disorders of iron metabolism · disorders of iron metabolism . dr. akif ahsan . assistant professor...
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Disorders of IRON Metabolism DR. AKIF AHSAN Assistant Professor
Dept. of Biochemistry JNMC, AMU, Aligarh
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OBJECTIVES By the end of this session you should be able to:
Enumerate the causes of Fe deficiency. 1. Enumerate the EARLY manifestations of Fe deficiency.
2.
Enumerate the manifestations of severe prolonged Fe deficiency.
3.
Describe the pathogenesis & enumerate the manifestations of primary hemochromatosis.
4.
Enumerate the causes of secondary hemochromatosis.
5.
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FA T I GU E W EA KN E S S D I ZZ I N ES S SHORTNESS OF BREATH
CONJUNCTIVAL PALLOR S KI N PA LLOR
- A N E M I A -
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Anemia is a medical condition in which the RBC count or hemoglobin is less than normal.
NORMAL ANEMIA
Most common cause of anemia is…
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IRON DEFICIENCY
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Causes of Iron Deficiency
Inadequate intake Malabsorption Blood loss
Infancy Adolescence Pregnancy
Steatorrhea Celiac disease Gastrectomy Lead poisoning
Hookworm infestations Nephrosis Hemorrhoids Peptic ulcer
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Early Manifestations
Earliest change: Depletion of body iron stores.
↑ transferrin & ↓ transferrin saturation
↓ plasma iron
Microcytic hypochromic anemia
Poikilocytosis
↓ hemoglobin
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Severe prolonged deficiency leads to
Koilonychia
Angular stomatitis
Glossitis
Pharyngeal & esophageal webs
Atrophic gastritis
Partial villus atrophy
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Koilonychia
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Angular Stomatitis (Cheilosis)
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Glossitis
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Pharyngeal & esophageal webs
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Pharyngeal & esophageal webs
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IRON TOXICITY
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Iron Toxicity / Overload
Hemochromatosis (Hemosiderosis)
Primary
Secondary
Ferritin, serum iron & % saturation of TIBC are increased.
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Primary Hemochromatosis
Mutation of HFE gene
Hepcidin level decreases
Iron absorption increases
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Inhibits release of HEPCIDIN from liver.
Fe2+
Fe2+
Fe2+
DMT 1
Ferroportin Ferroportin
Intestinal mucosal cells Spleenic macrophages HEPCIDIN
HFE gene mutation
Non-functional HFE protein
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Clinical Manifestations
Diabetes
Hepatomegaly / Cirrhosis
Bronze colored skin pigmentation
Cardiomegaly / CHF
Bronze Diabetes
Due to Iron deposition in different organs
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Bronze Diabetes
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Secondary Hemochromatosis
Severe chronic hemolysis
Repeated blood transfusions
Excessive parenteral iron supplements
Excessive dietary iron
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MCQ
a) ↓ Transferrin saturation b) ↓ TIBC c) Hypochromic anemia d) Poikilocytosis
All are seen in iron deficiency, EXCEPT:
[KEY: b]
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MCQ
a) Mutation in HFE gene b) ↓ Hepcidin level c) ↓ transferrin saturation d) ↑ Iron absorption
All are true about primary hemochromatosis, EXCEPT:
[KEY: c]
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MCQ
a) Both A and R are true and R is the correct explanation of A.
b) Both A and R are true but R is NOT the correct explanation of A.
c) A is true but R is false. d) A is false but R is true. e) Both A and R are false
Assertion: Iron toxicity is seen in primary hemochromatosis.
Reason: Ferritin increases in primary hemochromatosis.
[KEY: b]
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CAN YOU ??? Enumerate the causes of Fe deficiency. 1. Enumerate the EARLY manifestations of Fe deficiency.
2.
Enumerate the manifestations of severe prolonged Fe deficiency.
3.
Describe the pathogenesis & enumerate the manifestations of primary hemochromatosis.
4.
Enumerate the causes of secondary hemochromatosis.
5.