Transcript Anemia work up

Definition of Anemia
A reduction in the concentration of
hemoglobin in the PB below the normal for
the age and sex
Pathogenesis of Anemia
Decrease in RBC production
- Proliferation defect: Aplastic anemia
- Maturation defect: IDA, Megaloblastic,
MDS
Increase in RBC loss
- Hemorrhage
- Hemolysis
Diagnosis
History
Physical Examination
Laboratory Investigation
Patient History
Dietary habits
Medications
Exposure to chemicals and toxins
Symptoms and their duration
Fatigue, muscle weakness, headache, vertigo,
syncope, dyspnea, palpitations, etc
Previous record
Family history
Physical Examination
Skin pallor/Pale conjunctiva
Jaundice
Smooth tongue
Splenomegaly/Hepatomegaly
Purpura
Neurological dysfunction
Laboratory Examination
First Line Studies
- CBC:Hb, Hcrit, Rbc indices, Cell count, Reti count
- PB morphology examination
- Chemistry: L-ADM with LDH
Second Line Studies
- Iron/TIBC/Ferritin
- BM study
- others
CBC/PB Morphology
Anemia alone or Not ?
Microcytic, Normocytic, or Macrocytic ?
Reticulocytosis or Not ?
Abnormal RBCs or WBCs ?
Anemia alone or Not ?
Anemia alone
Bicytopenia or Pancytopenia
- Aplastic anemia/PNH
- MDS
- Acute leukemia
- Hypersplenism/Autoimmune disorders
- Megaloblastic anemia(not always)
- Myelophthisic anemia
Macro-, Normo-, or Microcytic ?
Microcytic (MCV < 80 fL)
- IDA, Thalassemia, ACD
Macrocytic (MCV > 100 fL)
- Megaloblastic anemia, Reticulocytosis
Liver disease, Aplastic anemia
Normocytic
- MDS, Leukemia, Aplastic anmeia, ACD,
Others
Reticulocyte
Reticulocytosis
- Hemorrhage
- Hemolysis
Others
- Maturation defect
- Proliferation defect
Abnormal Cells ?
RBCs
- Microspherocytes: HS, AIH
- Fragmented RBCs: MAHA
- Nucleated RBCs: hemolysis etc
- Tear drop cells: myelophthisic
WBCs
- Blasts: acute leukemia, MDS
- All myeloid series: CML
- Hypersegmented neutrophils: megalobastic
- Leukoerythroblastosis: myelophthisic, others
Iron deficiency
Serum iron
Total iron binding capacity (TIBC):
serum transferin
Transferin saturation: Iron/TIBC
Serum ferritin:
Men & postmenopausal women: < 10ng/mL
Women: < 5ng/mL
Microcytic Hypochromic Anemia
Ferritin
NIron/TIBC
IDA
Iron
TIBC N/
Satu >10%
Iron
TIBC
Satu < 10%
Iron
TIBC N/
Satu > 70%
Iron:N
TIBC: N
ACD
IDA
Sideroblastic
Thalassemia
Normocytic Normochromic Anemia
Reticulocyte
RPI > 2
RPI < 2
Schistocytes
Microspherocytes
WBC/Platelet
Yes
No
Hemolysis
Hemorrhage
N
BM study
Iron/TIBC
Macrocytic Anemia
Reticulocyte
RPI > 2
RPI < 2
Shistocytes
Microspherocytes
B12 & Folate
Yes
No
Hemolysis
Hemorrhage
N/
Megaloblastic
WBC/PL
N/
BM study
Aplastic
MDS
Liver
Liver disease
Drug
Endocrine
CASE 1
11years old girl was referred for recurrent anemia. One
month back, she was hospitalized for anemia, high
colored urine and anorexia. Her investigations showed
Hemoglobin of 5.4 gm%, (MCV =132, MCH = 45) with
reticulocyte count of 5.3%. Her serum bilirubin was 2.5
mg% (1.7 mg % Indirect Bilirubin). A hemolytic work-up
was done which was normal. (Osmotic fragility – Normal,
DCT was negative, Hemoglobin electrophoresis was
normal). Patient was on a vegetarian diet of only on dal
& rice. She was diagnosed as Megaloblastic anemia and
discharged on Folic Acid, Vitamin B12 and
multivitamins .
A year later, her hemoglobin was 13.5 gm%.
Folic Acid and Vitamin B12 were omitted.
Again in 6 months, she complained of
easy fatigability and anorexia. Her
hemoglobin was 6.8 gm% (MCV = 113,
MCH =38.3). Bone marrow aspiration was
done that showed megaloblastic changes
with giant myelocytes and normal
megakaryocytes. Serum B12 levels were
50.0 pg/ml [Normal 250-950 pg/ml] and
serum folic Acid was 5.5 ng/ml [Normal 317ng/ml).
What is diagnosis?
CASE 2
A five-year-old boy presented with
gradually increasing pallor,
purulent ear discharge and fever
for 2 months and epistaxis for 1
day. On physical examination, he
had severe pallor and petechiae
all over the body. There was no
lymphadenopathy. He had short
stature (height 90 cm),
generalized hyperpigmentation,
microcephaly (head
circumference 46.5 cm), low set
ears and receding hair line
His hands showed hypoplastic thenar eminence
and on both sides thumbs were attached with a
skin tag. Radial pulses were not palpable.
Systemic examination was normal.
(A) Typical radial ray
abnormalities and
(B) cafe au lait
patches and
hypopigmentation
Case 3
12 yo boy….fever & dark urine x 5 days
Hepatosplenomegaly; signs of CHF
Hgb 4.4 Retics 5.1 WBC 10,400 Plt 472k
Bili total 1.5, direct 0.9 LFT’s normal
Coombs tests negative
Parents 3rd cousins
Visiting SE Asia; chloroquin prophylaxis
G6PD activity markedly decreased
Transfused without problem
Hgb 12 one month later
Case 4
10 mo old white girl with hgb 6.5
Retics 20%
Direct coombs 4+
IgG antibody; anti-P
Donath-Landsteiner Ab pending
Blank room kept at 80-85°
Diagnosis?
CASE 5
A 3½ years old boy born of nonconsanguineous marriage presented with
yellowish colour of skin and eyes without
high coloured urine noted since 1 year.
There is no history of bleeding, joint pains,
rash or fever or blood transfusion. On
examination, the child had pallor, icterus,
frontoparietal bossing with malar
prominence and splenohepatomegaly.
Other systems were normal.
What is diagnosis?
Case 6
11 year old boy born of third degree
consanguineous marriage presented with fever
and increasing pallor since 15 days. There is no
history of bleeding, jaundice, high coloured
urine, bone pains, rash or drug ingestion. On
examination, he had tachycardia (heart rate =
118/min) with pallor and ecchymosis over the IV
site. There was no lymphadenopathy or
organomegaly. Other systemic examination was
normal. He was treated with blood transfusion
for the failure and anemia.
What is diagnosis?
Case 7
Newborn infant born with anemia, jaundice,
hepatosplenomegaly, and mild hydrops.
Single intrauterine transfusion.
Hgb 5.8 Reticulocytes 29%
Coombs negative
Father has gallbladder dz at age 24
Blood smear…population of
microspherocytes
CASE 8
A twelve years old male child born of third degree
consanguineous marriage presented with fever
since 10 days and high colored urine since 5
days. On examination, he had pallor, icterus
and splenohepatomegaly. He had bradycardia
and basal crepitations suggestive of
congestive cardiac failure. He had been
treated with chloroquine 5 days back by a
.private practitioner for his fever
His hemoglobin was 4.4 gm% with a WBC count of
10,400/cumm and platelet count of
4,72,000/cumm. His reticulocyte count was 5.1%
with corrected reticulocyte count of 1.7%. His
serum bilirubin was 1.5 mg/dl with indirect
bilirubin of 0.9 mg/dl. His liver enzymes were
normal with direct coombs test and indirect
coombs test being negative. A urine routine
examination showed 40-50 pus cells with absent
bile salts and bile pigments. Urine culture did not
show any organism. Ultrasound of the kidneys
showed normal kidney sizes with bright
echotexture.
What is diagnosis?
Anemia Workup
ANEMIA
reticulocyte count
UNDERPRODUCTION
reticulocyte count
INCREASED DESTRUCTION OR LOSS
Anemia Workup
UNDERPRODUCTION
Low MCV
Microcytic Anemia
Normal MCV
Normocytic Anemia
High MCV
Macrocytic Anemia
Anemia Workup
Microcytic Anemia
Iron deficiency
Thalassemias
Anemia of chronic dz
Sideroblastic anemia
Diagonstics: iron studies, peripheral smear, Hgb
electrophoresis, bone marrow bx
Anemia Workup
Normocytic anemia
Pancytopenias
Red cell aplasia
Sideroblastic anemia
Anemia of chronic dz
Diagnostics: CBC, peripheral smear, bone
marrow bx
Anemia Workup
Macrocytic anemia
Megaloblastic: B12/folate deficiency
Non-megaloblastic: liver dz, hypothyroid, drugs
that impair DNA synthesis, aplastic anemia,
sideroblastic anemia
Diagnostics: B12 and folate levels, peripheral
smear
Anemia Workup
INCREASED DESTRUCTION OR LOSS
LDH
Bilirubin
Haptoglobin
Hemolysis
Acute Blood Loss
Anemia Workup
Hemolysis
G6PD deficiency
Sickle cell
Hereditary spherocytosis
Autoimmune hemolytic anemia
Drug-induced
Hypersplenism
DIC, TTP, HUS
Diagnostics: peripheral smear, Coombs test, hgb
electrophoresis, osmotic fragility test
Normal Peripheral Smear
Thalassemia
Vitamin B12 Deficiency
Iron Deficiency Anemia
Sickle Cell Anemia
Spherocytosis