Haem - General Flashcards
Blood film: microcytic, hypochromic cells with anisocytosis, poikilocytosis and pencil cells
Iron Deficiency anaemia
Signs: Angular cheilosis, brittle hair/nails, Plummer-Vinson syndrome, koilonychia, atrophic glossitis
Iron deficiency anaemia
Blood results: Iron low, Ferritin low, TIBC raised, Saturation low
Iron deficiency anaemia
Blood film: basophilic stippling
Lead poisoning
Blood film: erythroid precursors with iron deposited in mitochondria in a ring around the nucleus, dimorphic RBCs
Sideroblastic anaemia
Blood results: Iron high, TIBC normal, Ferritin high
Sideroblastic anaemia
Blood results: iron high, TIBC low, ferritin high
Chronic haemolysis
Blood film: hypersegmented polymorphs, leucopenia, RBC precursors with immature nucleus and mature cytoplasm, macrocytosis,
Megaloblastic anaemia (B12/folate/cytotoxic drugs)
Mouth: Glossitis, angular cheilosis
Neuropsychiatric: Irritability, depression, psychosis, dementia.
Neurological: Paraesthesiae, peripheral neuropathy (loss of vibration and proprioception first, absent ankle reflex, spastic paraperesis, subacute combined degeneration of spinal
cord)
Vitamin B12 deficiency
Blood results: raised Hb, low haptoglobins, raised LDH, Raised reticulocytes, raised unconjugated bilirubin
+ dark red urine + haem and albumin in urine
Intravascular haemolysis
Blood results: raised Hb, raised LDH, Raised reticulocytes, raised unconjugated bilirubin
+ splenomegaly
Extravascular haemolysis
Aetiology of hereditary spherocytosis
Autosomal dominant
Deficiency in spectrin or ankyrin
Results:
Osmotic fragility test: raised
DAT coombs NEGATIVE
Hereditary spherocytosis
Aetiology of hereditary eliptocytosis
Almost all autosomal dominant
Spectrin mutation
Except for Hereditary Pyropoikilocytosis (erythrocytes are abnormally
sensitivity to heat) – autosomal recessive (small print)
What is the aetiology of Glucose-6-phosphate dehydrogenase (G6PD) Deficiency
X-linked recessive
Blood film: bite cells, heinz bodies (blue deposits, oxidised Hb)
G-6-PD deficiency
Investigations for G6PD deficiency
Film: Heinz bodies (Methyl violet stain) and bite cells
Fluorescent spot test (G6PD and NADP)
Methaemoglobin (Methylene blue)
Guthrie spot
G6PD activity
Blood film: Spherocytes, echinocytes (hedgehog-like)
Pyruvate kinase deficiency
What is Donath-Landsteiner antibodies
stick to RBCs in cold → complement-mediated haemolysis on rewarming (self-limiting as IgG so dissociate at higher temp than IgM).
Ham’s test +ve
Paroxysmal nocturnal haemoglobinuria
Blood film: schistocytes
MAHA
Antibodies against ADAMTS13
Thrombotic thrombocytopenic prupura
aetiology of Paroxysmal nocturnal haemoglobinuria
PIG A
Sickle cell disease aetiology
Autosomal recessive
Glu → Val on codon 6 of beta chain (Chr 11) → HbS
Skull bossing, maxillary hypertrophy, hairs on end skull X-ray
Beta thalassaemia
Blood film:
Teardrop RBCs (+Aniso and poikilocytosis)
Nucleated RBCs
Immature myeloid cells/myelocytes
Leucoerythroblastic anaemia
blood film: heavy toxic granulation of neutrophils, vacuoles seen
Reactive neutrophilia e.g. to infection
Coagulation results: APTT prolonged, PT/INR normal
Haemophilia OR VWD
Results:
Platelets low
Fibrinogen low
High fibrin degradation products/D-dimer
Long PT/INR
DIC
Results:
II, V, VII, IX, X, XI, fibrinogen low
VIII and VWF high
Liver disease
anti cardiolipin, lupus anticoagulant
APLS
BCR-ABL Ph Chr translocation t(9;22)
Chronic myeloid leukaemia
Treatment for CML
- Imatinib
- Other tyrosine kinase inhibitor
- SCT
CD34, CD33/13/117
Acute myeloid leukaemia
Auer rods, sudan black stain, myeloperoxidase stain
Acute myeloid leukaemia
Treatment for acute myeloid leukaemia
- Chemo
- Targeted e.g. anti-CD33 (Gemtuzumab)
- SCT
t(15;17)
Acute promyelocytic leukaemia
PML-RARA
Acute promyelocytic leukaemia
> 20% blasts CD 19, 20, 22, CD34
B cell ALL
> 20% blasts CD 3, 4, 8, CD34
T cell ALL
CD5 + CD 23 +
CLL
Smear cells on blood film
CLL
Staging for CLL
Rai and binet
Binet:
A: <3 lymphoid tissues
B: >3 lymphoid tissues
C: Hb <100, Plt <100 (+ B symptoms)
Rai:
0: lymphocytosis only
1: lymphadenopathy
2: Hepatosplenomegaly
3: Hb <11
4: Platelets <100
Flower cells on blood film
ATLL
IgH-BCL2
Follicular B cell lymphoma
IgH-Cyclin D1
Mantle cell B cell lymphoma
IgH-MYC
Burkitt’s lymphoma
t(14;18)
Follicular lymphoma
Lymph node biopsy: neoplastic follicles, positive CD10 and bcl-2 staining, centroblasts
Follicular lymphoma
Lymph node biopsy: small lymphocytes, arises from naive B cells, CD5 and CD23 positive
Small lymphocytic lymphoma (CLL but in lymph nodes)
Lymph node biopsy: from germinal centre/post-germinal centre, sheets of large lymphoid cells
Diffuse large B cell lymphoma
Lymph node biopsy: mantle zone, arising from pre-germinal centre cells, expression of CD5 and cyclin D1, clefted nuclei
Mantle cell lymphoma
Molecular: t(11;14), cyclin D1 overexpression
Mantle cell lymphoma
CD15, CD30 positive, CD20 negative
Classical Hodgkin’s lymphoma
CD20 positive, CD15, CD30 negative
Nodular lymphocyte predominant lymphoma
Hypercellular marrow, lack of separation between RBCs, ringed sideroblasts, bilobed nuclei, reduced granulation of granulocytes, micro-megakaryocytes with hypolobulated nuclei
Myelodysplasia
Pelger-Huet anomaly
Hyposegmented neutrophils
Myelodysplasia
Short stature, hypogonadism, cafe au lait spots, thumb abnormalities, microcephaly, developmental delay
Fanconi anaemia
Marrow failure
Cancer predisposition
Somatic abnormalities: leukoplakia, nail dystrophy, skin pigmentation
Dyskeratosis congenita
JAK2
Polycythaemia vera
Essential thrombocythaemia
JAK2, calreticulin, MPL
Essential thrombocythaemia
Tear drop poikilocytes
Myelofibrosis
Dry tap bone marrow
Myelofibrosis
Blood transfusion → hypotension + tachy ± laryngeal/facial oedema, wheeze, SOB in minutes
Anaphylaxis
Blood transfusion → restless, chest/loin pain, fever, vomiting, flushing, collapse, haemoglobinuria (later)
ABO incompatibility
Blood transfusion → mild urticarial or itchy rash sometimes with a wheeze
Allergic reaction
Blood transfusion → rise in temperature by around 1 degree, chills and rigors
Non-haemolytic febrile reaction
M-spike <30
BM plasma cells <10%
No CRAB symptoms
Monoclonal gammoglobulinopathy of unknown significance
M spike <30
BM plasma cells >10%
No CRAB symptoms
Shouldering
M spike <30
BM plasma cells >10%
CRAB symptoms
Multiple myeloma
Bence Jones proteins in urine electrophoresis
Multiple myeloma
Dense narrow band on serum electrophoresis
Multiple myeloma
BM plasma cells >60%
Involved:uninvolved ratio >100
>1 focal lesion on MRI >5mm
CD138 +
Myeloma defining events
Hepatosplenomegaly
Lymphadenopathy
Pancytopenia
Hyperviscosity Sc: peripheral neuropathy, visual Sx, headache, bleeding
Waldenstrom’s macroglobulinaemia
Nephrotic syndrome
Heart failure
Sensory neuropathy
Macroglossia
AL amyloidosis
Rash, diarrhoea, jaundice after transplant
Acute GvHD
Rash, hepatitis, dry eyes, dry mouth, mouth ulcers, SOB, arthritis after transplant
Chronic (>100 days) GvHD)
Blood film: Rouleaux
Multiple myeloma
Blood film: Rouleaux
Multiple myeloma