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GPEP > Haematology > Flashcards

Haematology Flashcards

1
Q

What causes alpha thalassemia and how is it inherited?

A

Defective alpha glob in chain of haemaglobin
AR inheritence
- silent carrier (heterozygous)
- Alpha thal minor (2 defective genes)
- HbH (3 defective genes)
- Hb Barts Hydrops Fetalis (all 4 defective genes) 4 gamma chains as no alpha chains

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2
Q

What will alpha thalassemia blood tests show?

A

Low Hb, Low MCV and MCH
Blood film: hypochromic microcytic RBC, +/- target and golf cells
haemoglobin electrophoresis: HbH may be present
gene testing can confirm

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3
Q

treatment for alpha and beta thalassemia

A

mild: nil
severe : tranfusions

if beta thalassemia major may also need iron chelating agents or spleenomegaly

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4
Q

What causes beta thalassemia and how is it inherited?

A

AR inherited - most commonly seen in Mediterranean, African and South East Asian populations

Usually due to a point mutation messing up beta thalassemia production

Can be minor, intermedia or major

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5
Q

What are the symptoms of Beta- thalassemia major and when do they start

A

SOB, pallor, fatigue
Hepatospleenomegaly
Hypoxia from haemolysis
Jaundice from excessive bilirubin
secondary haemachromatosis due to excessive heme/iron
chipmunk facies / crew cut skull

start in the first 3-6 months of life

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6
Q

What will beta thalassemia blood tests show?

A

Low Hb, Low MCV and MCH
Blood film: hypochromic microcytic RBC, +/- target cells
High ferritin, serum iron and transferinand bilirubin may be present

gene testing can confirm

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7
Q

Signs and blood findings of folate deficiency

A

Signs of anaemia
Glossitis
IHD sx: CP, atherosclerosis
Neural tube defects in newborns
Pancytopenia: anaemia, WBC and RBC precursers affected

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8
Q

What is myelofibrosis ?

A

Where the bone marrow gets fibrosed /replaced with connective tissue
Primary: JAK-stat pathway overactivated and fill the bone with abnormal cells (platlets and fibroblasts) that make too much connective tissue

Secondary: Essential thrombocythemia, or PCV

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9
Q

Bloods for haemachromatosis will show

A

High iron/ferritin
High transferrin sat % (as lots of transferrin binding sites occupied by iron)
Low TIBC (as less binding sites available to carry iron)

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10
Q

Treatment of haematchormatosis

A

regular venesections
+/- iron chelating agents

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11
Q

What causes Auto immune haemolytic anaemia

A
  1. Idiopathic
  2. trigger: vira linfections, SLE, lymphoma/leukemia, penicillin,cephalosporin

Col dcan also be triggered by mycoplasma, EBV/galndular fever

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12
Q

How does autoimmune haemolytic anaemia happen

A

Body creates antibodies against our own RBCs
Broken down in the liver/spleen

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13
Q

Warm AI haemolytic anaemia vs cold

A

Warm: due to IgG antibodies at warm >37degrees bind to RBCs and induce haemolysis

Cold (rare): IgM antibodies at 0-10 degrees

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14
Q

Bloods for autoimmuen haemolytic anaemi

A

Low Hb
Normal MCV (as bone marrow pumps out lots of reticulocytes which are the same size as RBCs)
High reticulocytes
high LDH, bilirubin and iron (due to RBC break down)

direct coombs or antigen test

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15
Q

Treatment of autoimmune haemolytic anaemia

A
  • RBC transfusion
  • Steroids or immunosuppresives
  • plasmophoresis for severe cases
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16
Q

CML vs CLL
which cells are affected

A

CML: issue with neu, basophils, eosinophils
CLL: lymphocytes (B cells and T cells)

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17
Q

CML is caused by

A

Switch between chromosome 9 and 22 causing philidelphia chromosome t(9:22) which causes inappropriate myeloid cell division

ofted builds up in the spleen and liver (hepatospleenomegaly)

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18
Q

CLL ic caused by

A

excessive B and T cells

Builds up in lympnodes first, (lyphadenopathy) causing small lymphomas

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19
Q

Treatment of CML vs CLL

A

CML : Biological therapy to target protein from t(9:22)
As there isn’t a specific CLL target the therapy involves chemo, stem cell transplants or bone marrow transplants

20
Q

Symptoms of myelofibrosis

A
  • bone pain
  • fatigue
  • itching
  • weightloss
  • can cause hepatospleenomegaly and pulm HTN, excessive clotting and VTE
21
Q

What would you with a patient with myelofibrosis
- on their bloods
- on a blood smear
- in their bone marrow

A

Bloods: initially excessive platlets, then a pancytopenia
Smear: tear drop RBCs (as they get squeezed throguh fibrotic tissue)
Marrow: increase in haematopoetic cells and early myelofirbrosis

22
Q

Treatment of myelofibrosis

A

Ruxolitinib- to inhibit the JAKstat mechanism
Stem cell transfusions
transfusions for pancytopenia
EPO for anaemia

23
Q

What are some atypical signs of IDA

A
  • kolionychia
  • Pica
  • hair loss
  • itch
24
Q

What do IDA bloods show

A

Low HB
Low MCV
Low ferritin, serum iron and transferrin (amount of iron bound to transferrin)
High TIBC
High RDW (lots od differently sized RBCs)

25
Q

What causes Anaemia of chronic disease

A

chronic inflammation states mess up RBC production
ie: infections, malignancy, diabetes, autoimmune conditions

usually a mild anaemia

26
Q

difference between hogkins and non hodgkins lymphoma

A

Hodgkins
- x1 site of LNs
- Reed steenberg cells
- Rarer
- better prognosis

Non-Hodgkins
- Multiple sites
- Extranodal: skin, gut
- no reed stenberg cells (usually)
- 90% cases, small amount assoc w EBV

Both have B sx (night sweats, WL, fevers)s, pruitis, fatigue, lymphadenopathy

27
Q

What types of cells do you get in hodgkins lymphoma

A

Crippled B cells that dont make antibodies as they should

Hodgkins cells: Large mononuclear B cells OR
Reed Stenberg cells: 2x hogkins cells stuck together

28
Q

Symptoms of non hogkins lymphoma

A

The release of cytokines causes symptoms like fever, drenching night sweats, and weight loss.

GI tract involvement > bowel obstruction.

Bone marrow > fatigue, easy bruising, or recurrent infections.

spinal cord involvement > LL weakness/numbness

29
Q

Is burkitts lymphoma more aggressive

A

More aggressive B cell lyphoma - starry sky on film

mantle cell also very aggressive

30
Q

What is sickle cell anaemia

A

AR inherited condition

RBC in the shape of a sickle/cresent which damages the cell membrane increases the rate of their destruction

This is due to a mutation causing a defect in the beta - globin chain

31
Q

Is it dangerous to be a sickle cell carrier (heterzogyous gene carrier)

A

No, not unless you are in extreme conditions (high altitude etc)

It can actually be protective against malaria

32
Q

What is HbS

A

sickle haemaglobin (normal alpha, mutated beta chains)

Carries oxygen normally, but when deoxygenated can stick together into long chains (sickle-ing) causing the RBC to be crescent shaped
- this happens in small vessels or in acidosis

33
Q

Signs/symptoms of sickle cell anaemia

A

Anamia, sickle cells and howell jolly cells on film
Bone formation else where as bone marrow is in overdrive
- hair on end skull xray
- enlarged cheeks
Hepatomegaly

Blood can clog up in the
- hands (dactylisis)
- Spleen (splenic infarcts/sequestration).&raquo_space;> high infection risk to encapsulated bacteria
- Bone (AVN of bone)

34
Q

What is antiphopholipid syndrome?

A

Autoimmune disease with antiphospholipid antibodies which attack phospholipids in the cell membrane

leads to a hypercoagulable state, increasing VTE risk, endocarditis, kidney failure, livedo reticularis, pregnancy complications, headaches/seziures

35
Q

What are the pregnancy related complications of antiphospholipid syndrome?

A
  • Placental infarctions causing miscarriage
36
Q

How to diagnose antiphospholipid syndrome

A

clinical hx + presence of antibodies

37
Q

Treatment of antiphospholipid syndrome

A
  • aspirin
  • avoid smoking and COCP
  • Pregnancy: LMWH and aspirin
38
Q

What causes PCV

A

JAK2 mutations which causes over production of RBCs

later leads to myelofibrosis

39
Q

Symptoms of PCV

A

fatigue, dizziness, increased sweating, redness in the face, blurred vision, and itchy skin especially after a hot shower.

Itchiness develops due to the increased number of basophils and mast cells which contain histamine that causes itching when released.

Splenomegaly or spleen enlargement is also common because the excess red blood cells buildup in the spleen, which usually helps with removing excess cells.

40
Q

Haemophilia A is a deficiency in?

A

Factor 8 (VIII) - X linked reccessive

this is by far the most common haemophilia
Part of the INTRINSIC Pathway
Linked with Von willibrands, liver disease, DIC, vit K deficiency

41
Q

Haemophilia B is a deficiency in?

A

Factor 9 - X linked recessive

Part of the INTRINSIC pathway

42
Q

How to test for haemophilia

A

prolonged APTT (tests intrinsic and common pathways)
Normal PT, platlets

43
Q

What cells are abnormal in Multiple myeloma

A

Abnormal plasma cells (from B cells), that uncontrollably divide and crowd out the bone marrow

44
Q

How does multiple myeloma cause issues in all the other parts of the body

A

plasma cells produce excessive amounts of monoclonal antibodies that deposit in the tissues

Kidney > renal failure
bloodstream > viscous blood (blurred vision, headache)
Pathologic fractures (bone pain)

45
Q

Tests for anaemia

A

FBC: anaemia, pancytopenia
UEs: High Creatinine, high calcium
Blood smear: roleux formation

Excess kappa or lamba light chains causing a abnormal FLC kapp:lambda ratio
Excess M protein/paraprotein (abnormal immunoglobulin)
Bone marrow: excess plama cells

46
Q

What is MGUS

A

A patient with abnormal m protein/paraprotein immunoglobulins but doesn’t meet MM criteria

47
Q

ITP

A

GPEP (24 decks)

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