occlusive crises
* **Infection** (sepsis, meningitis and pneumonia) and **stroke** are commonest causes of death in children
* **Acute chest syndrome** commonest cause of death in adults
51
What are some causes of hyposplenism?
* **Splenectomy**
* **Autosplenism** e.g sickle cell or coeliac's
(learn image)
52
What are some investigations to diagnose hyposplenism?
* **Blood film**: Howell-Jolly bodies and target cells
* **Imaging:** ultrasound, CT, and MRI
53
How long should someone who is asplenic be on prophylactic antibiotics?
At least 2 years after surgery
Lifelong if high risk (children)
54
What education do you need to give to parents/children who are hyposplenic?
* Need to carry **splenectomy card**
* **Must contact GP if become unwel**l or go to A and E if deteriorate
* **Must keep up to date with vaccines** and have annual flu jab
* **Must have chemoprophylaxis in malaria** areas
* **Risks with mosquito and animal bites**
55
What supplementation do all haemolytic anaemias need?
Folate!
56
What is the main indication for hydroxycarbamide in sickle cell?
Increases the level of fetal haemoglobin so less sickling
57
What monoclonal antibody is used in sickle cell anaemia and what is it used to treat?
**Crizanlizumab**
Prevention of vaso-occlusive crises
IV infusion
58
How are children with sickle cell disease screened for their stroke risk and if high risk how is this managed?
* **Transcranial Doppler US annually** from **age 2-16** to determine risk
* If high risk give **regular blood transfusion to decrease amount of HbS**
* Children who develop strokes can be offered **exchange transfusion programme as part of secondary prevention**
59
What is the only ‘curative’ treatment for sickle cell?
**Bone Marrow Transplant**
60
What is DIC and how may it present in a child?
Activation of coagulation pathways, resulting in formation of intravascular thrombi and depletion of platelets and coagulation factors
* Septic signs
* Petechiae
* Venepuncture oozings
* GI bleeding
* Haematuria
61
What are some causes of DIC in children?
62
What investigations should you do to diagnose DIC and what will they show?
* **Platelet count:** low
* **INR:** raised
* **Fibrinogen**: low
* **PT**: raised
* **D-Dimer**: raised
63
How is DIC managed in children?
* **Refer to haematology**
* **Treat cause** e.g NEC, Sepsis
* Give Vit K
* Platelet transfusion
* Fresh plasma (FFP) and cryoprecipitate
* Heparin or Protein C depending on if thrombotic or fibrinolytic
**•** If bleeding still continues, consider exchange transfusion.
64
What is idiopathic thrombocytopenia purpura and how does it present?
Type 2 hypersensitivity reaction where antibodies are made against platelets. Often triggered by viral illness
* **Non blanching rash** (purpura) over 24-48h
* **Bleeding** (gums, epistaxis, menorraghia)
* **Bruising**
* **History of viral illness**
* **Under 10**
65
What investigations need to be done for ITP diagnosis?
IT IS A DIAGNOSIS OF EXCLUSION
* **FBC/blood film for platelet count** – thrombocytopenia should ONLY abnormality
* **Coagulation screen –** normal
* **Bone marrow examination**
Need to rule of meningitis, heparin induced thrombocytopenia and leukaemia
66
What is the prognosis of ITP?
* 75% resolve spontaneously within three months
* 5‐15% becomes persistent or chronic (lasting \> 12 months), especially if over 10
* Intracranial haemorrhage is a rare but serious consequence
67
What is some general advice to give to a parent/child with mild ITP?
Safe to live with petechiae and low platelet count
* **Avoid contact sports** with high risk of head injury and trauma
* **Helmets** for scooters and bikes
* **Avoid IM injections** and lumbar punctures
* **Avoid NSAIDs**, aspirin and blood thinning medications
* **Advice on managing nosebleeds**
* **OCP** for menstruating girls
* **Seek help after any injury** that may cause internal bleeding e.g car accident
68
What are the complications of ITP?
* Chronic ITP
* Anaemia
* Intracranial and subarachnoid haemorrhage
* Gastrointestinal bleeding
69
When does ITP need treatment?
* **Actively bleeding:** GI, epistaxis, SAH
or
* **Severe thrombocytopenia:** platelets below 10, monitor FBC weekly until over 10 then monthly
70
What is the treatment for acute ITP?
* ***Prednisolone***
* ***IVIG*** if life threatening bleeding
* ***Blood transfusions*** if required
* ***Platelet transfusions*** only work temporarily because antibodies against platelets will begin destroying the transfused platelets
71
When does ITP not need to be treated?
* No active bleeding
* Controlled epistaxis (stops in \<20mins with gentle pressure)
* Bruising
* Petechiae
72
In anaemia what is the direct coombs test for?
To work out if haemolytic is due to immune mediated or non-immune mediated reaction
73
What are some causes of haemolytic anaemia in children?
74
What are the causes of megaloblastic anaemia in children?
75
76
What are causes of the following on a blood film:
* Target cells
* Anisocytosis
* Howell-Jolly Bodies
**Target cells:** post-splenectomy, haemoglobinopathy, severe iron deficiency
**Anisocytosis:** iron deficiency anaemia, beta-thalassaemia, megaloblastic anaemia
**Howell-Jolly bodies:** Beta-thalassaemia, megaloblastic anaemia, post-splenectomy
77
What are some causes of the following on blood films:
* Poikilocytosis
* Heinz bodies
* Spherocytes
* Basophillic stippling
**Poikilocytosis:** Beta-thalassaemia, severe iron deficiency
**Heinz bodies:** Red cell enzyme defects (G6PD deficiency)
**Spherocytes:** Hereditary spherocytosis, immune haemolytic anaemia, severe burns, posttransfusion
**Basophilic stippling:** Lead poisoning, beta-thalassaemia
Y4 Paediatrics
flashcards
Decks in class (32)
# Cards
-
1 - History Taking and Communications with the Child32
-
2 - Examination and Practical Procedures52
-
3 - Genetics62
-
4 - Neonatology89
-
5 - Surveillance and Development61
-
6 - Community Paediatrics 177
-
7 - Safeguarding33
-
8 - Respiratory 172
-
9 - Respiratory 288
-
10 - Cardiology83
-
11 - ENT76
-
12 - Endocrinology76
-
13 - Puberty57
-
14 - Allergy and Immunology73
-
15 - Dermatology64
-
16 - Nephrology90
-
17 - Haematology77
-
18 - Oncology52
-
19 - Orthopaedics67
-
20 - Rheumatology45
-
21 - Neurology 155
-
22- Neurology 250
-
23 - Gastroenterology75
-
24 - Paediatric Surgery68
-
25 - Paediatric Surgery 251
-
26 - Infectious Diseases 182
-
27 - Infectious Diseases 279
-
28 - Recognition and Management of the Sick Child18
-
29 - Emergency Paediatrics 174
-
30 - Emergency Paediatrics 261
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31 - Prescribing for Children29
-
32 - Vaccine Schedule12
