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MRCP Part 1 > Haematology Clinical > Flashcards

Haematology Clinical Flashcards

1
Q

What is methaemoglobinaemia?

A

Haemaglobin which has been oxidised from Fe2+ to Fe3+. There is usually small amounds but methaemoglobinaema is when too much forms, When this happens oxygen cannot bind and it leads to tissue hypoxia. This happens when there is a lack of the enzymes that convert metheomoglobin to normal haemagolin.

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2
Q

What causes methaemoglobinaemia?

A

Congenital - problem with the synthesis of cytochromone B5 reductase. There are two types.
Acquired - exposure to substances such an benzocain, dapsone and nitrates. These medicines act as oxidants which creates more methaemoglibin

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3
Q

What are the symptoms of acquired methaemoglobinaemia?

A

Presents acutely - cyanosis (when methhaemoglobin 15%)
Headaches
Seizures, breathlessess, Palpitations, MI
Levels over 70% are usually fatal

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4
Q

How is methaemoglobinaemia diagnosed?

A

Blood is a brown colour
Low sats with Normal partial pressure of O2
Multiple wavelengh co oximeter

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5
Q

How to do treat acquired methaemoglobinaemia

A

Oxygen and IV methylene blue

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6
Q

What are the two types of congenital methaemoglobinaemia?

A

Type 1: Cytochrome B5 reductase in absent in only in red cells (methaemoglobinaemia are between 10 - 15%)
Type 2: Cytochrome B5 reductase in absent in all cells (methaemoglobinaemia levels are over 35%)

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7
Q

What is acute intermittent porphyria?

A

A rare autosomal dominant condition caused by a defect in porphobillinogen deaminase - an enzyme involved in the biosynthesis of haem. This results in toxic accumulation of delta aminolaevulinic acid and porphobillinogen. It presents eith abdominal and neuropsyhciatric symptoms in 20 - 40 year olds.

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8
Q

How do you diagnose acute intermittent porphyria?

A
  • Urine turns red on standing
  • Raised urinary porphobilinogen (higher during attacks)
  • Porphibilinogen deaminase raised on a red cell assay.
  • Riased serum levels of delta aminolaevulinic acid and porphobilinogen
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9
Q

What are the types of sickle cell crisis?

A

Thrombotic ‘painful crisis’
Sequestrian - sicling within organs such as the spleen on lungs causes pooling of blood with worsening of anaemia
Acute chest syndrome
Aplastic - caused by parvovirus infection
Haemolytic

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10
Q

Where is the mutation in seen in polycythaemia rubra vera?

A

JAK 2 gene mutation - causes this gene to be always activated and cause unchecked red blood cell production. After a period of time scarring occurs (spent phase) and the bone marrow is not able to produce blood cells - this is called myelofibrosis

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11
Q

What is the treatment for polycythaemia rubra vera

A
  1. Venesection
  2. Hydroyurea
  3. Ruxolitinib (JAK 2 Inhibitor)
  4. Aspirin
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12
Q

What can polycyethaemia vera progress to?

A

Myelofibrosis and AML (5 - 15%)

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13
Q

What does the BCR ABL gene code for?

A

A fusion protein which has excess tyrosine kinase activity

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14
Q

What is the most common gene mutation see in CML?

A

Philidelphia chromosone (translocation between chromosone 9 and 22)

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15
Q

What is the first line treatment for CML?

A

Imatinib - inhibits the tyrosine kinase acssociated with the BCR ABL defect

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16
Q

What is the most common cause of inherited thrombophilia in the UK?

A

Factor V Leiden (activated protein C resistance)

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17
Q

What is factor V Leiden disease?

A

A mutation in the factor V Leiden protein. It means that activated factor V (clotting factor) is inactivated 10 times more slowly by activated protein C than normal. Hetrozygotes have a 4 -5 x increase risk of VTE. Homozygtes have a 10 x increase

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18
Q

Are auer rods seen in the blood film of AML or ALL?

A

AML

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19
Q

What is the treatment for acute promyelocytic leukemia?

A

All trans retinoic acid (ATRA) vitamin A derivitive

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20
Q

What is the most important prognostic factor in AML?

A

Cytogenetics - deletion of chromosome 5 or 7 have a poor prognosis
Being over 60 and having more than 20% blasts after the first course of chemo are also poor prognostic factors

21
Q

What translocation is associated with acute promyelocytic leukemia

A

t(15;17)

22
Q

What is the treatment for qcute chest syndrome in sickle cell patients?

A

Oxygen
IV fluids
Pain relief
Incentive spirometry if rib or chest pain
Antibiotics
Transfusion to be considered in the hypoxic patient.

23
Q

What is thrombotic thromocytopenic purpura?

A

A condition associated with pregnancy where there are abnormally large and sticky multimers of von willebrands factor which causes platelets to clump within vessels. This causes a low platelet count, low haemaglobin and kidney, heart and brain dysfunction.

24
Q

What is the treatment for Thrombotic thrombocytopenic purpura?

A

Plasma exchange
Steroids
Immunosuppressants
Vincristine

25
Q

What is sideroblastic anaemia?

A

Red blood cells fail to completely for haem and this causes deposits of iron in the mitochondria that forms a ring around the nucleus called a ring sideroblast

26
Q

What are the causes of sideroblastic anaemia?

A

Myelodysplasia
Alcohol
Lead
ANti TB medication

Also can be congenital (detla aminolevulinate synthase 2 deficiency)

27
Q

What medication might be used for sideroblastic anaemai?

A

Pyroxidine

28
Q

What is beta thalassaemia?

A

Genetic condition in which there is a deficiency in the beta globin chains of haemaglobin (can be partial or complete.) Caused by a point mutation.
Free alpha chains accumulate in the RBCs and these undergo haemolysis

29
Q

What are the four types of globin chains?

A

Alpha, beta, gamma and delta

30
Q

How is beta thalassaema inherited?

A

Autosomal recessive

31
Q

What are the different types of beta thalassaema?

A

Major and minor

32
Q

What does beta thalassaema major first present and why?

A

3 - 6 months - up intil then fetal haemaglobin uses up the free alpha chains

33
Q

What are the symptoms of beta thalassaemia major?

A 
Fatique
Jaundice 
Pallor 
SOB 
Hepatosplenomegaly 
Growth retardation 
Haemachromatosis
Enlarged forehead and cheekbones
34
Q

How do you diagnose beta thalassaemia on a blood film?

A

Microcytic hypochromic rbc and target cells

35
Q

How do you confirm a diagnosis of beta thalassaemia

A

Haeamglobin electrophoresis

36
Q

What chromosome is the mutation on in beta thalassaemia?

A

11

37
Q

What types of haemaglobin is raised in beta thalassaemia minor?

A

haemaglobin A2

38
Q

What is idiopathic thrombocytopenia (ITP)?

A

Immune mediated reduction in the platelet count. Antibodies are directed against the glycoprotein IIb/IIIa complex

39
Q

What is the diagnostic test for hereditary spherocytosis if the diagnosis is not clear from blood film and family history?

A

EMA binding test and the cryohaemolysis test

40
Q

What is the management for a haemaolytic crisis of hereditary spherocytosis?

A

Supportive - fluids, folic acid and monitoring.

41
Q

What gene translocation is seen in burkitts lymphoma?

A

c myc (translocation of 8:14)

42
Q

What viral infection is linked to burkitts lymphoma

A

EBV

43
Q

What gene translocation is seen in follicular lymphoma?

A

t (14,18) - this increases BCL 2 transcription

44
Q

What gene translocation is seen in mantle cell lymphoma?

A

t(11, 14)

45
Q

What gene translocation is seen in promyelocytic lymphoma?

A

t (15,17)

46
Q

What do you see on the blood film of chronic lymphocytic leukemia?

A

Smudge cells (smear cells)

47
Q

What do you see on a blood film of patients with hyposplenism>

A

target cells and howell jolly bodies

48
Q

When do you see bite cells in the peripheral blood film?

A

G6PD deficiency

MRCP Part 1 (30 decks)

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