This document discusses various types of anemia including pernicious anemia, aplastic anemia, sideroblastic anemia, and megaloblastic anemia. Pernicious anemia is caused by a vitamin B12 deficiency due to a lack of intrinsic factor leading to neurological and gastrointestinal symptoms. Aplastic anemia results from bone marrow failure causing pancytopenia and bleeding. Sideroblastic anemia causes iron accumulation in red blood cells despite sufficient iron levels. Megaloblastic anemia is caused by folic acid or B12 deficiencies inhibiting DNA synthesis during erythropoiesis leading to large immature red blood cells.
3. PERNICIOUS
ANEMIA
DEFINATION:
Pernicious anaemia is defined as a type of vitamin B12 deficiency
that results from impaired uptake of vitamin B-12 due to the lack of
a substance known as intrinsic factor (IF) produced by the stomach
lining.
Recommended dietary allowance of 2 µg/d.
7. SIGNS AND SYMPTOMS:
Persons over the age of 30 years of both the gender.
ANEMIC SYMPTOMS NEUROLOGICAL
SYMPTOMS
GIT SYMPTOMS
PALLOR TINGLING OF EXTREMITIES NAUSEA
WEAKNESS BURNING OF EXTREMITIES VOMITTING
FATIGUE PARAESTHESIA
NUMBNESS
DIARRHOEA
SHORTNESSOF BREATH
HEADACHE
9. DIAGNOSIS
Decreased serum vitamin b12 with normal folate levels.
Serum antibodies against intrinsic factors specific for diagnosis.
Blood smear has macrocytic and hyperchromic
Lower haemoglobin level due to decreased erythrocytes.
Hyperpigmented granulocytes – multiple lobules of nucleus
Bone marrow aspiration – megaloblasts
Gastric analysis - achlorhydria
10.
11. Patients with low serum Cbl levels (<74 pmol/L [100 pg/mL]) usually have Cbl deficiency
12. TREATMENT:
Oral replacement of B12 1000-2000Qg/day has been effective
Intra-muscular injection of B12 of 1000Qg every day for 1st week
and every week of the subsequent month and every month for the
subsequent year.
This is a lifelong treatment plan.
13. COMPLICATIONS
In severe cases, patients may have decreased numbers of leukocytes (white blood cells) and
platelets in blood.This can result in infections, easy bruising, and bleeding
Those who are severely deficient in vitamin B12, can also develop bilateral peripheral neuropathy or
spinal cord degeneration, causing numbness and muscle weakness in the arms and legs, and
difficulty walking
Psychiatric symptoms and dementia may be present with severe vitamin B12 deficiency
Individuals with pernicious anemia (due to B12 deficiency) are at risk of gastric cancer
Infants deficient in vitamin B12 may have poor brain development
Congestive heart failure
14. APLASTIC
ANEMIA
DEFINATION:
Reduction in the amount of haemotopoietic tissue causing inability
to produce mature cells for discharge into the bloodstream is known
as aplastic anemia.
Men and women are affected with equal frequency.
Age distribution is biphasic, with the major peak in the teens and
twenties and a second rise in older adults.
19. PATHOPHYSIOLOGY:
Bone marrow failure results from severe damage to the hematopoietic cell compartment.
There is replacement of the bone marrow by fat.
An intrinsic stem cell defect exists for the constitutional aplastic anemias.
Extrinsic damage to the marrow follows massive physical or chemical insults such as high doses of
radiation and toxic chemicals.
Immune mediators like HelperT cells,TNF, IFN-ϒ may be involved in the pathogenesis.
20. CLINICAL PRESENTATION:
Can appear seeming abruptly or have a more insidious onset.
Bleeding is the most common early symptom.
Easy bruising, oozing from the gums, epistaxis, heavy menstrual flow, and sometimes petechie
(massive hemorrhage is unusual)
Symptoms of anemia are also frequent, including lassitude, weakness, shortness of breath, and a
pounding sensation in the ears.
Infection (due to leukopenia) is an unusual first symptom in aplastic anemia.
Pallor
Petechiae and ecchymoses.
21. ORAL MANIFESTATIONS
Oral manifestations are common in patients with aplastic anemia and are directly associated with
pancytopenia.These manifestations include
petechial hemorrhages,
gingival swelling and spontaneous bleeding,
ulceration,
pallor
severe periodontal disease.
22. DIAGNOSIS:
BLOOD:-
Smear shows large erythrocytes and a paucity of platelets and
granulocytes.
Reticulocytes are absent or few.
BONE MARROW:-
Fatty biopsy specimen may be grossly pale
Dilute smear
“Dry tap" instead suggests fibrosis or myelophthisis
23.
24. TREATMENT:
Hematopoietic growth factors
Immunosuppression
Stem cell transplantation
Supplementation of blood products and supportive care
25. SIDEROBLAST
ICANEMIA
DEFINATION:
The sideroblastic anemias are a group of blood disorders in which
the body has enough iron but is unable to use it to make
hemoglobin, which carries oxygen in the blood.As a result, iron
accumulates in the mitochondria of red blood cells, giving a ringed
appearance to the nucleus (ringed sideroblast).
26. AETIOLOGY:
Toxins: lead, copper, or zinc poisoning
Drug- induced: ethanol, isoniazid, chloramphenicol, cycloserine,
Linezolid, oral contraceptives
Nutritional: pyridoxine (Vitamin B6) or copper deficiency
Diseases: Rheumatoid arthritis or multiple myeloma
Genetic: ALA synthase deficiency (X-linked, associated with ALAS2
27. CLASSIFICATION:
TheWHO InternationalWorking Group on Morphology of MDS
(IWGM-MDS) defined three types of sideroblasts:
Type 1 sideroblasts: fewer than 5 siderotic granules in the
cytoplasm
Type 2 sideroblasts: 5 or more siderotic granules, but not in a
perinuclear distribution
Type 3 or ring sideroblasts: 5 or more granules in a perinuclear
position, surrounding the nucleus or encompassing at least one
third of the nuclear circumference.
Type 1 and type 2 are found in non-sideroblastic anemias.Type 3 is
found only in sideroblastic anemia.
28. DIAGNOSIS:
Serum Iron: high
increased ferritin levels
decreased total iron binding capacity
high transferrin saturation
Haemtocrit of about 20-30%
The mean corpuscular volume or MCV is usually normal or low for
congenital causes of sideroblastic anemia but normal or high for
acquired forms.
With lead poisoning, see coarse basophilic stippling of red blood cells
on peripheral blood smear
Specific test: Prussian blue stain of RBC in marrow shows ringed
sideroblasts. Prussian blue staining involves a non-enzymatic reaction
of ferrous iron with ferrocyanide forming ferric-ferrocyanide, which is
blue in color. A counterstain may be used to provide better
visualization.
29. TREATMENT:
1.Anemia is so severe that support with transfusion is required.
2. Patients usually do not respond to erythropoietin therapy.
3. Improved heme level by moderate to high doses ofVitamin
4. Severe cases of SBA, bone marrow transplant with limited information about the success rate.
5. In the case of isoniazid-induced sideroblastic anemia, the addition of B6 is sufficient to correct
the anemia.
6. Desferrioxamine is used to treat iron overload from transfusions.
7. Bone MarrowTransplant (BMT) is the last possible treatment
30. MEGALOBLAS
TICANEMIA
Megaloblastic anaemia is a red blood cell disorder due to the
inhibition of DNA synthesis during erythropioesis. Mitotically, the
inhibition of the DNA synthesis impaires the progression of the cell
cycle development from G2 to (M) stage.
DAILY REQUIREMENTS:
Adult : 3 μg
Infants & children: 1.0- 1.5 μg
Pregnancy & lactation: 6 μg
32. PATHOGENESIS:
Lack of B12 allows folic acid to be trapped as non functional methyl tetrahydrofolate(folate trap).
So deficiency of functional FH4 causes impairment of formation of deoxy thymidine
monophosphate(dTMP) which is needed for DNA synthesis.
As a result large proerythroblast fails to divide rapidly to make mature RBC rather immature
precursors of erythocyte(blast cell) appear to cause megaloblastic anaemia.
33. SIGNS AND SYMPTOMS
Shortness of breath
Muscle weakness
Abnormal paleness of the skin
Glossitis (swollen tongue)
Loss of appetite/weight loss
Diarrhea
Nausea
Fast heartbeat
Smooth or tender tongue
Tingling in hands and feet
Numbness in extremities
ORAL MANIFSTATIONS
Glossitis
Angular cheilitis
Recurrent oral ulcer
Oral candidiasis
Diffuse erythematous mucositis
34. DIAGNOSIS:
CBC
Low hemoglobin level and elevated MCV.
PB morphology
Macrocytosis, macro-ovalocytes and hyper segmented neutrophils.
Chemical testing
Serum folic acid Low (RC FA)
BM
Hyper cellular BM
Megaloblastic picture (large cells with increased RNA per DNA unit).
SchillingTest
The schilling test is used to determine whether there is faulty absorption of vitamin B12.
35. TREATMENT:
Hydroxycobalamin 5-10 ug/day IM for two weeks.
A brisk reticulocyte response after one week.
Followed by 1000 ug every three months.
Folate deficiency is treated with oral Folic acid 5 mg /day for 15 days then followed by 1mg/day.
Prophylactically in pregnancy, premature babies dialysis, and chronic hemolysis.
Folic acid should not given alone until B12 has been excluded to prevent precipitate neurological
changes.
