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Disorders of IRON Metabolism DR. AKIF AHSAN Assistant Professor
Dept. of Biochemistry JNMC, AMU, Aligarh
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.
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 -
Anemia is a medical condition in which the RBC count or hemoglobin is less than normal.
NORMAL ANEMIA
Most common cause of anemia is…
IRON DEFICIENCY
Causes of Iron Deficiency
Inadequate intake Malabsorption Blood loss
Infancy Adolescence Pregnancy
Steatorrhea Celiac disease Gastrectomy Lead poisoning
Hookworm infestations Nephrosis Hemorrhoids Peptic ulcer
Early Manifestations
Earliest change: Depletion of body iron stores.
↑ transferrin & ↓ transferrin saturation
↓ plasma iron
Microcytic hypochromic anemia
Poikilocytosis
↓ hemoglobin
Severe prolonged deficiency leads to
Koilonychia
Angular stomatitis
Glossitis
Pharyngeal & esophageal webs
Atrophic gastritis
Partial villus atrophy
Koilonychia
Angular Stomatitis (Cheilosis)
Glossitis
Pharyngeal & esophageal webs
Pharyngeal & esophageal webs
IRON TOXICITY
Iron Toxicity / Overload
Hemochromatosis (Hemosiderosis)
Primary
Secondary
Ferritin, serum iron & % saturation of TIBC are increased.
Primary Hemochromatosis
Mutation of HFE gene
Hepcidin level decreases
Iron absorption increases
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
Clinical Manifestations
Diabetes
Hepatomegaly / Cirrhosis
Bronze colored skin pigmentation
Cardiomegaly / CHF
Bronze Diabetes
Due to Iron deposition in different organs
Bronze Diabetes
Secondary Hemochromatosis
Severe chronic hemolysis
Repeated blood transfusions
Excessive parenteral iron supplements
Excessive dietary iron
MCQ
a) ↓ Transferrin saturation b) ↓ TIBC c) Hypochromic anemia d) Poikilocytosis
All are seen in iron deficiency, EXCEPT:
[KEY: b]
MCQ
a) Mutation in HFE gene b) ↓ Hepcidin level c) ↓ transferrin saturation d) ↑ Iron absorption
All are true about primary hemochromatosis, EXCEPT:
[KEY: c]
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]
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.