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Definition of anaemia
Anaemia is defined as a reduction in the
haemoglobin concentration of the blood
This results in a decreased oxygen
carrying capacity
PATHOLOGY, SYMPTOMS, AND SIGNS OF ANEMIA
Normal values for peripheral blood
Female Male
Erythrocytes (per l) 4.80.6x106 5.40.8x106
Hemoglobin (g/dl) 14 2 16 2
Hematocrit (%) 42 5 47 5
Reticulocytes (%) 1 1
___________________________________________
Mean corpuscular volume (MCV; m3) 82-92
Mean corpuscular hemoglobin (MCH; pg) 27-32
Mean corpuscular hemoglobin concentration (MCHC; %) 32-36
Etiologic classification of anemias (1)
I. Impaired red cell production
A. Disturbance of proliferation and differentiation of
stem cells ( aplastic anemia, pure red cell aplasia)
B. Disurbance of proliferation and maturation of
erythrocytes:
1.Defective DNA synthesis (megaloblastic anemias)
2.Defective Hb synthesis:
a/. Deficient heme synthesis (iron deficiency)
b/. Deficient globin synthesis (thalassemia)
3. Unknown or multiple mechanisms (anemia of chronic
disease, anemia of marrow replacement)
Etiologic classification of anemias (2)
Classification of Anemia
Classification of Anemia
Morphologic classification of anemias
Thalassemia
- normochromic decreased normal Spherocytosis
or normal
Normocytic anemia normal normal Aplastic anemia
- normochromic Chronic renal failure
Some hemolytic anemia
Classification of Anaemia:
Microcytic Hypochromic
MCV <80fl
MCH <27pg
Iron deficiency
Microcytic anaemia
Ferritin >25ug/L
Thalassaemia
Sideroblastic
anaemia (some cases)
Anaemia of chronic disease (some cases)
Lead poisoning
Classification of Anaemia:
Normocytic Normochromic
MCV 80-100fl
MCH >26pg
Often incidental finding in systemic disorders
May be first manifestation of a systemic
disorder
Many haemolytic anaemias
Anaemia of chronic disease (some cases)
After acute blood loss
Bone marrow failure, e.g. Post-chemotherapy,
infiltration by carcinoma etc
Classification of Anaemia:
Macrocytic
MCV >100fl
Megaloblastic: vitamin B12 or folate
deficiency
Non-megaloblastic: alcohol, liver disease,
myelodysplasia, aplastic anaemia
Iron deficiency anaemia
Assess for
Dietary Iron deficiency
Malabsorption- coeliac
Chronic blood loss
Gastrointestinal
Menorrhagia
Iron deficiency anaemia
THALASSEMIAS:
Defects of Hb synthesis
Hemoglobin molecule
heme
heme
Thalassemia-: -globin chain synthesis or ()
Thalassemia-: -globin chain synthesis or ()
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2 2 1
Gen & sejenis Kromosom 16
G A
Gen & sejenis Kromosom 11
Hb Gower 1
(2 2)
Hemoglobins Hb Gower 2 HbF HbA2 HbA
(22) (22) (2 2) (2 2)
Hb Portland
(22)
Human Hemoglobins
Hb switches: 2 major
Normal Hb F levels
newborn 70-90%
1 year 1-5%
2 years <2%
Thalassemia
thalasemia hemoglobinopathies
Genotypes to phenotypes of thalassemia
Excess of Excess of
-globin chains (fetus) -globin chains
-globin chains (adult)
24
RBC damage
ineffective erythropoiesis
peripheral hemolysis
anemia
25
Beta-thal syndromes
trait : + or 0
thalassemia-intermedia
/
+ +
/
+ 0
thalassemia-major: / 0 0
Identification of classical beta-thalassemia trait
in an adult
27
28
Asimptomatik Anemia berat sejak usia < 1 Anemia ringan sampai berat
Anemia ringan s/d berat tahun Hati dan limpa normal atau
Hb 8-15 g/dL (rata-rata 12) Perlu transfusi rutin membesar
MCV < 80 fl Hati dan limpa membesar Masih mempunyai HbA
HbA2 > 3.5% MCV < 70 fl HbF dari 10 s/d > 90%
HbF 1% Jenis Hb hanya HbA2 and HbF
HbF > 90%
30
Clinical severity of -thal syndrome: related to number of
functional -globin genes
Hb H disease
moderate 0 / + (--/-) 1
more severe 0 / T (--/ T) 1
0 or -thal 1 trait
`golf ball
inclusions
32
anemia Hb
MCV<105 fl
MCH<27pg
Hb Barts >5%
33
Levels of Hb Barts (4) in -thalassemia in
newborns
normal / 0
trait -/ 0.5-3
--/ 4-8
-/- 9-13
Normal N/anemia ringan Normal
MCH : 27-31 pg < 25 pg 25-27pg
HbA2 : 2.5-3.5% normal or normal or
HbF : <1% atau (-) atau (-)
FENOTIP THALASSEMIA - (PENDERITA)
Normal
/ --/--
- -/-
4=HbBart
4=HbH
Adult Fetus
MCH : < 26-32 pg Kematian janin HbH disease
HbA2 : 2.5-3.5% (28-32 minggu) mild to severe anemia
HbF : <1% Hydrops fetalis
HbBart hydrops fetalis Hb variant analysis
HbBart AFFECTED
HbH
Normal fetus
HbF
Anamnesis/pedigree
Pemeriksaan Fisik
Pemeriksaan laboratorium
Anamnesis/Pedigree
Orang Tua
Thalassemia Trait Orang Tua
Thalassemia
Trait
Thalassemia Thalassemia
Normal Trait Mayor
Probability Thalassemia
Orang Tua
Orang Tua
Thalassemia
Thalassemia
Mayor
Trait
Thalassemia
Normal Trait
Pemeriksaan fisik
Sangat bervariasi (ringanberat)
Pucat
Gizi kurang
Pertumbuhan kurang/lambat
Facies mongoloid/ Cooley
Hepar dan limpa membesar
Fraktura patologis
Thalassemia Mayor
- Hb rendah / normal
- MCV <80fl dan MCH <27pg,
- Retikulosit agak meningkat
- Jumlah leukosit normal
- Hitung jenis normal
46
Pemeriksaan Hematologi
MCV : ukuran eritrosit dibandingkan dengan inti
limfosit kecil (Normal)
MCH : warna eritrosit atau content dari hemoglobin
RDW : perbedaan ukuran eritrosit.
Pemeriksaan Hematologi
RDW-SD:mengukur lebar kurva. Bila kurva makin lebar
makan RDW SD semakin lebar
Nilai Normal :
perempuan: 36.4 46.3fL
Laki-laki: 35.1 43.9fL
(x 1000) (x 1000)
Anisocytosis
Case 1 Case 2
RBC-Histogramm Messwerte
<RBC-Histogram> Measurement Data <RBC-Histogram> Measurement Data
RBC-Histogramm Messwerte
(x 1000) (x 1000)
Pemeriksaan laboratorium (2)
Sedian hapus darah tepi :
Khas, gambaran hemolitik kronik
- Mikrositik Hipokrom
- Anisositosis
- Poikilositosis
- Sel target
- Fragmentosit
- Eritrosit berinti (berat)
Gambaran Sediaan Hapus Thalassemia
Stomatocytosis Spheroscytosis
Pemeriksaan laboratorium (3)
Elektroforesis Hb
Analisa Hb (HPLC)
DCIP
Analisis DNA
Elektroforesis Hb
Diagram migrasi fraksi Hb hasil elektroforesa pada pH alkali & asam
H
Barts
+ Portland +
C
A
F Origin
H
S
S, D, G,
Lepore
A, A2, D, E, G, O
A2, E, C Lepore
S
F
C
A2
300 points with 15 zones Curve
Normal Hb Type
Beta thal heterozygote
Hb E heterozygoye
A2
Hb Constant Spring homozygote
Hb Barts
(Babys blood)
Hb Bart
Hb F
Hb A
Hb Barts
Alpha thalassemia with Hb H
Hb
Hb A
H
Alk.
A2
Hb H
Anh.
Hb A2 Car.
N
Badan Inklusi HbH
HbH adalah hemoglobin yang tidak stabil akan
mengalami denaturasi oksidatif dan presipitasi
jika eritrosit terpapar dengan zat warna new
methylene blue atau brilliant cresyl blue dan
membentuk gambaran seperti bola golf
70