B12 deficiency anemia

1. B12 and
Folate
deficiency
Anemia

2. Definition
Both vitamin B12 and folate deficiencies cause
megaloblastic anemia. Megaloblastic anemia is a term
that refers to anemia in which the process of nucleic
acid metabolism is impaired. Vitamin B12 and folate
are both water-soluble B vitamins required for
formation of hematopoietic cells (red blood cells, white
blood cells, and platelets)

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6. Prevalence
Vitamin B12 deficiency affects 1 to 2 percent of the
general population and 10 to 15 percent of older adults
and hospitalized patients. Most cases of vitamin B12
deficiency in resource-rich settings are due to
malabsorption rather than dietary deficiency. Folate
deficiency is rare in individuals consuming a varied diet
with folic acid-supplemented food, as long as they have
normal gastrointestinal anatomy and function

7. CLINICAL PRESENTATION
Patients with vitamin B12 and/or folate deficiency most
commonly present with anemia, which may be
associated with nonspecific symptoms (often fatigue,
which can occur in anemia of any etiology). The most
common neurologic findings in vitamin B12 deficiency
are symmetric paresthesias or numbness and gait
problems.
Other findings may include one or more of the
following; Depression or mood impairment, Irritability,
Insomnia, Cognitive slowing Forgetfulness, Dementia
and Psychosis

8. Vitamin B12 deficiency can cause glossitis (including pain,
swelling, tenderness, and loss of papillae and/or
hyperpigmentation of the tongue), and folate deficiency can
cause oral ulcers.
Laboratory testing
CBC and blood smear
Deficiencies of vitamin B12 and folate can both cause
megaloblastic anemia.
Anemia
Macrocytic red blood cells (RBCs; eg, mean corpuscular
volume [MCV] >100 fL) or macro-ovalocytosis.

9. A complete blood cell count (CBC)
Hemoglobin(Hb)- low
Hematocrit (PCV)- low
Macrocytic (MCV-high )
Examination of a blood smear
Blood vitamin B-12 level measurements
Finally, bone marrow aspiration or bone marrow biopsy

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12. Blood smear (macrocytic RBC)

13. Additional testing (vitamin B12) – Methylmalonic acid
(MMA), homocysteine, and/or autoantibodies to intrinsic
factor (IF) or gastric parietal cells may be appropriate if the
vitamin B12 level is borderline low or discordant with the
clinical picture.
Additional testing (folate) – MMA, homocysteine, or red
blood cell (RBC) folate may be appropriate
Response to treatment – Response to administration of the
vitamin (especially hematologic response) is supportive. In
some cases this may be the sole basis for the diagnosis,
although we prefer laboratory testing.

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15. Treatment of vitamin B12 and folate deficiencies
Individuals at risk for vitamin B12 deficiency (eg, strict
vegan or vegetarian diet, gastric or bariatric surgery,
pregnancy or lactating with limited intake of foods from
animals) should receive oral vitamin B12 supplements.
Patients with other risk factors may either use
supplementation or periodic monitoring with treatment
if deficiency occurs.
Vitamin B12 deficiency may be treated with oral or
parenteral vitamin B12

16. β Thalassemia Anemia
β Thalassaemia usually results from point
mutations within the β globin gene cluster, β
thalassaemia can be classified according to the
severity of their symptoms into three groups:
1- β thalassaemia minor (or trait)
2- β thalassaemia intermediate
3- β thalassaemia major

17. β Thalassaemia minor
It's the mildest form, which arises from the inheritance
of a single abnormal β globin gene. Typically, the
affected individual exhibits no significant signs of the
disease and generally live a normal lifespan.
Investigation:
Microcytic hypochromic anaemia with normal Iron
study and HB Electrophoresis.

21. β Thalassaemia major
β Thalassaemia major results from the inheritance of
two b thalassaemia genes.
In the absence of treatment, the condition is
characterized by :
1-Sever anaemia
2-Retarted growth
3-Facial mongoloid appearance

23. Treatment
Frequent blood transfusion
Iron chelating agent; Deferoxamine
Stem cell transplant complete cure