Haemolytic Anaemias 2

Question 1

Hereditary spherocytosis inheritance pattern?

Answer 1

Autosomal dominant

Question 2

Hereditary spherocytosis pathophysiology?

Answer 2

Spectrin or ankyrin deficiency (membrane proteins)

Question 3

Diagnosis of Hereditary spherocytosis?

Answer 3

spherocytes, osmotic fagility (lyse in hypotonic solution), flow cytometry

Question 4

Treatment of Hereditary spherocytosis?

Answer 4

Splenectomy

Folic Acid

Question 5

Inheritance pattern of Hereditary elliptocytosis?

Answer 5

Autosomal dominant - spectrin mutation

Question 6

Inheritance pattern of G6PD Deficiency?

Answer 6

X-Linked Commonest RBC enzyme defect

Prevalent in malaria zones

Question 7

Diagnosis of G6PD Deficiency?

Answer 7

Enzyme assay 2-3 months after crisis

Crisis - rapid anaemia and jaundice, Bite cells and Heinz bodies

Question 8

Precipitants of G6PD Deficiency?

Answer 8

Oxidants: Drugs, broad beans, acute stressors, moth balls, infection

Question 9

Treatment of G6PD Deficiency?

Answer 9

Avoid precipitants
Transfuse if severe
Genetic Screening

Question 10

Inheritance pattern of Pyruvate Kinase Deficiency?

Answer 10

Autosomal recessive

Question 11

Clinical Features of Pyruvate Kinase Deficiency?

Answer 11

Severe neonatal jaundice
Splenomegaly
Haemoytic Anaemia

Question 12

Treatment of Pyruvate Kinase Deficiency?

Answer 12

Most untreated
Blood Transfusion
Splenectomy

Question 13

Inheritance pattern of Sickle Cell Disease?

Answer 13

Autosomal Recessive

Question 14

Mutation of Sickle Cell Disease

Answer 14

Single base
GAG => GTG
Glu => Val
codon 6 of Beta Chain
HbS instead of HbA

Question 15

4 Types of Sickle Cell and severity

Answer 15

Hb SS - Severe
HbAS - Trait - usually asymptomatic
HbSC - One HbS one HbC (Defective B chain)
HbS/Beta - One HbS one Thalassaemia

Question 16

What triggers the sickling?

Answer 16

Lowered O2 Tension - HbS polymerisation - sickling

Question 17

Features of Haemolysis in Sickle Cell Disease?

Answer 17

Anaemia 6-8g/dL
Splenomegaly
Folate Deficiency
Gallstones
Aplastic Crisis

Question 18

Features of Vaso-Occlusion in Sickle Cell Disease?

Answer 18

SICKLED
Stroke
Infarctions (Hyposlenism, CKD)
Crises (Splenic, sequestration, chest and pain)
Kidney (Papillary necrosis, nephrotic syndrome)
Liver (gallstones)
Eyes (Retinopathy)
Dactilitis (Impaired growth)
Mesenteric Ischaemia
Priapism

Question 19

Diagnosis of Sickle Cell Disease?

Answer 19

Sickle and target cells on blood film
Sickle solubility test
Hb Electrophoresis
Guthrie test - pneumococcal prophylaxis

Question 20

Treatment of Sickle Cell Disease?

Answer 20

Analgesia
Folic Acid
Penicillin V
Pneumovax
HiB vaccine
Hydroxycarbamide
carotid Doppler monitoring
Prophylactic exchange transfusion if turbulent

Question 21

Pathophysiology of Thalassaemia?

Answer 21

Unbalanced Hb synthesis - unmatched chains precipitate - haemolysis and ineffective erythropoiesis

Question 22

Signs in Beta THalassaemia?

Answer 22

Skull Bossing
Maxillary Hypertrophy
Hairs on end Skull x-ray
Hepatosplenomegaly

Question 23

Diagnosis of Beta Thalassaemia

Answer 23

Hb Electrophoresis

Guthrie at birth

Question 24

Treatment of Beta THalassaemia

Answer 24

Blood transfusions
Desferrioxamine to stop iron overload
Folic acid

Question 25

How many alpha chains are there and what happens to them in alpha thalassaemia?

Answer 25

``` 4 chains Deleted 2/4 - trait - asymptomatic, mild anaemia 3/4 - Moderate anaemia, splenomegaly 4/4 - Hydrops fetalis - incompatible with life ```

Question 26

Immunoglobulin in WAIHA

Answer 26

IgG

Question 27

Blood film findings in WAIHA

Answer 27

Spherocytes

Question 28

Causes of WAIHA

Answer 28

Primary Idiopathic | Lymphoma, CLL, SLE, Methyldopa

Question 29

Management of WAIHA

Answer 29

Steroids Splenectomy Immunosupperssion

Question 30

Immunoglobulin in Cold Agglutinin Disease

Answer 30

IgM

Question 31

Condition associated in Cold Agglutinin Disease

Answer 31

Raynaud's Phenomenon

Question 32

Diagnostic test for Autoimmune Haemolytic Anaemia

Answer 32

Direct Antiglobulin Test (DAT/Coombs Test)

Question 33

Causes of Cold Agglutinin Disease

Answer 33

Primary idiopathic Lymphoma Infections: EBV, mycoplasma

Question 34

Management in Cold Agglutinin Disease

Answer 34

Treat underlying condition Avoid the cold Chlorambucil (chemo)

Question 35

Cause and symptoms of PCH

Answer 35

Viral Infection | Haemoglobin in Urine: measles, syphilis, VZV

Question 36

Pathophysiology of PCH

Answer 36

Donath-Landsteiner Antibodies - stick to RBCs in cold, complement-mediated haemolysis on rewarming

Question 37

Immunoglobulin in PCH

Answer 37

IgG | Self-limiting - dissociate at higher temp than IgM

Question 38

Name 3 Auto Immune Haemolytic Anaemias

Answer 38

WAIHA Cold-Agglutinin PCH

Question 39

Name 2 Non-immune Haemolytic Anaemias

Answer 39

Paroxysmal Nocturnal Haemoglobinuria | Microangiopathic Haemolytic Anaemia (MAHA)

Question 40

Pathophysiology of PNH

Answer 40

Acquired loss of surface GPI markers on RBCs - complement mediated lysis - chronic IV haemolysis

Question 41

Features of PNH

Answer 41

Morning haemoglobinuria | Thrombosis (Budd-Chiari)

Question 42

Diagnosis of PNH

Answer 42

Immunophenotype - altrered GPI | Ham's Test - in-vitro acid induced lysis

Question 43

Treatment of PNH

Answer 43

Iron/Folate supplements Prophylactic vaccines/ Abx Monoclonal antibodies (eculizumab) - stops complement from binding to RBCs

Question 44

Pathophysiology of MAHA

Answer 44

Mechanical RBC destruction - forced through fibrin/plt mesh | Schistocytes

Question 45

Causes of MAHA

Answer 45

Haemolytic Uraemic Syndrome Throbotic THrombocytopenic Purpura DIC Pre-Eclampsia

Question 46

Treatment of MAHA

Answer 46

Plasma Exchange

Question 47

Pentad of TTP

Answer 47

MAHA, Fever, Renal Impairment, Neuro abnormalities, Thrombocytopenia

Question 48

Cause of TTP

Answer 48

Autoimmune platelet activation

Question 49

Cause of HUS

Answer 49

E. Coli - Toxin damage to endothelial cells - Fibrin mesh and RBC damage - Impaired renal function - MAHA

Question 50

Symptoms of HUS

Answer 50

Diarrhea, Renal failure, no neuro problems | Children and Elderly