Case 11- Anaemia Flashcards
General management of sickle cell anaemia
Avoid dehydration/ other triggers
Ensure vaccines up to date (flu and pneumococcal)
Antibiotic prophylaxis
Hydroxycarbamide- stimulates production of foetal Hb
Blood transfusion if severe anaemia
Exchange transfusion during acute crises
Bone marrow transplant can be curative
Signs and symptoms of anaemia
Fatigue, dyspnoea, faintness, palpitations, headache, tinnitus, angina, conjunctival pallor, SOB on exertion, atrophic glossitis, angular stomatitis, koilonychia, hair loss
Use osce stop when doing anaemia
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Anaemia of chronic disease vs iron deficiency anaemia
Hb- low in both
Ferritin: low in iron deficiency , normal/high in ACD
Serum Iron: low in both
Transferrin saturation: low in both
Total iron binding capacity- high IDA, low AOCD
Blood film findings
Sickle cells
Schistocytes- microangiopathic haemolytic anaemia (HUS/ TTP)
Inclusion bodies- malaria
Spherocytes/ elliotocytes- hereditary spherocytosis/ elliptocytosis
Heinz bodies/bite and blister- G6PD deficiency
Prickle cells- autoimmune haemolytic anaemia
Acanthocytes- splenectomy/ ALD
Blast cells- leukaemia, haematological malignancy
Howell jolly bodies- post splenectomy and hyposplenism: sickle cell, coeliac disease, IBD
Tera drop poikilocytes- Myelofibrosis
Reticulocytes- haemolysis, haemorrhage
Target cells- have a ring of pallor. Liver disease, hyposplenism, thalassaemia
Aplastic anaemia
Pancytopenia and hypoplastic bone marrow
Peak incidence- 30 years
Causes of aplastic anaemia
Idiopathic
Congenital eg. Fanconi anaemia
Drugs- cytotoxic, chloramphenicol, sulphonamides, phenytoin, gold, benzene
Infection
Radiation
Autoimmune haemolytic anaemia
Divided into warm or cold depending on what temperature the antibodies cause haemolysis
Mostly idiopathic but can be secondary to infection, drugs, lymphoproliferative disorder
Characterised by a positive Coombs test (direct antiglobulin)
Warm autoimmune haemolytic anaemia (AHA)
IgG
Occurs in the spleen
Causes
-SLE
-neoplasia eg. Lymphoma, CLL
-methyldopa
Steroids, immunosuppression, splenectomy
Cold AIHA
IgM
Complement
Raynauds and acrocyanosis
Causes
-neoplasia (lymphoma)
-infection (mycoplasma, EBV)
Fanconi anaemia
Haem- aplastic anaemia, AML
Neuro abnormalities
MSK- short stature, radial abnormalities
Cafe au lair spots
Features of GPD6 deficiency
Haemolytic anaemia- neonatal jaundice
Gallstones
Splenomegaly
Heinz bodies and bite and blister cells seen on blood film
NB- difference with hereditary spherocytosis is the cells seen on a blood film
Diagnosing GPD6 deficiency
GPD6 enzyme assay 3 months after an acute episode of haemolysis
GPD6 haemolytic crisis precipitants
Infection
Beans
Drugs- anti malarials eg. Primaquine, cirpofloxacin, sulph drugs eg. Sulphonamides, sulfonylureas (glicazide), sulphasalazine
NB- Heinz bodies
Iron deficiency Anaemia investigations
FBC
Iron studies (serum ferritin low (but it’s an inflammatory protein so may be raised), TIBC high, transferrin saturation low)
Blood film- target cells, pencil poikilocytes, anisopoikilocytosis (red blood cells of different shapes and sizes)
Endoscopy- males and post menopausal females who present with iron deficiency anaemia (2 week wait for endoscopy)- urgent
Management of iron deficiency anaemia
Manage underlying cause
Iron rich diet- dark green leafy vegetables, meat, iron fortified bread
Oral ferrous sulphate- keep taking for 3 months after it has been corrected. SE’s include nausea, abdominal pain, constipation, diarrhoea, black stool
Paroxysmal nocturnal haemaglobinuria
Acquired disorder leading to haemolysis of any cells
Features and diagnosis of PNH
Haemolytic anaemia
Pancytopenia
Haemaglobinuria esp. in morning
Thrombosis eg. Budd chiari syndrome
Aplastic anaemia
Flow cytometry (CD59/ CD55)
Management of PNH
Blood product replacement
Anticoagulation
Stem cell transplantation
Causes of sideroblastic anaemia
Myelodysplasia
Alcohol
Lead
Anti TB medications
Investigations for sideroblastic anaemia
FBC- microcytic anaemia
Iron studies- high ferritin, iron, transferrin saturation
Blood film- basophilic stippling of RBC’s
Bone marrow- Prussian blue staining will show ringed sideroblasts
Sickle cell disease
Autosomal recessive haemolytic anaemia which predisposes to vasculo-occlusive crises
Features of sickle cell disease
General- dactylitis, chronic haemolytic anameia (fatigue, pallor, weakness)
Vasculo-occlusive crises- bone, abdominal or chest pain. Ulcers and a vascular necrosis. Triggered by cold, dehydration, hypoxia, or infection.
Aplastic crisis- parvovirus B19 (pancytopenia)
Sequestration crises- pooling of blood in liver, spleen causing organomegaly (but spleen may also be atrophied due to repeated splenic infarcts)
Treatment of a sickle cell crisis
analgesia e.g. opiates
rehydrate
oxygen
consider antibiotics if evidence of infection
blood transfusion
-indications include: severe or symptomatic anaemia, pregnancy, pre-operative
-does not rapidly reduce the percentage of Hb S containing cells
exchange transfusion
-indications include: acute vaso-occlusive crisis (stroke, acute chest syndrome, multiorgan failure, splenic sequestration crisis
-rapidly reduces the percentage of Hb S containing cells
Investigations for sickle cell anaemia
Usually picked up with the newborn heel prick test
FBC- anaemia, LFT, UE, blood film (sickle shaped RBC’s, Howell jolly bodies)
Haemaglobin electrophoresis (definitive diagnosis)
Features of Thalassaemia
Haemolytic anameia (RBC’s are fragile and breakdown easily)
Microcytic anaemia, fatigue, pallor, jaundice, gallstones, Splenomegaly, poor growth and development, pronounced forehead and malar eminences
Investigations for Thalassaemia
FBC (microcytic anaemia), blood film
Haemoglobin electrophoresis
Alpha Thalassaemia
Blood transfusions
Splenectomy
Bone marrow transplant may be curative
Beta Thalassaemia major
Failure to thrive
Regular transfusions
Splenectomy
Bone marrow transplant may be curative
Iron overload in Thalassaemia
As a result of faulty RBC’s, recurrent transfusions, increased iron absorption in response to the anameia
Patients have serum ferritin checked regularly
Management involves limiting transfusions and iron chelation
Features of iron overload
Like haemachromatosis;
Fatigue, cirrhosis, infertility, impotence, heart failure, arthritis, diabetes, osteoporosis, joint pain
Desferrioxamine may help
B12 deficiency
Anaemia symptoms eg. Breathlessness
Peripheral neuropathy with numbness or Parasthesia
Mood or cognitive changes
Visual changes
Loss of vibration sense or proprioception
Subacute spinal cord degeneration
Investigations for B12 deficiency
FBC, blood film
Serum B12
Intrinsic factor antibody (gold standard)
Investigating haemolytic anaemia
Urinalysis- haemaglobinuria
FBC, UE, LFT, serum bilirubin, LDH, blood film
Coombs test (autoimmune)
Hb electrophoresis
Osmotic fragility testing
Enzyme assays
What is hereditary spherocytosis
Most commonly hereditary haemolytic anaemia in people on Northern European descent
Autosomal dominant
Sphere shaped RBC
Spleen destroys RBC’s- get Splenomegaly over time
Presentation of HS
Failure to thrive, jaundice, gallstones
Splenomegaly, aplastic crisis precipitated by parvovirus infection
Degree of haemolysis variable
Diagnosis and Management of HS
Acute haemolytic crisis- supportive, transfusion
Long term treatment- folate replacement, splenectomy
Diagnosis- EMA binding, cryohaemolysis test, electrolysis may also be used
G6PD deficiency vs HS
Male vs male/female
African and Mediterranean vs Northern European
Intravascular vs extra vascular haemolysis (hence splenomegaly and possible splenectomy)
Heinz bodies in G6PD
High reticulocyte count in sickle cell anaemia
Possible due to haemolytic crisis or acute sequestration
NB- low reticulocytes- think parvovirus
Sequestration crisis
sickling within organs such as the spleen or lungs causes pooling of blood with worsening of the anaemia
associated with an increased reticulocyte count
Aplastic crisis
caused by infection with parvovirus
sudden fall in haemoglobin
bone marrow suppression causes a reduced reticulocyte count
Blood film for hyposplenism/splenectomy
Acanthocytes (S/H)
Howell jolly (S/H)
Target cells (H)
Beta thalassaemia trait
Beta-thalassaemia trait is an autosomal recessive condition characterised by a mild hypochromic, microcytic anaemia. It is usually asymptomatic
Features
mild hypochromic, microcytic anaemia - microcytosis is characteristically disproportionate to the anaemia
HbA2 raised (> 3.5%)
