Nutritional deficiencies and Haemolytic Anaemias

Iron Deficiency „

Iron absorption z

Heme iron Non-heme iron

z

Enhanced by gastric acid, ascorbate (vit C), breast milk

z

Decreased by bovine milk proteins, egg white, phytates, bran, calcium, zinc, lead

z

FRACP Lectures 2010

Iron Deficiency „

Iron Deficiency

Stages in development of iron deficiency z

z z

„

Iron depletion: low ferritin; normal Hb and indices (MCV) Iron deficiency: low ferritin and indices; Hb normal Iron deficiency anaemia

Risk factors: z

Iron Deficiency

Neonatal period and infancy z prematurity z fetomaternal haemorrhage z placenta praevia z rupture of umbilical blood vessels z twin-twin transfusion z cows milk z oesophagitis z Meckel’s diverticulum

Iron Deficiency

Prevalence of iron deficiency in Australian children „

Age (months)

n

iron depletion%

iron deficiency%

anaemia%

9-23 24-35 36-47 48-62

182 176 148 172

18.7 14.2 6.8 1.2

5.4 3.7 1.7 0.0

1.4 3.0 0.0 0.0

9-62

678

10.5

2.8

1.1

Risk factors: z

z

GIT disease z Coeliac disease z IBD z Cow’s milk enteropathy z Worm infestation Blood loss z Menstrual z Hereditary haemorrhagic telangiectasia z Urinary z Pulmonary

1

Iron Deficiency „

Clinical consequences of iron deficiency z z z z z z

Anaemia Poor growth Exercise intolerance Epithelial changes Immunity Pica

Iron Deficiency „

Iron Deficiency

Clinical consequences of iron deficiency z

„

Neurological dysfunction z Lower scores on Bayley Scale of infant development z Changes irreversible at Hb anaemia z ?Role of neonatal liver function and exogenous oxidant agents

G-6-PD deficiency: Acute Haemolysis z

z

z z

Red Cell Enzyme Deficiencies „

G-6-PD deficiency: Acute Haemolysis z

z

z

Red Cell Enzyme Deficiencies „

Intravascular and extravascular haemolysis Bite cells,, blister cells,, spherocytes and polychromasia Heinz bodies

G-6-PD deficiency: Chronic non-spherocytic haemolytic anaemia z z z z z

Red Cell Enzyme Deficiencies „

Pyruvate Kinase deficiency z

z z z

Haemolysis due to abnormalities of enzymes of glycolytic pathway rare; 90% of cases due to PK deficiency Impaired formation of ATP Autosomal recessive or compound heterozygosity Worldwide distribution esp. Northern Europe

Exposure to exogenous oxidant or infection Fever,, abdo pain, p , pallor, p , dark urine and jaundice Precipitous fall in Hb Self-limiting

Chronic anaemia Reticulocytosis +/- Macrocytosis Extravascular haemolysis Acute exacerbations with oxidant stress

Red Cell Enzyme deficiencies „

Pyruvate Kinase deficiency z

z

Clinical z Neonatal jaundice z Chronic haemolytic anaemia + splenomegaly Diagnosis z Osmotic fragility normal or decreased z Autohaemolysis normal or increased with added glucose z Increased red cell 2,3 DPG z PK assay: false normal with reticulocytosis, leucocyte contamination or variant mutations

10

Red Cell Enzyme Abnormalities „

Red Cell Enzyme Abnormalities Enzyme

% Non-G-6-PD Enzyme Abn

Inheritance

Clinical Features

Morphology

Pyrimidine 5’ nucleotidase

2-3

AR

Moderate CNSHA

Prominent stippling

Glucose phosphate isomerase

3-5

AR

Moderate-severe CNSHA

Phosphofructokinase