Anemia
• Reduction in red cell mass or blood
hemoglobin concentration, hematocrit or
erythrocyte count
WHO
Usia
6 bulan-59 bulan
5 - <12 tahun
12 - <15 tahun
Lelaki (>15 tahun)
Wanita (>15 tahun)
Wanita hamil
Hemoglobin (g/dL)
< 11
< 11,5
<12
< 13
< 12
< 11
Hematokrit (%)
< 33
< 35
< 36
< 39
< 36
< 33
WHO, 2007
Classification of Anemias
• Disorders of effective red cell production
– disorders of erythrocyte maturation: erythroblasts
die in situ before reaching the reticulocyte stage
– absolute failure of erythropoiesis: absolute
erythroblastopenia.
• Rapid erythrocyte destruction or red cell loss
Physiologic Classification of Anemia
1. Disorders of Red Cell Production
a. Marrow failure
i. Aplastic anemia
ii. Pure red cell aplasia: Diamond-Blackfan syndrome,
Transient erythroblastopenia
iii. Marrow replacement: malignancy
iv. Pancreatic insufficiency–marrow hypoplasia syndrome
b. Impaired erythropoietin production
i. Chronic renal disease
ii. Hypothyroidism, hypopituitarism
iii. Chronic inflammation
iv. Protein malnutrition
v. Hemoglobin mutants with decreased affinity for oxygen
Physiologic Classification of Anemia
2. Disorders of Erythroid Maturation & Ineffective
Erythropoiesis
a. Abnormalities in cytoplasmic maturation
i.
Iron deficiency
ii. Thalassemia syndromes
iii. Sideroblastic anemias
iv. Lead poisoning
b. Abnormalities in nuclear maturation
i.
Vitamin B12 deficiency
ii. Folic acid deficiency
iii. Thiamine-responsive megaloblastic anemia
iv. Hereditary abnormalities in folate metabolism
v. Orotic aciduria
c. Primary dyserythropoietic anemias (types I, II, III, IV)
d. Erythropoietic protoporphyria
e. Refractory sideroblastic anemia with vacuolization of marrow
precursors and pancreatic dysfunction/deficiency
Physiologic Classification of Anemia
3. Hemolytic Anemias
a. Defects in hemoglobin
a. Structural mutants
b. Synthetic mutants (thalassemia syndromes)
b. Defects in the red cell membrane
c. Defects in red cell metabolism
d. Antibody mediated
e. Mechanical injury to the erythrocyte
f. Thermal injury to the erythrocyte
g. Oxidant-induced red cell injury
h. Infectious agent–induced red cell injury
i. Paroxysmal nocturnal hemoglobinuria
j. Plasma lipid–induced abnormalities in the red cell
membrane
Classification of Anemias Based on Red Cell Size
Microcytic Anemias
• Iron deficiency
• Chronic lead poisoning
• Thalassemia syndromes
• Sideroblastic anemias
• Chronic inflammation
• Some congenital hemolytic anemias with unstable
hemoglobin
Classification of Anemias Based on Red Cell Size
Normocytic Anemias
• Congenital hemolytic anemias
– Hemoglobin mutants, Red cell enzyme defects,
Disorders of the red cell membrane
• Acquired hemolytic anemias
– Antibody mediated, Microangiopathic hemolytic
anemias, Secondary to acute infections
• Acute blood loss
• Splenic pooling
• Chronic renal disease (usually)
Classification of Anemias Based on Red Cell Size
Macrocytic Anemias
• With megaloblastic bone marrow
– Vitamin B12 deficiency, Folic acid deficiency,
Hereditary orotic aciduria, Thiamine-responsive
anemia
• Without megaloblastic bone marrow
– Aplastic anemia, Diamond-Blackfan syndrome,
Hypothyroidism, Liver disease, Bone marrow
infiltration, Dyserythropoietic anemias
Investigating anemia
• Is the patient bleeding (now or in the past)?
• Is there evidence for increased RBC
destruction (haemolysis)?
• Is the bone marrow suppressed?
• Is the patient iron deficient? If so, why?
• Is the patient deficient in folic acid or vitamin
B12? If so, why?
Investigating anemia
• Detailed history and physical examination
• Complete blood count:
– a one-cell line (red cell line)
– or part of a three-cell line abnormality (abnormality of red cell
count, white blood cell count and platelet count)
• Determination of the morphologic characteristics of the
anemia:
– blood smear
– consideration of MCV and RDW
– morphologic consideration of white blood cell and platelet
• Reticulocyte count as a reflection of erythropoiesis
• Determination if there is evidence of a hemolytic process
Classification of Nature of the Anemia Based on MCV and RDW
Iron-Deficiency Anemia
• Clinical Manifestations
–
–
–
–
–
pallor
glossistis
Cheilitis=inflammation/fissures of lips
Koilonychia
Weakness and fatigue
• Diagnostic Studies
– CBC. Blood smear
– Iron studies, reticulocyte
– Endoscopy/Colonoscopy
Iron-Deficiency Anemia
• Treatment
– Treatment of underlying disease/problem
– Replacing iron
• Diet
• Drug Therapy
– Oral iron
» Absorbed best in acidic environment
» GI effects
» 4-6 mg/kgBW/day
– Parenteral iron
» IM or IV
» Less desirable than PO
Iron-Deficiency Anemia
Management
• Assess cardiovascular & respiratory status
• Recognizing s/s bleeding
– Monitor stool, urine and emesis for occult blood
•
•
•
•
Diet teaching—foods rich in iron
Supplemental iron
Emphasize compliance
Iron therapy for 2-3 months after the hemoglobin
levels return to normal
β-thalassemia
DIAGNOSIS THALASSEMIA MAYOR
Presentasi klinis:
Pemeriksaan laboratorium:
Anamnesis:
Esensial:
1.
2.
3.
4.
 Darah tepi lengkapa
o Hemoglobin
o Sediaan apus darah tepi: mikrositer, hipokrom,
anisositosis, poikilositosis, sel eritrosit muda
(normoblast), fragmentosit, sel target.
o Indeks eritrosit (MCV, MCH, MCHC, RDW) bila tidak
ada cell counter, lakukan uji resistensi osmotik 1
tabung (fragilitas)
 Analisa hemoglobin:
1. Elektroforesis Hemoglobin
o Hb varian kuantitatif (elektroforesis cellulose
acetat membrane)
o HbA2 kuantitatif (metoda mikrokolom)
o HbF (alkali denaturasi modifikasi Betke 2 menit)
o HbH inclusion bodies (pewarnaan supravital /
retikulosit)
Atau
2. Metoda HPLC: Analisis kualitatif dan kuantitatif
Pada keadaan tertentu :
• Analisis DNA (molekuler)b
5.
6.
7.
8.
Pucat yang lama (kronis)
Mata tampak kuning
Mudah infeksi
Perut membesar akibat
hepatosplenomegali
Pertumbuhan terhambat/pubertas
terhambat.
Riw. fraktur patologis
Riw. keluarga menderita thalassemia
Riwayat transfusi berulang)
Pemeriksaan fisik
1.
2.
3.
4.
5.
6.
7.
8.
Anemia/pucat
Ikterus
Facies Cooley
Hepatosplenomegali
Gizi kurang/buruk
Perawakan pendek
Hiperpigmentasi kulit
Pubertas terlambat
Diagnosis Thalassemia (-)
Tetap curiga
 analisis
DNA
TIDAK curiga
 cari sebab
lain
D/: Thalassemia / (+)
- Mayor
- Intermediac
Pengobatan
Utama
Usaha
Pencegahan
Hukum Mendel
Aplastic Anemia
• Pancytopenia
– Decrease of all blood cell types
• RBCs
• White blood cells (WBCs)
• Platelets
– Hypocellular bone marrow
• Etiology
– Congenital: chromosomal alterations
– Acquired
• Exposure to ionizing radiation, chemical agents, viral and
bacterial infections
Aplastic Anemia
• Clinical Manifestations
– Gradual development
– Symptoms caused by suppression of any or all bone marrow
elements
– General manifestations of anemia
• Fatigue
• Dyspnea
• Pale skin
• Frequent or prolonged infections
• Unexplained or easy bruising
• Nosebleed and bleeding gums
• Prolonged bleeding from cuts
• Dizziness
• headache
Aplastic Anemia
• Diagnosis
– Blood tests
• CBC
– Bone marrow biopsy
Aplastic Anemia
• Treatment
– Identifying cause
– Blood transfusions
– Antibiotics
– Immunosuppressants
– Bone marrow transplantation
Morphology
1. Spherocytes
• Hereditary spherocytosis
• ABO incompatibility in neonates
• Immunohemolytic anemias with IgG- or C3-coated red cells
• Acute oxidant injury (hexose monophosphate shunt defects
during hemolytic crisis, oxidant drugs, and chemicals)
• Hemolytic transfusion reactions
• Clostridium welchii septicemia
• Severe burns, other red cell thermal injury
• Spider, bee, and snake venom
• Severe hypophosphatemia
• Hypersplenism
2. Target Cells
• Hemoglobins S, C, D, and E
• Hereditary xerocytosis
• Thalassemias
• (Other hypochromic-microcytic anemias)
• (Obstructive liver disease)
• (After splenectomy)
• (Lecithin–cholesterol acyltransferase deficiency)
3. Spiculated or Crenated Red Cells
• Acute hepatic necrosis (spur cell anemia)
• Uremia
• Red cell fragmentation syndromes
• Infantile pyknocytosis
• Embden-Meyerhof pathway defects
• Vitamin E deficiency
• Abetalipoproteinemia
• Heat stroke‡
• McLeod blood group
• (After splenectomy)
• (Transiently after massive transfusion of stored blood)
• (Anorexia nervosa)
4. Elliptocytes
• Hereditary elliptocytosis
• Thalassemias
• (Other hypochromic-microcytic anemias)
• (Megaloblastic anemias)
5. Stomatocytes
• Hereditary stomatocytosis
• Rhnull blood group
• Stomatocytosis with cold hemolysis
• (Liver disease, especially acute alcoholism)
• (Mediterranean stomatocytosis)
•
Diagrammatic representation of different types of poikilocyte
Normocyte