Anaemia

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Anaemia
Fe
Deficiency
Aetiology: GI / GU blood loss; malabsorption; pregnancy; dietary
Investigations: : TIBC, transferrin
: ferritin, iron, Hct (occurs late)
MCV: Hb 10:1
Management: IV iron if severe anaemia not requiring blood transfusion, or unable to tolerate PO
Thalassaemia
Aetiology: normal globin chains produced at decreased rate  haemolysis
Alpha: more common in SE Asia; HbBarts (4  intrauterine death); HbH (3  moderate disease);
trait (2  asymptomatic)
Beta: more common in Europe; hetero  minor (asymptomatic); homo  major; more
symptomatic than alpha
Symptoms: iron overload (hepatosplenomegaly, cardiac disease); pathological #; bone
deformities; paraspinal masses; endocrine failure; recurrent infections
Investigations: : reticulocytes, erythroblasts, HbF (>90%)
Normal: RBC count
: MCH; Hb (3-9)
Poikilocytosis, anisocytosis,  number of erythroid precursors on bone marrow
biopsy; nucleated RBC’s; basophilic stippling; target cells
Management: treat iron overload with desferrioxamine; stem cell transplant; often require
transfusions
Microcytic
MCV <80
 RDW
Sideroblastic
Macrocytic
Aetiology: hereditary ; lead poisoning; ETOH; myelodysplastic / myeloproliferative disease
Investigations: : iron; ferritin (may be normal)
Normal: iron binding capacity
Sideroblasts in bone marrow
Management: pyridoxine trial 2-3/12
Multiple
Myeloma
Investigations: : globulins
Anaemia
of
Chronic
Disease
Aetiology: hypothyroidism; vitamin C deficiency
Investigations: normal: ferritin
: RBC count
Vitamin
B12 Deficiency
Aetiology: pernicious anaemia (autoantibodies to parietal cell and intrinsic factor  
production of intrinsic factor, prevent formation of complex; mean onset 60yrs); gastrectomy;
gastric atrophy; ileal disease; pancreatic disease; malabsorption (most common cause);
repeated and prolonged exposure to nitric oxide; associated with autoimmune thyroiditis,
Graves, Addisons, primary hypoparathyroidism, vitiligo, myasthenia gravis
Symptoms: dementia, psychosis, peripheral neuropathy, subacute degeneration of the spinal cord
(occurs faster if only folate supplementation; due to demyelination; affects posterior and lateral
columns); abnormal gait; gastric adenocarcinoma; carcinoid; achlorhydria; painful smooth
tongue
Investigations: : LDH
: B12; WBC; platelets; holotranscolabalmin
Antiparietal cell and intrinsic factor antibodies; hypersegmented neutrophils;
stippling of red cells; Howell Jolly bodies; Schilling test ( urinary B12 that is 
by giving intrinsic factor)
Management: vitamin B12 injections; high dose PO vitamin B12
MCV
>100
Folate
Deficiency
Aetiology: dietary (most common; especially in alcoholics); malabsorption;  demand
(pregnancy, cancer, psoriasis); dihydrofolate reductase inhibitors (eg. Methotrexate,
trimethoprim); phenytoin; sodium valproate
Investigations: : RDW (increases early and shows there’s a variety in size of RBC’s)
: folate
Management: 5mg folate OD; vitamin B12 if deficiency suspected
Macrocytic
(cntd)
Other
Aplastic
Anaemia
Aetiology: especially in SE Asia; cause by stem cell loss; idiopathic (50-65%); Fanconi’s syndrome
(autosomal recessive); radiation; chloramphenicol, gold, sulphur durgs, chlorpromazine,
streptomycin; viral infections (eg. Hepatitis); SLE; pregnancy; GVHD
Symptoms:  tissue oxygenation; immunocompromise; bleeding; fatigue; weakness; no
splenomegaly
Investigations: : reticulocytes; WBC; platelets
Hypocellular bone marrow; becomes macrocytic after time
Management: supportive; antibiotics; blood products; immunosuppression; G-CSF
Anaemia
of
Chronic
Disease
Aetiology: most common cause of normochromic; due to  hepcidin,  erythropoietin, inhibited
marrow proliferation; altered Fe distribution;  RBC life span;  reticulo-endothelial activity;
rheumatoid arthritis; CRF; cancer; connective tissue disorders
Investigations: : ferritin
Normal: reticulocytes and RDW
: Fe; transferrin; TIBC
Management: blood transfusion; consider Fe; erythropoeitin
ARF
Normochromic
Alcoholism; chronic liver disease; hypothyroidism; congenital cyanotic heart disease;
myelodysplastic syndromes; megaloblastic reticulocytosis
Investigations: Normal reticulocytes and RDW
Spherocytosis
Aetiology: defect in membrane froteins (spectrin)   deformability  haemolysis
Symptoms: usually asymptomatic; moderate splenomegaly (50% young children; 85% adults);
jaundice; gallstones (5% children, 50% adults); haemolytic crises (usually during infections, mild);
aplastic crises; leg ulcers; spinal cord lesions
Investigations: : RDW
: MCHC (in 50%)
Spherocytes;  osmotic fragility; variable degree of anaemia; Coombs negative;
haemolysis screen = haptoglobins, LDH, Coombs, unconjugated and conjugated
bilirubin; features of haemolysis +; urinary urobilinogen
Management: splenectomy; cholecystectomy
Elliptocytosis
As per spherocytosis
G6PD
Deficiency
Aetiology: X-linked inherited; more common in males; black; due to oxidative stress 
haemolysis; triggered by infection, sulphonamides, nitrofurantoin, antimalarials, vitamin K,
aspirin
Symptoms: splenomegaly; neonatal jaundice; gallstones
Investigations: features of haemolysis; G6PD assay
PK Deficiency
Aetiology: autosomal recessive  haemolysis
Investigations: features of haemolysis
Management: partial response to splenectomy
MCV 80100
Acquired
AutoImmune
Haemolytic
Aetiology: extravascular haemolysis due to type II hypersensitivity reaction causing RBC to be
destroyed in reticuloendothelial system
Warm: autoantibody vs igM on RBC in peripheries; due to lymphoproliferative infections (eg.
Mycoplasma)
Cold: autoantibody vs IgG / complement / both on RBC; 50% idiopathic; 50% secondary
(lymphoproliferative, post-infection, autoimmune, neoplasm, connective tissue disorder,
methyldopa, penicillin)
Symptoms: splenomegaly; symptoms more common in warm; in cold also get Reynaud’s disease,
livedo reticularis, worse in winter
Investigations: features of haemolysis;  platelets, WBC; Coomb’s positive
Normochromic
(cntd)
MCV 80100
Sickle
Cell
Disease
Aetiology: autosomal recessive; account for 70% congenital Hb disorders; especially in Black
(occurs in 8%), Middle East, Indian; Defect in Hb production (valine/glycine)  HbS 
polymerization when low NO concentration  damage to membrane  haemolysis, 
intracellular calcium, rigid RBC’s, activation of thrombosis
Triggers: hypoxia, acidosis, 2,3,DPG, vascular stasis, IV volume depletion, infection, dehydration,
altitude, cold
Symptoms: Onset after 6 months (when HbF gone); Arthralgia, dactylitis (most common
presentation <2yrs; periosteal elevation on XR, painful swelling); bone thinning; CCF; murmurs in
80%; Jaundice, gallstones, abdominal pain, Hepatosplenomegaly (spleen small in adulthood due
to recurrent infarction; functional asplenia); incr bil; jaundice; gallstones; Leg ulcers; Sepsis is
most common cause of death in children, especially strep pneumoniae
Vasoocclusive crises (MS, GI, RS, CNS, renal), CVA, pulmonary infarction; acute chest syndrome
Haematologic crises (splenic sequestration – 2nd most common cause of death, aplastic,
infectious)
Investigations: features of haemolysis;  platelets, LFT’s; Hb 6-9; HbF 2-20%; RBC survival 1020/7 (instead of 120); reticulocytes 5-15%; Haematuria; Sickle cells; Howell Jolly bodies
Management: see Dunn
Mechanical
Trauma
Aetiology: intravascular haemolysis (eg. March Hburia, cardiac valve, IABP)
Investigations: features of haemolysis
Paroxysmal
Nocturnal
Hburia
Aetiology: Intravascular haemolysis; Deficiency of membrane proteins  injury to bone marrow
stem cell pool  autoimmune lysis of RBC, WBC + platelets; functional WBC defect
Symptoms: Predisposition to thrombosis (venous thrombosis in 20%, often proximal); 5% become
AML
Investigations: features of haemolysis;  WBC, platelets, iron; Hburia; urinary Fe; acidosis
Management: immunosuppression; bone marrow transplant may be curative
Other
Haemolysis
Aetiology: Infections: Clostridia, CMV, coxsackie, EBV, haemophilus, herpes simplex, HIV,
malaria, measles, mycoplasma, varicella, IMN; Drugs: antimalarials, arsenic, bites, copper, lead,
LA, nitrates, sulfonamides, ceftriaxone; Autoimmune: incompatible b/ transfusion, SLE,
rheumatoid arthritis, ulcerative colitis, hepatitis, lymphoma, CLL; Haemolytic disease of the
newborn: Rh of mother crosses placenta; need anti-D
Investigations: features of haemolysis
: LDH, unconjugated bilirubin, reticulocytes, mild MCV, RDW, urobilinogen,
faecal stercobilinogen
: haptoglobin
Heinz bodies
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