Haematological conditions and malignancies. Contains information about clinical features of each condition, as well as relevant diagnostic tests and investigations, risk factors, causes and management guidelines.
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,IRON DEFICIENCY ANAEMIA
CLINICAL SIGNS PATHOPHYSIOLOGY
• Fatigue Microcytic anaemia
• Dyspnoea MCV < 78fL
• Faintness
• Palpitations Caused by haem (iron) deficiency
• Headache
• Tinnitus Aetiology
• Anorexia
• Angina [if pre-existing coronary artery • Blood loss; menorrhagia, GI bleeding
disease] • Poor diet, poverty
• Malabsorption
Signs
• Pallor (conjunctival)
• Hyperdynamic circulation in severe anaemia
INVESTIGATIONS
– tachycardia, flow murmurs, cardiac
enlargement, retinal haemorrhage Iron studies
• Heart failure Low ferritin = IDA, serum iron is also low but there are
• Koilonychia other causes of low iron such as acute phase reactions
• Atrophic glossitis and people with chronic disease may have borderline
• Angular cheilosis microcytic anaemia with low serum iron
• Post-cricoid webs • serum iron
• ferritin; also acute phase protein and
increases with inflammation such as
infection/malignancy. Possible to have
normal/high ferritin in IDA – if there is evidence
of acute phase reaction, wait and retest
• transferrin
• May have mild thrombocytosis
MANAGEMENT
Find source of IDA
• Menstruation – menstruating women do not usually require other investigations
• GI losses
• Malabsorption – exclusion of coeliac disease
• All patients apart from menstruating women require upper GI endoscopy and colonoscopy
Management
• Ferrous sulfate/ferrous fumarate
o Continue until FBC has normalised + 3/12
o Hb should rise ~10g/L every 7-10 days
o Failure to respond; non-compliance, continued blood loss, malabsorption, incorrect diagnosis
• Transfusion only indicated in patients with angina, HF, or evidence of cerebral hypoxia
, THALASSAEMIA
CLINICAL SIGNS PATHOPHYSIOLOGY
Major Causes microcytic anaemia due to insufficient globin
• Profound hypochromic anaemia chains [quantitative abnormality]
• Evidence of severe red cell dysplasia Beta thalassaemia = most common thalassaemia, most
• Erythroblastosis prevalent in Mediterranean area
• Absence or gross reduction in haemoglobin Defective production usually results from disabling point
A mutations causing no/reduced beta chain production
• Raised levels of haemoglobin F
• Evidence that both parents have Heterozygotes = thalassaemia minor [usually mild
thalassaemia minor microcytic anaemia and little/no clinical disability]
Minor Homozygotes = thalassaemia major, unable to synthesis
haemoglobin A or produce very little. After first 4-6
• Mild anaemia months of life they develop profound transfusion-
• Microcytic hypochromic erythrocytes (not dependent hypochromic anaemia
IDA)
• Some target cells Alpha thalassaemia = disruption of one/both alleles on
• Punctate basophilia chromosome 16 resulting in production of some/no
• Raised haemoglobin A2 fraction alpha globin chains
Alpha thalassemia – there are two alpha gene loci • Normal Hb = x2 alpha, x2 beta
on chromosome 16, therefore each individual • Hb A2 = x2 alpha, x2 delta
carries 4 alpha gene alleles • Foetal Hb = x2 alpha, x2 gamma
Haemoglobin H is a beta-chain tetramer formed Haemoglobin electrophoresis
from excess of beta chains, which are functionally Possible to identify foetus with homozygous beta-
useless so patients rely on low levels of HbA for thalassaemia by obtaining chorionic villous material for
oxygen transport DNA analysis sufficiently early to allow termination
MANAGEMENT
Cure is now possible for selected children with allogeneic HSCT
• Erythropoietic failure = allogeneic haematopoietic stem cell transplantation from HLA-compatible sibling
• Transfusion to maintain Hb > 100
• Folic acid
• Iron overload – iron therapy contraindication, iron chelation therapy
• If splenomegaly is causing mechanical problems = splenectomy
Treatment of haemoglobin H disease is similar: folic acid supplementation, avoidance of iron therapy and
transfusion as required
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