Type

Inheritance Pathogenesis Features Treatment

Iron deficiency Secondary to many diseases Occurs when there is inadequate iron for Clinical: - Find and treat the underlying
anaemia - Limited capacity for ison haemoglobin synthesis - Brittle hair cause
absorption - Presence of depleted iron stores with or - Angular stomatitis - Oral iron
- Loss of iron without functional or health impairment - Glossitis - Paraenteral iron
- Inadequate dietary intake Causes: - Atrophy of tongue papillae
- Increased demand: bleeding, growth - Brittle nails
pregnancy - Koilonychia
- Reduced supply: dietary insufficiency, - Pica
malabsorption Lab results:
Hb
MCV
MCH
- Poikilocytosis RBC of
varying shape
- Anisocytosis RBS of
varying sizes
Serum iron
Total iron binding capacity
(TIBC)
Serum ferritin
Megaloblastic - Congenital enzymes deficiencies in DNA Lab results:
anaemia synthesis Hb
- Drugs interfering in DNA synthesis MCV
- Myelodysplasia due to dyserythropoiesis - Leucopenia and
thrombocytopenia (in severe
cases)
- Oval macrocytes,
anisocytosis, poikilocytosis
- hypersegmented
polymorphonuclears
(immature WBCs)
Vitamin B12 B12 deficiency or its normal Normal function: Clinical features: - Initial: hydroxocobalamin
metabolism - Intrinsic factor: transports B12 to ileum - Gradual and progressive 1mg IM per week x 3 doses
- Transcolbamin II: transports in blood to - Lemon yellow colour - Maintenance:
 bone marrow - Glossitis and angular Hydroxycobalamin 1mg IM
Factors compromising B12: stomatitis every 3 months
- Vegan diet - Neurological changes - Oral preparations:
- Gastrectomy - Peripheral polyneuropathy - 2mg tablet
- Small intestine pathology and can lead to paraplegia - 2 x 1mg tablet sublingual
- Drugs for gastritis, e.g. proton pump (due to defective methylation
inhibitors of myelin)
- Dementia
- Psychological disturbances
Vitamin B9 B9 deficiency or its normal Can be caused by: - Same as B12 clinically but - Treat the underlying cause
metabolism - Alcoholism will not manifest neuropathy - Folate 5mg tablet oral x 4
- Anorexia - Neural tube defects (NTD) in months
- Pregnancy newborn Prophylaxis:
- Old age - Normal pregnancy: 400g
daily throughout pregnancy
- With previous child with
NTD: 5mg daily throughout
pregnancy
- Also given in severe
haemolytic anaemias and
patients on chronic dialysis
Anaemia of Related to causative disease: - Defective release of iron from storage - Blood film: normocytic -Treat the underlying cause
chronic disease pulmonary TB, chronic (high level of hepcidin > decrease iron normochromic (can progress - EPO injections
inflammatory disease, release from macrophage) to microcytic hypochromic) - Non-responsive to iron
malignancy - Reduced RBC lifespan - Serum iron and Total iron supplementation
- Inadequate EPO response (due to effect binding capacity (TIBC)
of cytokines) reduced
- Serum ferritin normal or
raised
Sideroblastic - Hereditary: X-linked - Defective haem synthesis (mutation in Detected through bone - Treat the underlying cause
anaemia - Acquired ALA synthase) marrow examination - Pyridoxine (B6)
- Primary - Increase iron uptake > increase iron - Thiamine (B1)
(myelodysplastic, refractory deposition - EPO
type) - Blood transfusions
- Secondary (drugs,
 alcoholism, lead poisoning
malignancy)
Sickle cell - Autosomal recessive Results from a mutation in the globin - Vaso-occlusive crisis Preventing precipitating
anaemia - Common is Africa, Middle chain - Anaemia: Hb, sickling of factors (infection, acidosis,
(Hb abnormality) east and India Clinical subtypes: RBC, sickle solubility test, Hb dehydration, cold and
- Hb SS sickle cell anaemia electrophoresis hypoxia) is the best course of
- Hb SC sickle cell disease (Mild anaemia confirmatory management
but higher incidence of retinal - Splenic sequestration: Hb,
abnormalities) abdominal pain, splenomegaly
- Hb AS sickle cell trait (no anaemia, - Bone marrow aplasia: Hb,
normal blood picture, hematuria) reticulocytes

Hb S exposed to hypoxia > polymerization
and crystallisation of Hb > sickling of RBC
> loss of membrane flexibility > rapid
degradation of RBC and blockage of
microcirculation > blood stasis > tissue
infarction
Thalassaemia
(Hb Abnormality)

Autosomal recessive disorder
Thalassaemia Mediterranean region
(excess globin
formation) Caused by point mutations
Thalassaemia major Homozygous - Failure to thrive, recurrent bacterial - RBC Management:
infection - MCV - Folic acid supplements
- Severe anaemia - Hb - Regular blood transfusions
- Extramedullary haemopoiesis (liver, - Microcytic hypochromic - Bone marrow transplant
spleen and other bones) anaemia - Gene therapy
- Genetic counselling
Thalassaemia - Becomes symptomatic in adolescence May have bone deformities Does not require blood
intermedia - Presents with mild anaemia and splenomegaly transfusion
- Still may be iron overloaded
Thalassaemia minor Heterozygous Carrier state Usually asymptomatic
(trait) Anaemia is mild or absent

Thalassaemia Far east region
(excess globin
formation) Caused by gene deletions
4-gene deletions No chain synthesised, only gamma Death in utero or shortly after
chains > Hb Barts () instead of Hb F birth
- Non-functional Hb

3-gene deletions Also known as Hb H (4) disease - Moderate anaemia Regular transfusion not need
- Splenomegaly
- Microcytosis
2-gene deletions Also know as - thalassaemia trait May or may not have anaemia
- Microcytosis
- Asymptomatic
- Normal electrophoresis
1-gene deletion Also know as - thalassaemia trait - Asymptomatic
- Clinical picture: normal
- Blood picture: normal