1. Aplastic Anemia
Dr. Kalpana Malla
MD Pediatrics
Manipal Teaching Hospital
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3. APLASTIC ANEMIA:
• Failure of two or more cell lines
• Anaemia, leukopenia, thrombocytop
enia + Hypoplasia or aplasia of the
marrow
4. Pathology:
• Reduction in the amount of haemopoietic
tissue- inability to produce mature cells for
discharge into the bloodstream
• Patchy areas of normo/hypercellularity betn
areas of hypocellularity
7. FANCONI ANEMIA
• Familial
• AR
• M:F=1.3:1
• Onset in 1st decade of life
• Diminished capacity for DNA repair and
increased random chromosome breakage
during mitosis
8. C/F:
• Facies – microphthalmia,depressed nasal
bridge,epicanthic fold,micrognathia
• Hyperpigmentation, café-au-lait spots
• Absent / hypoplastic thumb
• Skeletal and renal lesions
• Short stature,
• Microcephaly , subnormal intelligence
• Hypogonadism,ano malies of urinary tract
• Predisposition to leukemias
• Poor prognosis
9. DYSKERATOSIS CONGENITA
• X-linked, AR, AD
• M:F= 4.3:1
• Hyperpigmentation
• Nail dystrophy, early loss of teeth
• Leukoplakia
• Ocular abnormalities: cataract etc
• Short stature but No skeletal/renal lesions
(diff from FA)
10. DIAMOND BLACKFAN SYNDROME
• Congenital pure red cell aplasia
• AD, AR, Sporadic
• Familial in 15 %
• 90 % diagnosed in 1st year of life
• Intrinsic defect in RBC, early apoptosis
• Macrocytic
anemia, reticulocytopenia, absence of RBC
precursors in an otherwise normocellular
bone marrow
11. DIAMOND BLACKFAN SYNDROME
• Eye - Wide set eyes, blue
sclera,glaucoma,epicanthic
fold,cataract,strabismus
• Thick upper,cleft lip palate in some cases
• lip,intelligent expression
• Upperlimb anomalies – flattening of thenar
eminence, Triphalangeal thumb
12. C/F:
• Profound anemia at 2-6 months of age
• Short stature
• Renal anomalies and hypogonadism maybe
present
14. PATHOPHYSIOLOGY
• Direct destruction of haemopoietic
progenitors
• Disruption of marrow micro-environment
• Immune –mediated suppression of marrow
elements
Cytotoxic T cells in blood and marrow
release gamma IFN and TNF -> inhibit early
and late progenitor cells
22. Management:
• Identification and elimination of underlying
cause
• Supportive therapy:
1. Red cell transfusion for anemia
2. Prevention and treatment of haemorrhage
3. Prevention and treatment of infection
23. SUPPORTIVE CARE
• Prophylactic antibiotics
• If infection: cephalosporins + aminoglycosides
+ metronidazole
• Antifungals: amphotericin B, fluconazole (if
fever >10 days despite antibiotics)
25. BONE MARROW TRANSPLANTATION
• Treatment of choice
• HLA matched donor. Usually siblings
• Long term survival rates: 60-70%
• Donor stem cells > 4 X 108 cells/kg
27. ATG administration:
• IV administration of Ig preparations containing
antibody to human thymocytes
• Improvement in haematological indices in
one-half of subjects
• Anaphylaxis
28. ATG AND ALG
• Dose : 40 mg/kg/day X 4 days
• Hematologic response rate 45%
• Survival rate 60%
• Side effects: serum sickness
29. ANDROGENS
• No longer have primary role
• Increase erythopoietin producion
• Stimulate erythroid stem cells
• Increase Hb levels in normal males
methyl testosterone, testesterone
enanthate, oxymetholone, danazol
Oral dose : 2-5mg/kg/day, IM dose: 1-2mg/kg/wk
Side effects: cholestatic jaundice, masculinization