Haematology Flashcards by Rachel Longwell

What do multipotent stem cells differentiate into?

Myeloid and lymphoid progenators

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What do myeloid progenitor cells differentiate into

Megakaryocytes- platelets
Erythroblasts- retics- red cells
Myeloblasts- myeloblasts- neuts, basophils eosinophils and monocytes

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What do lymphoid progenator cells differentiate into?

Plasma cells
T cells
B cells

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Name the CD4 numbers for the following 
NK cells 
T helper cells 
T killer cells 
B cells

NK- CD56
T helper- CD 4
T killer- CD 8
B cells CD 19 and 20

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What are the three stages of haematopoiesis
When do neutrophils develop?

Can EPO cross the placenta?
How does red cell life span change over time

Mesoblastic- yolk sac
Hepatic- 2 to 24 weeks- liver
Myeloid

Myeloid stage
No
Increases over time

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What is the normal structure of HbA
What chromosomes are involved
What are the three types of embryonic hb? What Greek letters are present?
What makes up Hb F
What makes up Hba2? How much is normally found in adult blood?

2 alpha, 2 beta 4 haem groups containing iron

Alpha-16
Beta-11

Gower 1,2 and Portland- zeta alpha and epsillon
HbF 2 alpha 2 gamma
HbA2 2 alpha 2 delta
HbA to A2= 30:1

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What are the 5 subtypes of microcytic anaemia

Thalassaemia
Anaemia of chronic disease
Iron def
Lead poisoning 
Sideroblastic

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On a normal blood film, what do platelets and red cells look like

Red cells- discs with a pale centre

Platelets- smallest cells on the film

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When do iron stores run out?
Can it be synthesised by the body?
What is the most common cause of iron deficiency in toddlers?
What type of anaemia is seen?
What is seen on blood film?
What should be given along with iron? Why?
How long will it take to see a reticulocyte response?

5-6 months
No 
Excessive cows milk- poorly absorbed 
Hypochromic microcytic 
Ansiocytosis, rod cells and target cells 
Vitamin C- helps the absorption
3 days

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Alpha thalassaemia
Which chromosome is the defect?
What are the 4 possibilities and how will they present?
Is it a quantity or a quality problem?

1 allele missing- silent carrier
2 missing- microcytic anaemia
3 missing hbH- above plus hepatomegaly and haemolysis
4- incompatible with life- hydrops

Quantity

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Beta thalassaemia 
What is the inheritance and which chromosome 
What are the three forms 
What are the complications of major?
When does major present and why

AR- 11
1) carrier= 1 allele defective. Asymptomatic. Increased hbf and a2

2) intermedia-2 allele (one less severe) mild symptoms

3) major 2 alleles- transfusion dependant, splenomegaly and abnormal faces
Colelothiasis and haemochromatosis

6 months- normal transition point to HbA

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What is seen on blood film in lead poisoning

Basophilic stippling and sideroblasts

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Sideroblastic
What is it?
How is it inherited?
What syndrome is it associated with?

Unable to use iron properly, iron accumulates in mitochondria
X linked
Pearson syn

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What should be monitored for iron overload
When is chelation started
What infection is associated?

Serum ferritin levels
>1000
Yersinia

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What do the direct and indirect Coombs pick up

Direct- antibodies on red cells

Indirect- antibodies to red cells in serum

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What is the genetic defect in sickle cell anaemia

Point mutation in ch11 (abnormal beta chains)

Glutamine to valine

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When does sickle cell anaemia present?
What is a sequestration crisis
How could Vaso occlusive disease present?
What is the infection risk
What normally triggers an aplastic crisis
What is seen on blood film. What indicates the spleen issues
What is the definitive diagnostic test?

6 months/ picked up on screening. Chronic haemolytic anaemia( jaundice, gallstones, tachycardia, splenomegaly and sickle faces- maxillary hyperplasia)

Sudden reduction in circulating volume, sequestration In The spleen

Pain dactylysis priapism

Encapsulated organisms (functionally asplenic from 5 yrs)parvovirus b19

Sickle cells target cells and Howell jolly bodies. Targets and HJBs

Hb electrophoresis

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Treating sickle cell disease
What level of HbS should you aim for with transfusions
What else do they need

<30%

Pneumococcal and meningococcal vaccines Penicillin prophylaxis

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What is the defect in g6pd def?
How is it definitively diagnosed
What is the inheritance

Missense mutation
Lacking nadph- prevents cells against oxidative stress
Enzyme activity analysis
X linked

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Does g6pd have hepatosplenomegaly?

No!

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What can precipitate haemolysis in g6pd- 1 food and 3 drugs

How quickly do symptoms occur after exposure

Favs beans
Co trim chloramphenicol and nitrofurantoin
24-48 hours

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What is seen on blood film in g6pd def

Heinz bodies and bite cells

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What is the pattern of inheritance in pk def. what does the defect cause

Reduced atp. Rigid cells

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What causes HS 
What is the pattern of inheritance 
What is the typical presentation 
What is the definitive test?
What other fancy test might be used

Abnormal spectrin protein
AD 
Intermittent jaundice. Neonatal jaundice. Mild NN anaemia 
Osmotic fragility year
EMA testing- lower than normal

Fanconi anaemia What phenotypically is seen What is the definitive diagnostic test What type of anaemia do you see?

Short, Bifid thumbs, urinary retention, cafe au lait spots Lymphocyte breakage tests Macrocyclic

``` Fanconi anaemia What is the inheritance? What is the pathophysiology? What cell lines are affected? What cancers are they most at risk of ```

Autosomal Dom or recessive Increased fragility of chromosomes Initially red and plt then neutrophils SCC and AML

Diamond blackfan anaemia What does it cause What cell lines will it affect What are the classic phenotypical features

Early arrest of red cells maturing Red cells only Short, low IQ, webbed neck, triphalangeal thumb and renal anomalies

TEC How does it differ from diamond blackfan anaemia + what test would help?

Resolved in 1-2 months More likely toddlers No abnormal phenotypes Erythrocyte adeonsine deaminase activity normal not increased like DBA

Pearson syndrome Inheritance What does it cause

Mitochondrial Pancreatic dysfunction Pancytopenia

Dyskeratosis congenita What type of problem is it? What 3 classic features are seen What cancers are they at risk of

Telomere breakage Oral leukoplakia, nail dystrophy, lacy rash AML

Folate deficiency What is the main source in the body? How long do stores last? Where is it absorbed

Dietary 3-4months Small intestine

``` b12 def Where is it absorbed and stored How long do stores last for What can severe deficiency cause? What is seen on film? ```

Terminal ileum. Stomach 3-4 yrs Subacute combined degeneration of the Ford- post column loss Large hypersegmented neuts

Cyclical neutropenia What are the features What gene is abnormal What might gingivitis suggest?

Cycles of low neuts every 21 days, last 3-5 days. Fever, malaise, ulcers and sore throat ELANE Non benign cause

Chronic neutropenia What is the ANC normally? What types of infections do they tend to get?

<200 | Pseudomonas staph and E. coli

ITP What normally triggers it? Timing? What type of antibody develops? To what ? How long should it take to resolve if acute? What is the most serious side effect? What is Evans syndrome?

``` Viruses- 1-4 weeks post IgG to glycoprotein 11b/11a Under 6 months Intracranial haemorrhage ITP and haemolytic anaemia ```

What enzyme is lacking in ttp What might trigger it? 2 ways it’s different from hus ? How is it treated?

AdamTS13 Quinine, pregnancy, surgery Infections Vague symptoms leading to CNS signs and less diarrhoea Plasma exchange

What is the difference between neonatal alloimmune and autoimmune thrombocytopenia What type of antigens are usually found in alloimmune? Against what? If Asian what? What is the risk of ICH

``` Autoimmune= mum has ITP. Mum will have low PLT Alloimmune= mums platelets normal, abs to baby’s platelets ``` IgG-HPA1A 4a if Asian 30%

TAR syndrome | How do you differentiate from fanconi anaemia

Traombocytopenia with bilateral absent radii TAR Have thumbs Fanconi are bifid

What is Bernard soulier disease Do they have any other physical features? How is it different from glanzman

Autosomal recessive defect of glycoprotein receptor. Giant platelets No! Glanzman has normal platelet size

What does the PT and APTT measure in terms of clotting pathways? Which conditions are therefore screened by each?

PT- extristic pathway APTT- Intrinsic pathway PT- vitamin k def, liver disease, DIC, anticoagulants APTT- above plus haemophilia, VWD

What factors are involved in the extrinsic pathway? “ intrinsic “Common

Tissue factor and 7 12,11,9 and 8 X to Xa, 2 to 2a (prothrombin to thrombin), 13

What are vitamin K dependant factors?

2,7,9 and 10

Haemophillia What is the usual pattern of inheritance? How does haemophillia C differ? What happens to the APTT and PT? How will it change with mixing of inhibitors present What will happen to the bleeding time? What will give a prolonged APTT but normal reptilase time

``` X linked recessive 30% de novo Autosomal recessive Prolonged APTT, normal PT Won’t correct Normal Heparin contamination ```

Haemophillia What are normal levels of factor 8 and 9 What classifies a mild, moderate or severe deficiency? What is a target joint? What is the common presentation in a neonate? What is the most risk muscle to bleed into?

8-30-40 9-25-30 Mild-<5% mid 1-5%, severe <1% Thinning of the synovium following a bleed. Means repeated bleeds more likely Post circumcision bleeding Ileopaoas

Treating haemophillia In a bleed what should you aim factor to be in mild or severe deficiency? When does desmopressin have a role? What does it stimulate? What percentage will develop inhibitors? When do they occur? Are they equal in A&B? What tests for them?

``` Mild >30% Severe 100% Mild A only- stimulates release of VWF from endothelial cells 20%- A is more common 20 exposure days. Bethesda assay ```

How might factor 13 deficiency present

Delayed bleeding from the umbilical cord

``` Von Williebrand What is the inheritance? How do the three types differ? What types have low factor 8? What happens to the APTT, pt and bleeding time? Where do platelets and vwf bind to? What medication may be useful? Are boys more likely to have it than girls ```

``` AD 1-Reduced production 2-reduced quality 3- absent factor 1&2 Long APTT and bleeding time, normal pt Glycoprotein 1b Desmopressin NO ```

Name 5 inherited thrombophillias

Factor 5 leiden Factor C&S def Antiphospholipid syndrome Homocysteinuria

How do the pharmacomechanics of unfractionated and low molecular weight heparin differ? What is the most commonly used thrombolytic drug in children?

Unfractionated- wider action by increasing activity or antothrombin 3 (blocks extrinsic pathway) Lmw- acts directly on 10a TPA

Warfarin What do you need to cover with initially Which clotting factors does it inhibit

Heparin 2,7,9&10- vitamin K dependant

What is commonly seen on blood film in aplastic anaemia

Macrocytosis

What does cryoprecipitate contain

Fibrinogen, factor 8 and 13

What does FFP contain

All clotting factors, albumin and immunoglobulins

In DIC what should be given first

Cryoprecipitate to replenish fibrinogen then FFP

``` What is the half life of Factor 7 Factor 9 Factor 10 Factor 2 ```

7- 4-6h 9- 24 hrs 10 24-48 hrs 2 60 hrs

Alpha thalassaemia | For a child to have significant disease what do the parents have to have at least

Alpha zero (2 gene deletions)

Other than haemophillia with inhibitors, what is a cause of prolonged APTT that won’t correct with mixing

Lupus

What are examples of intravascular haemolysis. What is seen in blood Physiologically what happens “Extra vascular

Intra- haemolysis within the vessel. HUS, DIC mechanical valves Raised LDH ++ And low haptoglobin. Hb in urine Extra- haemolysis in RE system Hereditary auto/allo immune causes Urine clear, haptoglobin and LDH less elevated