Haematology Flashcards
What is Haemophilia A? What are the sub-categories?
Factor VIII Deficiency
Mild - surgical bleeding
Moderate - minor trauma bleeding
Severe: - spontaneous bleeding
How is haemophilia A transmitted?
X-linked
How does Von Williebrand disease present?
How is it transferred?
Mucosal Surface bleeding
Heavy periods
Woulds bleed heavily
*autosomal dominant
What other factor will be low in Von Williebrand disease, and why?
Factor VIII - it prolongs the half life of the factor.
Name two severe platelet disorders and the underlying pathology:
How are these transferred?
Glansmanns Thrombasthemia:
- lack GP IIb/ IIIa
Bernard Soulier Syndrome:
- lack GPIb/ V/ IX
*autosomal recessive
In Lupus Anti-coagulant disease, what would you expect to see on tests, and how does this correlate to in the body?
Increased APTT time
Paradoxically increased thrombus formation in the body.
DRVVT pre-longed. fixed with excess phosoplipids.
What is the pathology of Lupus causing increased APTT?
Antiphospholipid antibodies
How much Fe2+ is in the R.E.S?
200-500mg.
What disease may skew the serum ferritin results and why?
Inflammatory disease such as RA.
Because Serum ferritin is a inflammatory protein.
What “other” symptoms may be present in iron deficient anemia?
Koilonychia
Atrophic Glossitis
Angular Stomatitis
Oesophageal web
If 200mg of ferrous sulphate is given, what is the elemental amount of iron absorbed?
60mg - 30%
Why do people develop anaemia in pro-longed inflamamtion/ disease?
prolonged inflammation increases Hepcidin.
this reduces absorption and release from R.E.S
ILs released from inflammation may also shut down marrow activity.
EPO is also supressed
In anaemia of chronic disease, what different lab findings would you have to iron deficient anaemia?
ESR will be raised
Ferritin levels will be raised
Total iron levels will be reduced
What receptors do B12 bind with in the gut and where are these predominantly found?
Cubulin
in the ileum.
How is B12 transported in the blood?
Transcobalamin
What are some symptoms of B12 deficiency?
Anaemic symptoms
Mild jaundice - ineffective RBC production
Neurological disturbances - especially the posterior pyramidal tracts
In megoblastic anaemia, what do the blood cells look like?
Macrocyctic
Very Red
HIgh MVC
What chromosome is globin A made on?
Chromosome 16
What chromsome is Globin B, Gamma and delta made on?
Chromosome 11
How many genes code for Alpha globin?
4 genes
If there is 1 gene missing from Alpha globin, what is the disease state?
Alpha thalassemia trait - mild microcytosis
If the person has 2 gene missing for alpha globin, what is the disease state?
Alpha Thalasemia minor
- microcytosis
- Low MVC
- increased red count
If there is 3 genes missing from alpha globin, what is disease state?
Hb Disease
- leads to haemolysis in spleen due to bizzare shape
what is it called when there is 4 genes missing from alpha genes?
Barts Hb.
incompatible with life.
What is beta thalassaemia major?
both genes for beta globin missing.
Symptoms appear after fetal globin is gone.
Extra-medullary areas try and produce RBCs - especially skull
What is another complication of Beta thalassaemia?
Haemochromotosis - hepcidin is reduced in order to try and increased Fe2+ levels.
What is the genetic mutation in sickle cell disease?
Non conservative single base pair change to the Beta globulin chain.
- thus affects children >6 months
glutamie to valine.
What are some serious complication of sickle cell disease?
Vaso-occlusion
- tissue hypoxia
- stroke
- infarction
What disease causing changes in the membrane leading to sphere like appearance and what is the protein defective?
Hereditary spherocytosis.
Spectrin
What is the outcome of Hereditary spherocytosis?
haemolysis in the spleen. RBCs unable to fit through mesh.
What disease leads to RBCs being unable to cope with oxidative tress?
Glucose - 6 - Phosphate DEhydrogenase Deficiency.
lack of Glutathione
What immunoglobulin is indicating in warm type haemolytic anaemia?
IgG
What immunoglobulin is indicated in cold type haemolytic anemia?
IgM
What is the initial treatment for warm haemolytic anaemia?
Steroids
blood transfusion is patient is gravely ill and can’t wait for steroids to work
Splenectomy
What is the name of Glandular fever? and what virus causes it?
Infectious mononucleosis
Epstein Barr virus
What two important LFT may be elevated in haemolysis of RBCs?
Bilirubin
Lactate dehydrogenase
In Immunothrombocytopenia would you expect to see an enlarged spleen?
No - the platelets are too small
Can amoxicillin be given for Glandular fever?
No. causes bad rash.
if antibiotics are needed then only Penicillin B
What factors are used up in Haemolytic Uraemic Syndrome?
Platelets
If the spleen is removed, what kind of RBCs may be seen that still contain their DNA?
Howell Jolly Body cells
Which disease is much more severe when the spleen is removed?
Malaria
If a person has sphere shaped RBCs and a coombes test is performed and it comes back negative, what does this mean?
means they don’t have auto immune disease and that their sphere shaped cells is due to autosomal dominant sphereocytosis
What blood disease is associated with other autoimmune disease, and will cause CNS dysfunction?
Pernicious anemia
What is a paediatric vasculitis that causes strange rash formation?
Henoch Scholien
If there is a purpuric rash, what type of meningitis can this be a symptom off?
meningococcal sepsis
Thombophilia Inherited affects what? and how is it inherited?
Anti-thrombin
Protein C
Protein S
Autosomal dominant
How is Beta thalaseamia inherited?
Autosomal recessive
Who is most likely to inherit Spherocytosis?
Northern Europeans - autosomal dominant
How is G-6-PD inherited and who is most likely to get it?
X-linked.
Africans.
What activates protein C and protein S, and what does it need to bind with to be activated?
thrombo-modulin.
Needs to be bound to IIa
What infections are of particular concern when a person has their spleen removed and how is this managed?
Nisseria Meningitis
Haemophilus Influenza
strep pneumonia
Treated with prophylactic amoxicillin for life and vaccinations
What disease may Heinz bodies and bite cells be seen?
Glucose - 6 - dehydrogenase deficiency
What is something you must always ask a Sickle Cell patient?
Have they got chest pain, or cough.
thinking about acute chest syndrome
What kind of haemolysis is sickle cell disease?
Intravascular
Where is an aspirate of bone marrow taken from?
Iliac Crest
Whats it called when CO2 dissolves into the RBC?
Chloride Shift
How do the macrophages of the RES get iron?
Break down of old RBCs
How much is each mmol of Ferritin inequivalent too of iron stores?
1mmol/L = 8mg of Iron
What is it called where there is a reduction in the RES Iron stores, but the bone marrow maintains a normocytic anaemia by using what there is?
Latent Iron Deficiency
- 20% of females have this
Low ferritin but normalcyctic cells
Whats the most common anaemia in hospital patients?
Anaemia of chronic disease
Generally speaking what does roulex in the RBCs mean?
High ESR but can be associated with myeloma
What are the key roles of B12?
Methylation of homocysteine to methionine
Methylone isomerization of CoA
What skin conditions may need increase folate and B12 intake?
Psoriasis
If you have petechia, what is this suggestive off?
Small capillary bursts with platelet disorders
How do you treat platelet disorders?
Platelets transfusion
- HLA matched
Tranexamic Acid
What may someone have if they continually get DVTs?
Thrombophilia
Deficiencies:
Antithrombin *most common
Protein C
Protein S
Name the types of warm haemolytic anaemia, and the management of this:
Primary - idiopathic
Secondary - acquired. SLE, CCL, Non-hodgkin lymphoma
Steroids
Blood transfusion - those that can’t wait for steroids to work
Folic Acid
Splenectomy
- S. Pneumoniae
- H. Influ
- N. Meningitis
What your investigations into Anaemia?
FBC
Blood Film
Iron
Ferritin
Transferrin/ TIBC
B12
Folate
LFTs
- haemolytic causes
Chest x-ray
- suspicious of cancer
*check for bleeding
Serum electroplates if suspect Bence jones
Comb’s test if suspecting anything
What is the relationship between Ferritin and TIBC?
Indirect - as one goes up the other will go down.
this is important to establishing between anaemia of chronic disease and iron loss anaemia
