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Haematology Flashcards

1
Q

What is the MCV and MCH range for NORMOCYTIC and NORMOCHROMIC anaemia respectively?

A 
MCV= 80-95
MCH= 27-33
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2
Q

What are the 5 causes of Microcytic Hypochromic Anaemia?

A

Iron deficiency

Lead poisoning

Anaemia of chronic disease

Sideroblastic anaemia

Thalassaemia

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3
Q

What are the 5 causes of Normocytic Normochromic Anaemia? (2 for increased reticulocytes and 3 for decreased reticulocytes)

A

Increased reticulocytes-

  • Acute haemorrhage
  • Haemolytic Anaemia (like SICKLE CELL ANAEMIA)

Decreased reticulocytes-

  • Bone marrow disorders (like APLASTIC ANAEMIA)
  • Anaemia of chronic disease
  • Chronic Kidney Disease
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4
Q

What are the causes of Megaloblastic (2) and Non-megaloblastic (3) Macrocytic Anaemia?

A

Megaloblastic-

  • Folate deficiency
  • B12 deficiency

Non- Megaloblastic-

  • Alcoholism
  • Liver disease
  • Hypothyroidism
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5
Q

What is the pathophysiology of Acute Lymphoblastic Leukaemia?

(5 points to mention)

A

It is the proliferation of lymphoblasts (mostly in the B cell lineage)

This is mainly due to a translocation of genes- T(12;21) is the most common translocation that can cause this

The T(9;22) translocation in the Philadelphia Chromosome which causes Chronic Myeloid Leukaemia can also cause this- in this translocation, a fusion of the BCR and ABL proteins is produced alongside a constitutively active TYROSINE KINASE receptor (meaning it is independent of a ligand)

This results in the proliferation of lymphoblasts- which accumulate in the BONE MARROW and lead to BONE MARROW FAILURE- leading to ANAEMIA and THROMBOCYTOPAENIA

The lymphoblasts can also leak into the blood and invade other tissues (3) such as the TESTICLES, MENINGES and KIDNEYS.

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6
Q

What are the 4 risk factors for Acute Lymphoblastic Leukaemia?

A

Most cases occur in patients<6 years old

Down’s Syndrome

Benzene exposure (painters, petroleum, rubber manufacturers)

Family history

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7
Q

What are the 11 signs of Acute Lymphoblastic Leukaemia

A

Fatigue

Loss of Appetite

Hepatosplenomegaly

Lymphadenopathy

Thrombocytopaenia signs- easy bruising, prolonged bleeding and mucosal bleeding

Anaemia signs- Pallor

Anaemia signs- FLOW MURMUR

Neutropaenia signs- Recurrent infections

CNS involvement- meningism and cerebral nerve palsies

Testicular swelling- due to testicular involvement

Weight loss

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8
Q

What are the 8 investigations to be ordered in the event of Acute Lymphoblastic Leukaemia?

A

FBC (3)- lymphocytosis, thrombocytopaenia, NORMOCYTIC ANAEMIA with LOW RETICULOCYTE COUNT

Blood film- lymphoblasts

Bone marrow aspiration and TREPHINE BIOPSY- >20% lymphoblasts is diagnostic

Markers for B (3) and T (2) cells

  • B cells- TdT, CD10, CD19
  • T cells- TdT, CD2 to CD8

Cytogenetic/ molecular studies to find T(12;21) and T(9;22)

Lumbar puncture to identify CNS involvement

CXR to identify MEDIASTINAL MASS/ THYMUS MASS

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9
Q

What are the complications of pretty much all forms of Leukaemia and Hodgkin’s Lymphoma?

A

Myelosuppression

Neutropaenic sepsis

Chemotherapy can lead to tumor lysis syndrome= Hyperkalaemia, Hyperphosphataemia, Hyperuricaemia and Hypocalcaemia

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10
Q

What is the most common acute leukaemia in adults?

A

Acute Myeloid Leukaemia

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11
Q

What is the pathophysiology of Acute Myeloid Leukaemia?

A

Myeloblasts are immature white blood cells which become mature white blood cells (neutrophils, eosinophils and basophils)

The rapid replication of immature myeloblasts in AML causes the leukaemia cells to replace normal bone marrow cells- this results in the drop of other cells such as RBCs, WBCs and platelets.

This causes bone marrow failure

These myeloblasts contain crystal aggregates of myeloperoxidase called AUER RODS

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12
Q

What are the 2 types of Acute Myeloid Leukaemia and what are 3 facts about each of them?

A

M3- Acute promyelocytic leukaemia

  • T(15;17)- involves the fusion of RAR receptor with PML receptor
  • Consists of Auer Rods
  • Abnormal promyelocytes release granules- which causes THROMBOCYTOPAENIA and DISSEMINATED INTRAVASCULAR COAGULATION

M5- Acute monocytic leukaemia

  • Usually lacks Auer Rods
  • Monoblast accumulation
  • Results in GUM INFILTRATION
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13
Q

What is the main risk factor for Acute Myeloid Leukaemia?

A

Benzene exposure

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14
Q

What are the 9 signs of Acute Myeloid Leukaemia?

A

Fatigue

Loss of Appetite

Hepatosplenomegaly

Lymphadenopathy

Thrombocytopaenia signs- easy bruising, prolonged bleeding and mucosal bleeding

Anaemia signs- Pallor

Anaemia signs- FLOW MURMUR

Neutropaenia signs- Recurrent infections

Weight loss

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15
Q

What 6 investigations should be ordered if Acute Myeloid Leukaemia is suspected?

A

FBC (4)- Leukocytosis, Thrombocytopaenia, Anaemia with LOW RETICULOCYTES and NEUTROPAENIA may also be present as myeloblasts are unable to differentiate into functional neutrophils

Blood film- Myeloblasts with AUER RODS- seen on MYELOPEROXIDASE SCREENING

Clotting screen- DISSEMMINATED INTRAVASCULAR COAGULATION is seen in ACUTE PROMYELOCYTIC LEUKAEMIA

Cytogenetic/ molecular studies to find T(15;17) RAR PML

Myeloid lineage markers CD33

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16
Q

What is the 2 step management for Acute Myeloid Leukaemia?

A

Induction-

1) Cytarabine and Anthracycline/ Daunorubicin
2) Add the A.T.R.A. regimen for Acute Promyelocytic Leukaemia

Consolidation-

1) Further chemotherapy offered
2) High risk patients receive stem cell transplantation

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17
Q

What is the pathophysiology of Chronic Lymphocytic Leukaemia?

What 3 complications are associated with Chronic Lymphocytic Leukaemia?

A

It is the proliferation of MATURE B LYMPHOCYTES which mainly collect in the blood so can be seen in blood films

If they collect in the lymph nodes then the disease is called Small Lymphocytic Lymphoma (SLL) but it is the same as CLL

The three complications associated with Chronic Lymphocytic Leukaemia-

  • Hypogammoglobuminaemia
  • Autoimmune Haemolytic Anaemia
  • Richter Transformation (Transformation into Non-Hodgkin’s Lymphoma)
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18
Q

What are the 10 symptoms associated with Chronic Lymphocytic Leukaemia?

A

Fatigue

Loss of Appetite

Hepatosplenomegaly

Lymphadenopathy

Thrombocytopaenia signs- easy bruising, prolonged bleeding and mucosal bleeding

Anaemia signs- Pallor

Anaemia signs- FLOW MURMUR

HYPOGAMMOGLOBUMINAEMIA signs- Recurrent infections

Weight loss

Fever

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19
Q

What 5 investigations should be performed if Chronic Lymphocytic Leukaemia is suspected?

A

FBC (Lymphocytosis- Thrombocytopaenia and Anaemia may be seen)

Blood film- increased number of Mature Lymphocytes and Smudge Cells

CD5, CD19, CD20 and CD23

Hypogammaglobulinaemia (check serum immunoglobulin via PCR or something like that)

Coomb’s Test (direct antiglobulin test (DAT)) if AUTOIMMUNE HAEMOLYTIC ANAEMIA is suspected (it identifies this)

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20
Q

In addition to the main complications associated with all leukaemias, what is the additional complication associated with Chronic Lymphocytic Leukaemia?

A

Gout

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21
Q

What is the pathophysiology of Chronic Myeloid Leukaemia?

A

It is the proliferation of mature myeloid cells- mainly granulocytes

It involves the T(9;22) translocation in the Philadelphia Chromosome which occurs in 95% of patients- it is the fusion of BCR and ABL genes which codes for a form of tyrosine kinase receptor that is always switched on and causes cells to uncontrollably divide

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22
Q

What are the 11 signs of Chronic Myeloid Leukaemia?

A

Fatigue

Abdominal tenderness

Bone pain (due to marrow expansion)

Shortness of breath

Hepatosplenomegaly

Lymphadenopathy

Thrombocytopaenia signs- easy bruising, prolonged bleeding and mucosal bleeding

Anaemia signs- Pallor

Neutropaenia signs- Recurrent infections

Weight loss

Fever

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23
Q

What 4 investigations are conducted in Chronic Myeloid Leukaemia?

A

FBC (3)- leukocytosis, granulocytosis, anaemia with reduced LEUKOCYTE ALP

Blood film- an increase in ALL STAGES of MATURING GRANULOCYTES

Bone marrow biopsy- myeloblast infiltration in the bone marrow

Cytology/ molecular studies for T(9;22)- Philadelphia Chromosome

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24
Q

What is the management plan for Chronic Myeloid Leukaemia? (Based on the percentage of Blast Cells)

A

Generally the first line treatment is the TYROSINE KINASE INHIBITOR called IMATINIB

But if the BCR-ABL fusion is not confirmed then HYDROXYUREA can be given and then switched to IMATINIB

<10% blast cells- First line= Imatinib, Second line= Imatinib and Interferon Alpha, Chemotherapy and Stem cell Transplantation if the above fails

> 10% blast cells- First line= Imatinib and Chemotherapy and Stem cell Transplantation

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25
Q

What are the main risk factors for DVT?

A

Virchow’s Triad-

  • Hypercoagulability
  • Venous stasis
  • Endothelial Damage

Drugs-

  • HRT
  • Tamoxifen
  • Combined Oral Contraceptive Pill
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26
Q

What are the hereditary (3) and acquired (5) causes of Hypercoagulability that leads to DVT?

A

Hereditary-

  • Factor V Leiden
  • Protein C and S deficiency
  • Antiphospholipid Syndrome

Acquired-

  • Malignancy
  • Chemotherapy
  • COCP/ HRT
  • Pregnancy
  • Obesity
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27
Q

What are the 2 causes of Venous Stasis that leads to DVT?

A

Polycythaemia

Immobility (admitted in hospital etc)

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28
Q

What are the 4 causes of Endothelial Dysfunction which leads to DVT?

A

Smoking
Surgery
Catheter (PICC)
Trauma

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29
Q

What are the 5 signs of DVT?

A

Unilateral calf pain and tenderness

Oedema

Tender and erythematous

Distension of superficial veins

Phlegmasia cerulea dolens- obstruction of venous and arterial flow which leads to ischaemia and a blue and painful leg

30
Q

What investigations should be done if DVT is suspected?

A

First do a Well’s Score test

If it is 2 or higher- then a DVT is likely- so do a DUPLEX ULTRASOUND within 4 hours as this is DIAGNOSTIC
- If a Duplex is not possible or is negative then do a D-DIMER TEST and ANTICOAGULATION

If the Well’s Score is 1 or lower- then a DVT is unlikely- so do a D-DIMER and offer ANTICOAGULATION

  • If the D-Dimer is raised- perform a DUPLEX US within 4 hours
  • If the D-Dimer is low- look for an alternative diagnosis

If there is evidence of cancer- then perform CT imaging

Investigate for thrombophilia- unless the patient is on lifelong coagulation

  • Antiphospholipid antibodies if unprovoked DVT and plan to stop ANTICOAGULATION
  • Thrombophilia screen if unprovoked DVT and plan to stop ANTICOAGULATION and they have a relative who has had DVT
31
Q

What is the management for DVT?

A
  1. NO RENAL IMPAIRMENT-
    a. APIXABAN or RIVAROXABAN
    b. OR LMWH or LMWH and WARFARIN
  2. RENAL IMPAIRMENT (CREATINE CLEARANCE<15)-
    a. LMWH or UNFRACTIONATED HEPARIN (you can add warfarin for either of them until INR is 2, then switch to just warfarin)
  3. ACTIVE CANCER
    a. DOAC (RIVAROXABAN)
    b. OR LMWH
32
Q

What is the pathophysiology of Hereditary Spherocytosis?

A

It is an inherited autosomal dominant haemolytic anaemia

The RBCs appear spherical instead of biconcave and this leads to NORMOCYTIC ANAEMIA and SPLENOMEGALY

Because of the RBC shape, the haemoglobin is broken down into bilirubin. The high amount of bilirubin increases the risk of GALLSTONES and CHOLECYSTITIS

33
Q

What are the two main risk factors for Hereditary Spherocytosis?

A

Family History

Northern European descent

34
Q

What are the 7 signs of Hereditary Spherocytosis?

A

Fatigue

Dizziness

RUQ pain due to gallstones

Splenomegaly

Signs of Anaemia (Conjunctival Pallor)

Jaundice/ Neonatal Jaundice

Flow murmur- due to anaemia

35
Q

What are the 5 investigations to be conducted in Hereditary Spherocytosis is suspected?

A

FBC- MCHC is increased, Normocytic anaemia with INCREASED RETICULOSYTE COUNT

Blood film- Spherocytosis

Coomb’s Test- NEGATIVE (positive indicates it is autoimmune)

LFTs- increased bilirubin due to haemolysis

EMA and CRYOHAEMOLYSIS are the DIAGNOSTIC TESTS of CHOICE

36
Q

How do you manage Hereditary Spherocytosis? (4)

A

Phototherapy or exchange transfusion in neonatal jaundice to reduce the BILIRUBIN LEVELS

Blood transfusion to manage ANAEMIA

FOLIC ACID SUPPLEMENTATION

Splentectomy- but vaccinate patients and prescribe PHENOXYMETHYLPENICILLIN to reduce risk of POST-SPLENECTOMY SEPSIS

37
Q

Glucose 6 Phosphate Deficiency is a disease which exclusively happens in males and is similar to Hereditary Spherocytosis

What do they both cause?

What is the diagnostic test and blood film results for Glucose 6 Phosphate Deficiency?

A

They both cause Haemolytic Anaemia and Neonatal Jaundice

In blood film- Bite cells and Heinz bodies seen for G6PD

Diagnostic test for G6PD- G6PD enzyme assay

38
Q

What type of cells are seen in Hodgkin’s Lymphoma but not Non-Hodgkin’s Lymphoma?

A

Reed-Sternberg cells

They are large B cells with Owl’s Eye Nuclei which secrete inflammatory cytokines and attract inflammatory cells which results in B symptoms

39
Q

What are the 5 types of Hodgkin’s Lymphoma?

Give 3 facts about each

A

Nodular Sclerosing (the most common)

  • Seen in young females
  • Cervical or mediastinal (mainly hilar) lymphadenopathy
  • Nodules of Reed-Sternberg cells and lymphoid tissue- separated by SCLEROSIS

Mixed cellularity

  • Linked to EBV infection
  • Abdominal lymphadenopathy
  • Many eosinophils and Reed-Sternberg cells seen

Lymphocyte-rich

  • Cervical or axillary lymphadenopathy
  • Reed-Sternberg cells and REACTIVE LYMPHOCYTOSIS

Lymphocyte-depleted (poor prognosis)

  • Linked to HIV infection
  • Lymphadenopathy below diaphragm
  • Reed-Sternberg cells and decreased number of lymphocytes

Nodular Lymphocyte predominant

  • Reed-Sternberg cells are rarely seen
  • POPCORN CELLS
40
Q

What are the 8 signs of Hodgkin’s Lymphoma?

A

B symptoms (Fever, Weight loss, Night Sweats)

Pel-Ebstein Fever- intermittent fever occurs every few weeks

Alcohol-induced lymph node pain

Pruritus (itchy skin)

Dyspnoea- due to mediastinal lymph nodes

Painless lymphadenopathy (hard, rubbery, fixed)

Splenomegaly (but more common in Non-Hodgkin’s Lymphoma)

41
Q

What are the 3 investigations done for Hodgkin’s Lymphoma?

A

FBC- leukocytosis with pancytopaenia (low RBC, WBC and platelets) if the bone marrow is involved

Excisional lymph node biopsy- diagnostic and shows Reed-Sternberg cells

Reed-Sternberg cells which are CD15 and CD30 positive

42
Q

What is the 3 step management for Hodgkin’s Lymphoma?

A

Chemotherapy (ABVD regimen, BEACOPP regimen)

Radiotherapy (after completing cycles of chemotherapy)

Rituxumab

43
Q

What are the 6 causes of hypercalcaemia?

A

Primary hyperparathyroidism

Malignancy (some cancers like squamous cell lung cancer produce PTH-rp which mimics PTH)

Multiple Myeloma

Granulamatous Diseases (TB and Sarcoidosis)- granulomas activate vitamin D

Dehydration

Drugs (4) (Thiazide diuretics, Lithium, Excessive Vitamin A and D intake)

44
Q

What are the 5 causes of hypocalcaemia?

A

Primary hypoparathyroidism

Chronic Kidney Disease (due to decreased vitamin D activation)

Vitamin D deficiency

Pancreatitis

Drugs (3) (Bisphosphonates, Phenytoin, Loop Diuretics)

45
Q

What are the 4 symptoms of Hypercalcaemia?

A

Bone pain

Renal Stones

Confusion and Depression

Abdominal pains (nausea and vomiting)

46
Q

What are the 4 symptoms of Hypocalcaemia?

A

Numbness and tingling

Tetany

Chvostek’s sign- tapping on the facial nerve causes facial muscles to contract

Trousseau sign- Inflating BP cuff causes tetany in hand muscles

47
Q

What 4 investigations should be done if Hypercalcaemia or Hypocalcaemia is suspected?

A

ECG- shortened QT interval in hypercalcaemia and long QT interval in hypocalcaemia

PTH

Vitamin D

U and Es- Chronic Kidney Disease (Consider urine/ serum osmolality in Hypercalcaemia)

48
Q

What are the 2 treatments for Hypercalcaemia and Hypocalcaemia?

A

Hypercalcaemia-

  • Aggressive IV fluids
  • IV Bisphosphonates if no response to fluids

Hypocalcaemia-

  • Calcium replacement- orally or with Calcium Gluconate
  • Treat the cause
49
Q

What is the pathophysiology of Multiple Myeloma?

A

It is the malignant monoclonal proliferation of plasma cells in the bone marrow resulting in the production of any monoclonal proteins such as immunoglobulins (IgA and IgG) and free light chains

So the malignant cell here is the PLASMA CELL

The light chains form amyloid proteins and this leads to amyloidosis

CRAB

Hypercalcaemia- the neoplastic cells release cytokines which activates osteoclasts via the RANK RECEPTOR. This leads to bone resorption, resulting in bone pain and lytic lesions on imaging

Renal insufficiency- the deposition of the light chains (Bence Jones Proteins) in the kidney tubules affecting renal function. Nephrocalcinosis (deposition of calcium in the kidney) causes renal failure

Anaemia (bone marrow infiltration by plasma cells results in reduced haematopoeisis and anaemia as well as thrombocytopaenia and leukopaenia)

Bone lesions (caused by osteoclast activation)

50
Q

What is the main risk factor for Multiple Myeloma?

A

Having Monoclonal Gammopathy of Uncertain Insignificance (MGUS) (which is when there is les than 10% plasma cells)

51
Q

What are the 7 signs of Multiple Myeloma?

A

Always consider it in elderly patients presenting with bone pain

C.R.A.B. symptoms

Hypercalcaemia (5)

  • Bone pain (back pain most common)
  • Renal stones and renal colic
  • Abdominal pains and constipation
  • Thrones- urinary frequency
  • Confusion, depression psychosis

Amyloidosis (3)

  • Macroglossia
  • Carpal Tunnels Syndrome
  • Peripheral neuropathy

Anaemia-
- Fatigue and pallor

Thrombocytopaenia (due to bone marrow crowding)
- bleeding and bruising

Recurrent infections

52
Q

What 9 investigations should be conducted if Multiple Myeloma is suspected?

A

Whole Body MRI is first line

CT is second line

Urine electrophoresis- Bence Jones protein

Serum electrophoresis- Paraprotein Band or M spike

FBC- anaemia due to disrupted erythropoeisis

Blood film- erythrocytes stack in ROULEAUX FORMATION

U&Es- renal failure

Bone profile- Hypercalcaemia and raised ALP

X-ray- Raindrop skull (NOT PEPPERPOT SKULL SEEN in HYPERPARATHYROIDISM)

53
Q

What are the three diagnostic criteria of Multiple Myeloma?

A

Bone marrow plasma cells at 60% or higher

More than 1 focal lesion on MRI

or C.R.A.B.

54
Q

How do you manage Multiple Myeloma?

A

If less than 70 years old-

  • Bortezomib and Dexamethasone, with or without Thalidomide
  • Followed by stem cell transplantation

If more than 70 years old-
- Bortezomib, Prednisolone and Melphalan

Monitoring-
- Bisphosphonates- ZOLEDRONATE is first line

55
Q

What is the pathophysiology of Polycythaemia?

A

A mutation in the JAK2 gene which encodes the enzyme Janus Kinase- which controls myeloproliferation. This causes haematopoeitic cells to respond more to growth factors.

This leads to an increased amount of red blood cells, neutrophils and platelets

56
Q

What is the main risk factor for Polycythaemia?

A

Budd-Chiari Syndrome
- This is the obstruction of the hepatic veins that normally drain the liver- commonly caused due to thrombosis

HALF of the patients with Budd-Chiari develop Polycythaemia

57
Q

What are the 7 signs of Polycythaemia?

A

Pruritus (made worse by hot water)

Palmar Erythema

Headache

Splenomegaly

Erythromelalgia (burning pain in extremities)

Facial Flushing

Plethoric Appearance (excessively full of body fluid)

58
Q

What 6 investigations should be done if Polycythaemia is suspected?

A

FBC (2)- Elevated Hb and Elevated Haematocrit

U&Es and LFTs- As Renal and Hepatic Disease can cause Secondary Polycythaemia

ABG- PO2 is Normal in Polycythaemia, PO2 is REDUCED in Secondary Polycythaemia due to Respiratory Causes

Ferritin- as Iron Deficiency Anaemia can mask Polycythaemia

Erythropoeitin- low in Primary and raised in Secondary

Look for JAK 2 mutation

59
Q

What is the management plan for Polycythaemia? (3)

A

Aspirin given for ALL PATIENTS

Venesection

Hydroxyurea (if>60 years old or if there is a risk of thrombosis)

60
Q

What is the pathophysiology of Sickle Cell Anaemia?

A

It is as a result of an autosomal recessive mutation in the beta chain of haemoglobin, which results in the sickling of RBCs and haemolysis

There is NO HbA in Sickle Cell Disease

61
Q

What is the main risk factor for Sickle Cell Anaemia?

What are the 4 main triggers?

A

Being of Sub-saharan African descent

4 Triggers-

  • Dehydration
  • Acidosis
  • Infection
  • Hypoxia
62
Q

What are the 6 chronic symptoms of Sickle Cell Anaemia?

A

Pain

Fatigue

Dizziness

Palpitation

Jaundice

Gallstones

63
Q

What are the 3 Sickle Cell Anaemia Crises and what are 3 facts about each crisis?

A

Sequestration Crisis-

  • RBCs sickle in the spleen, causing pooling of blood and a RAPID DROP in Hb and PLATELETS
  • Abdominal Pain- secondary to the massive SPLENOMEGALY- possibly with HYPOVOLAEMIC SHOCK
  • Repeated episodes of this lead to (3)- Splenic Infarction, Fibrosis and Atrophy

Aplastic Crisis-

  • Infection with the Parvovirus B19- which causes BONE MARROW SUPPRESSION
  • Sudden Onset (3) Pallor, Fatigue and Anaemia
  • NO SPLENOMEGALY and ANAEMIA has REDUCED RETICULOCYTE COUNT

Vaso-occlusive Thrombotic Crisis-

  • Vaso-occlusive episodes occur in several organs
  • Stroke
  • Dactylitis
64
Q

What 2 investigations are conducted if Sickle Cell Anaemia is suspected?

A

Guthrie Heel Prick in newborns

FBC- NORMOCYTIC ANAEMIA with RETICULOCYTOSIS (reduced RETICULOCYTES in Aplastic Crisis)

65
Q

What is the 9 step approach to treating Sickle Cell Anaemia?

A

Analgesia- with Opiates or Patient-controlled analgesia

Hydration- Dehydration can precipitate sickling so it is important to keep patients well hydrated

Oxygen- if hypoxic

Antibiotics- if evidence of infection

Transfusion- if they are going through a life-threatening crisis such as STROKE

Hydroxycarbamide- to INCREASE the levels of HbF

Folic Acid supplementation

Lifelong Phenoxymethylpenicillin as patients are at risk of infection

Pneumococcal vaccination every 5 years and annual Influenza vaccination

66
Q

What are the HbA, HbA2 and HbF levels in Alpha and Beta Thalassaemia?

A

Alpha Thalassaemia-
- Reduced HbA, HbA2 and HbF

Beta Thalassaemia

  • HbA is reduced
  • HbA2 and HbF are increased
67
Q

What kinds of tetramers are present in Alpha Thalassaemia?

A

HBH-Beta chain tetramers

68
Q

What is the presentation for Beta Thalassaemia Major, Intermedia and Trait

A

Major-

  • Children< 2 years old
  • Hepatosplenomegaly
  • Microcytic anaemia (HbA absent)

Intermedia- variable presentation

Trait-

  • Adults
  • Often Asymptomatic or just present with Anaemia symptoms (Microcytic Anaemia)
69
Q

What are the 7 signs of Thalassaemia?

A

(Patients usually asymptomatic if adults)

Anaemic Symptoms

Shortness of breath/ Fatigue

Failure to Thrive

Hepatosplenomegaly

Neonatal JAUNDICE

Blood-transfusion dependence

Chipmunk faces- EXTRAMEDULLARY HAEMATOPOEISIS in the skull causes MARROW EXPANSION

70
Q

What are the 4 investigations conducted if Thalassaemia is suspected?

A

Hb ELECTROPHORESIS is Diagnostic-

  • Alpha Thalassaemia- HbH is present
  • Beta Thalassaemia- Reduced HbA and Elevated HbA2

FBC (Microcytic Anaemia with Reticulocytosis)- as the marrow compensates and tries to produce more erythrocytes

Blood film- Microcytic Hypochromic Erythrocytes and Nucleated RBCs (Howell-Jolly bodies)

Skull Xray- Hair on end appearance in Beta Thalassaemia Intermedia and Major due to Marrow Hyperplasia

71
Q

What is the management for Alpha and Beta Thalassaemia Trait?

A

These subtypes cause MILD ANAEMIA and do not require treatment

72
Q

What are the 5 steps for treatment for HbH (Alpha Thalassaemia) and Beta Thalassaemia Major?

A

Regular blood transfusions may be required and are commenced if Hb<70 or if patient is symptomatic

Iron chelation with Desferrioxamine- to prevent IRON OVERLOAD in patients who have transfusions

Folate Supplementation- as haemolysis leads to an increased cell turnover and a state of FOLATE DEFICIENCY

Splenectomy if they have a MASSIVE SPLENOMEGALY

Stem Cell Transplantation is the only curative option but is only done in the most SEVERE cases

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