IRON METABOLISM
Presented By:

• Bivek Singh
• KISTMC
• Second year student
• Department of biochemistry
Describe Iron deficiency anemia

Describe the diagnostic test for iron
deficiency states.

Cause ,Diagnosis and Management of
Porphyria

Acute intermittent porphyria


Iron deficiency anemia
Commonest cause of anaemia worldwide

Cause of chronic ill health

CAUSE :-

• Increased physiologic demand eg. pregnancy, lactation, rapid growth
• Blood loss from GI tract, uterus, haemoglobinuria
• Malabsorption
• Diet

CLINICAL FEATURES :
IRON DEFICIENCY
Symptoms eg. fatigue, dizziness, headache

Signs

eg. pallor,

glossitis,

angular cheilosis,

koilonychia,

Plummer Vinson syndrome

LABORATORY DIAGNOSIS: IRON DEFICIENCY
• Microcytic hypochromic anaemia
• Often pencil cells and target cells on blood film
• Decreased serum ferritin
• Decreased serum iron, increased TIBC, decreased % transferrin saturation
• Absent bone marrow haemosiderin : (rarely required for diagnosis )
Things you need to know about Laboratory Testing for Iron Status

1. Serum ferritin most useful test
2. Low serum ferritin certain proof patient iron deficient
3. Normal serum ferritin does not always rule out iron deficiency
4. Certain conditions raise ferritin for reasons unrelated to iron status

Porphyria:
Heme is part of hemoglobin, myoglobin, catalases, peroxidases, and cytochromes

Heme is made in every human cell (85% in erythroid cells & much of the rest in the liver)

Classification of porphyrias
Porphyria is a disruption in the heme pathway
• Group of metabolic diseases resulting from a partial deficiency of an enzyme in the heme biosynthetic pathway
• Seven enzymes in the pathway
• Four of the porphyrias cause acute attacks
• Increased demand for heme can precipitate attacks secondary to overproduction of toxic heme precursors (porphyrins, ALA)
• The porphyrins have no useful function and act as highly reactive oxidants damaging tissues
Not a ‘vampire’s’ disease
Some symptoms of porphyrias have lead people to believe that these diseases
provide some basis for vampire legends:
• Extreme sensitivity to sunlight
• Anemia

This idea has been discarded both for scientific reasons:
• Porphyrias do not cause a craving for blood.
• Drinking blood would not help a victim of porphyria.
Acute Intermittent Porphyria
Most common porphyria
Deficiency of hepatic PBG deaminase
Autosomal dominant pattern
Affected individuals have a 50% reduction in erythrocyte PBG deaminase activity
Latent prior to puberty
Symptoms more common in females than males
Increased urinary ALA & PBG
Clinical Features
 Gastrointestinal symptoms - Abdominal pain (most common presenting complaint), nausea/vomiting, constipation, and diarrhea.
 Dehydration
 Hyponatremia
 Cardiovascular symptoms - tachycardia, hypertension, arrhythmias
 Neurologic manifestations - motor neuropathy, sensory neuropathy, mental symptoms, seizures.
diagnosis
• PBG, uroprophryin, and 5-ALA
accumulate in the plasma and the urine

Cause diagnosis and treatment
of porphyrias
Porphyrias are metabolic diseases resulting from a partial deficiency of an enzyme in the heme biosynthetic pathway
Cause acute attacks secondary accumulation of heme precursors
Clinical features: abdominal pain, tachycardia, hypertension, hyponatremia, seizures, motor neuropathy etc.
Treat acute attacks with IV hemin
Prevent acute attacks with smoking cessation, avoidance of inciting agents

DIAGNOSIS
1. Erythrocyte fluorescence:Positive test suggests erythropoietic protoporphyria or congenital erythropoietic porphyria.

1. Plasma scan:highly specific for variegate porphyria.

1. Urine porphyrin and precursor analysis:may confirm a diagnosis of acute intermittent porphyria or porphyria cutanea tarda, and is the most appropriate way to assess the biochemical activity of variegate porphyria

1. DNA analysis:

1. Stool porphyrin analysis:usually for diagnosis of hereditary coproporphyria.

TREATMENT
Remove precipitating factors
Treat the pain
Expect and treat the complications
Specific therapy with hemin (haem arginate)
Prevent acute attacks with smoking cessation, avoidance of inciting agents