1. Diagnosis of a case of
Anemia
Dr. Md Shahid Iqubal
Deptt Of Medicine, Nmch
2. Definition of anaemia
• Anaemia is a condition in which the number of
red blood cells or their oxygen-carrying capacity
is insufficient to meet physiologic needs, which
vary by age, sex, altitude, smoking, and
pregnancy status.
• The WHO criteria for anemia as hemoglobin (Hb)
levels <12.0 g/dL in nonpregnant women and
<13.0 g/dL in men(in adults).
• Anemia in pregnancy is defined as a hemoglobin
concentration of less than 11 g/dL .
3. DATA REPORTS
• It is a major public health problem
• Estimated prevalence of anemia in india is 42% in
women 15–59 years, 30% in men 15–59 years,
and 45% in adults >60 years.
• According to World Health Organization,
prevalence of anaemia among pregnant women
in developed countries is about 14%, whereas it is
still as high as 51% in the developing world
• The prevalence of anemia is 98% among the
pregnant females in this region of rural India.
4. Grading of anaemia
Grade of anemia Hb concentration
Mild Hb from lower limit of normal to 10g/dl
Moderate 10.0 to 7.0 g/dl
Severe <7.0 g/dl
6. Morphological classification of anemia
Microcytic anemia
(MCV<80fl)
Macrocytic anemia
(MCV>100fl)
Normocytic anemia
(MCV 80-100 fl)
Iron deficiency anemia Megaloblastic anemia Reticulocyte production
normal
Thalassemia Nonmegaloblastic anemia • Recent blood loss
• hemolytic anemia
Sideroblastic anemia • liver disease Reticulocyte production
deficient
Anemia of chronic disease • hemolytic anemia • Anemia of chronic
disease
• alcoholism • aplastic anemia
• myelodysplastic
syndrome
• chronic kidney disease
• hypothyroidism • hypothyroidism
7. Clinical presentation of anemia
Symptoms
• Fatigue
• Malaise
• Dyspnea and palpitation
• Syncope
• Dizziness
• Menorrhagia
• Loss of appetite
8. Diagnosis of anemia
History
• Diet history-vegeterian or nonvegeterian
• h/o-chronic blood loss(menorrhagia,hemorrhoids)
• h/o-drugs like anticancerous agents,
chloramphenicol,gold,penicillamine(aplastic anemia)
Dapsone,quinine(hemolytic anemia)
• Family history of anemia(thalassemia,sickle cell
anemia)
• h/o alcohol addiction
• h/o-renal disease,rheumatologic disease
• History of systemic symptoms like fever ,weight
loss,night sweats.
• Obstetric and menstrual history
10. Investigation
• CBC
• Reticulocyte count
• ESR
• Peripheral blood smear
• LFT(recent viral hepatitis)
• RFT
• Iron profile
• LDH,uric acid
• Vitamin B12 and folic acid level
• Bone marrow examination
• Hg electrophoresis
• Flowcytometry
• Direct and indirect coombs test
• Screening test for hep A,B and C
13. Iron deficiency anemia
Cause-blood loss(menses,GI blood loss)
celiac disease,h.pylori infection
• History of pica(consumption of substances
such as ice, starch, or clay)
• koilonychia (“spoon nail”), and
glossitis(Plummer-Vinson's
syndrome) seen in severe iron
deficiency anemia
14. Investigations
• CBC and red cell indices-↓Hb, ↓MCV, ↓MCH, ↓MCHC
• Reticulocyte count-normal or decreased
• PBS –Microcytic and hypochromic
anisocytosis and poikilocytosis
• Iron profile-ferritin decreased (<10ng/ml in women and <20ng/ml
in men)
serum iron ↓,TIBC↑
• BM biopsy-absent or ↓ staining
for iron.
Severe iron deficiency anemia
(Normal serum iron-50-150µ/dL
Normal TIBC-300-360µ/dL)
15. Thalassemia
• The thalassemia syndromes are inherited
disorders of α- or β-globin biosynthesis.
• Alpha and beta thalassemia
Alpha beta thalassemia
Silent carrier Minor
trait intermedia
Hemoglobin H Major(cooley’s anemia)
hydrops fetalis
16. Diagnosis of Thalassemia
• The diagnosis of β Thalassemia major made
during childhood.
• Minor and intermedia remains asymptomatic
• On examination – jaundice, hepatosplenomegaly,
Investigation –
• CBC- ↓MCV, ↓MCH
• Reticulocytosis
• Peripheral smear-microcytic hypochromic RBCs
with poikilocytosis ,target cells
17. Peripheral blood smear of thalassemia
Microcytic and hypochromic
resembling severe iron-deficiency
anemia. Many elliptical and
teardrop-shaped red blood cells are
noted.
Target cells have a bull’s-eye
appearance
18. Diagnosis of Thalassemia contd….
• Hb electrophoresis is diagnostic for β –
thalassemia
• HbF(α2γ2), HbA2 (α2δ2) or both increased.
• In α thalassemia trait HbA2 and HbF levels are
normal.
(Normal HbF<1%,HbA2-2.5-3.5%)
• Hb H disease have increased β tetramers.
19. Differential diagnosis of Microcytic anemia
Tests Iron Deficiency Inflammation Thalassemia Sideroblastic
Anemia
smear Micro/hypo Normal
Micro/hypo
Micro/hypo
with targeting
variable
Serum
iron(μg/dL)
<30 <50 Normal to high Normal to high
TIBC(μg/dL) >360 <300 normal normal
Percent
saturation
<10 10-20 30-80 30-80
Ferritin(μg/L) <15 30-200 50-300 50-300
Hemoglobin
pattern on
electrophoresis
Normal Normal Abnormal with
β thalassemia;
Normal
21. Megaloblastic anemia
• Megaloblastic anemia is a term used to describe
disorders of impaired DNA synthesis in hematopoietic
cells but affects all proliferating cells.
• Due to folic acid or vitamin B12 deficiency
Diagnosis-
• In addition to sx of anemia peripheral neuropathy,
paresthesias,
Seizures and dementia may found due to vit b12
deficiency
• On examination- Jaundice or splenomegaly
• Decreased vibratory and positional sense, ataxia,
22. Investigations of megaloblastic anemia
• Increased MCV & MCH,normal MCHC
• Low RBC ,WBC,and platelets
• Peripheral smear-oval macrocytes,anisocytosis,poikilocytosis,
Hypersegmented neutrophils
• LDH and indirect bilirubin are elevated
• Raised urine urobilinogen
• Serum vitamin B12 ,or folate or both decresed
(Normal serum vit B12levels 160–200 ng/L and normal serum folate
2 -15 μg/L)
• Serum methylmalonic acid (MMA) and homocysteine (HC) are
elevated in vitamin B12 deficiency; and only HC is elevated in folate
deficiency.
• Detecting antibodies to intrinsic factor is specific for the diagnosis
of PA.
23. Peripheral smear of megaloblatic anemia
Severe megaloblastic anemia Macro-ovalocytes
25. Aplastic anemia
• Aplastic anemia is pancytopenia with bone
marrow hypocellularity.
• Inherited-fanconi anemia,dyskeratosis
congenita
• Acquired-radiation,drugs like cytotoxic
drugs,benzene,chloramphenicol,NSAIDS,sulfo
namides,gold,mercury,hydantoin,parvo
virus,hepatitis,EB virus,HIV-1
26. Diagnosis of aplastic anemia
• History-of bleeding,easy bruising,nose bleeds,heavy
menstrual flow
• Family history of hematologic ds
• Examination-petechiae and ecchymoses
• Lymphadenopathy and splenomegaly are highly atypical of
aplastic anemia. Cafe au lait spots and short stature
suggest Fanconi anemia
• MCV-increased,reticulocytes are absent or few
• Peripheral smear-shows large erythrocytes and a paucity of
platelets and granulocytes.
• Bone Marrow-only red cells,residual lymphocytes,mainly
fat
• Chromosome studies of bone marrow cells for MDS
• Flow cytometry to rule out PNH.
27. Anemia of chronic kidney disease
• Primarily due to decreased endogenous EPO
production
• Other causes are-Diminished red blood cell
survival, Bleeding diathesis
• Iron deficiency
• Hyperparathyroidism/bone marrow fibrosis
• Chronic inflammation
• Folate or vitamin B12 deficiency
• Comorbid conditions: hypo-/hyperthyroidism,
pregnancy,
31. Diagnosis of hemolytic anemia
• General examination- Jaundice, pallor
• Other physical findings Splenomegaly; bossing of skull
• Hemoglobin level From normal to severely reduced
• MCV, MCH Usually increased
• Reticulocytes Increased
• Bilirubin Increased (mostly unconjugated)
• LDH Increased
• Haptoglobin Reduced to absent
• direct Coombs test [DAT] is an indicator of the presence of
antibodies attached to RBC.
• The indirect Coombs test indicates the presence of free antibody in
the plasma.
• A peripheral blood smear-in Intravascular hemolysis may show red
cell fragmentation (i.e., schistocytes,helmet cells)
32. Hereditary Spherocytosis
• Autosomal dominant
• Jaundice,splenomegaly,gall stones
• MCHC increased
• Peripheral smear-normocytic,spherocytes
• Screening test-osmotic fragility test
• Definitive dx by molecular studies of gene
33. Sickle cell anemia
• Due to point mutation in 6th place of beta
chain ,glutamic acid→valine
• On deoxygenation sickle cells are formed
Clinical presentation
• Vaso-occlusive crisis-acute chest
syndrome,pain crisis
• Aplastic crisis-by parvovirus B19
• Hemolytic crisis-gall stones
• infections
35. Diagnostic testing of sickle cell anemia
Sickling test
Sickling and solubility test –screening test of sickle cell anemia
36. Diagnostic testing of sickle cell anemia
• HPLC- Hb analysis by high performance liquid chromatography
homozygote
heterozygote
37. Glucose-6-phosphate dehydrogenase deficiency
• X-linked disorder
• Reduced activity of G6PD
• Inability to remove H2O2
• Accumulated H2O2 leads to oxidation of
hemoglobin with precipitation of globin chains
• May Present as neonatal jaundice
• Incresed bilirubin and Hemoglobinuria.
38. Peripheral smear of G6PD
• On Peripheral smear-bite cells and heinz
bodies (precipitated Hb within RBCs).
39. Autoimmune Hemolytic Anemia
Warm antibody AIHA-by an IgG autoantibody
• Lymphoma,CLL,collagen vascular ds
Cold antibody AIHA-by an IgM autoantibody
• Seen in cold agglutinin ds,mycoplasma EB virus
Diagnosis-
• reticulocytosis,elevated LDH, and indirect
hyperbilirubinemia.
• Peripheral blood smear may show spherocytes, occasional
fragmented RBCs,
• Positive DAT(direct coombs test)
• Warm AIHA: IgG +and/or C3+
• Cold AIHA: IgG-and C3+
40. Take home message
• Anemia is one of the important cause of morbidity and
mortality in women.
• Iron deficiency anemia is the most common type of anemia
• Iron deficiency in adult male means GI blood loss until
proven otherwise.
• Hb electrophoresis is diagnostic for thalassemia
• Megaloblastic anemia may present as pancytopenia
• Reticulocytosis present in hemolytic anemia
• Microcytic hypochromic –iron deficiency anemia
• Macrocytic-megaloblastic anemia
• Normocytic normochromic-hemolytic anemia
