Pancytopenia is a reduction in red blood cells, white blood cells, and platelets in the blood, resulting from various factors including bone marrow failure and immune-mediated destruction. Diagnosis involves clinical examination and specific tests like CBC and bone marrow biopsy, while treatments may include transfusions, corticosteroids, and bone marrow transplants. Congenital causes, such as Fanconi anemia, present with additional clinical features including skeletal and renal abnormalities.

1. AbbasWael Abbas
Supervisor: Dr. Sultan Musleh

2.  Pancytopenia is a
 reduction in the number of 2 or more
▪ RBCs,
▪ WBCs and,
▪ platelets
 in the peripheral blood
 below the lower limits of the age-adjusted normal
range for healthy people.

3.  Therefore it is the combination of anemia,
leukopenia, and thrombocytopenia :-

4.  It may result from
 decreased production of blood cells or bone
marrow failure,
 immune-mediated destruction
 non-immune-mediated sequestration in the
periphery,
 Deficiency of factors stimulating haematopoiesis

5. • The diagnosis is made from the results of CBC,

7.  Congenital
 Fanconi’s Anemia
 Shwachman-Diamond syndrome

8.  Congenital aplastic anemia
 Etiology. autosomal recessive, defect in proteins
involved in DNA repair
 Clinical features
▪ bone marrow failure occurs at a mean age of 7 years.
Typical presentation is with ecchymosis and petechiae.
▪ Skeletal abnormalities; short stature in almost all
patients, and absence or hypoplasia of the thumb and
radius, microcephaly

9. ▪ Skin hyperpigmentation, café au lait spots
▪ Renal abnormalities; horseshoe or absent
kidney
▪ 10% of cases transform to luekemia

10.  pancytopenia, RBC macrocytosis, low
reticulocyte count, elevated Hgb F, and bone
marrow hypocellularity
 The diagnosis is based on demonstration of
increased chromosomal breakage after
exposure to agents that damage DNA

11.  transfusions of RBCs and platelets as needed
 bone marrow transplant from an HLA-
compatible donor
 Corticosteroids
 Androgenic therapy; 20% of cases

12.  Autosomal recessive
 clinical feature:
malabsorption, short stature caused by metaphyseal
chondrodysplasia, marrow failure and neutropenia.
recurrent infections

13. ▫ Mechanism : Decreased Marrow Production
• Conditions
▫ Cytotoxic Chemotherapy
▫ Radiation Therapy
▫ Megaloblastic anemia
▫ Bone Marrow Infiltration
▫ Viral Infections like CMV, EBV, HIV
▫ Hypersplenism
▫ Idiopathic Aplastic Anemia
▫ SLE, RA

14.  ‫والثالث‬ ‫التستماع‬ ‫حسن‬ ‫والثاني‬ ‫الصمت‬ ‫العلم‬ ‫أول‬
‫نشره‬ ‫والخامس‬ ‫به‬ ‫العمل‬ ‫والرابع‬ ‫حفظه‬

‫المنفلوطي‬ ‫لطفي‬ ‫مصطفى‬

15.  History
 Clinical Examination
 CBC
 Peripheral smear examination
 Bone Marrow Aspiration
 Bone Marrow Biopsy
 Other specific investigations

16.  Duration of symptoms
 H/o Transfusions
 H/o Haemoglobinuria
 Dietary history
 Family history
 Exposure to –
 Drugs ( sulfonamide, anticonvulsant, chloramphenicole)
 Chemicals
 Radiation
 Infections
 Weight loss, fever – malignancy & inflammatory
 Jaundice – Hep B & C
 Joint Pain – SLE
 Blood Loss

17. • A thorough physical exam is required, preferably by a
haematologist.
• Skin; petechiae, and purpura, hyperpigmintation
• Lymphadenopathy
• splenomegaly.

18. The following reference points to specific organ systems and
associated conditions and is helpful to guide the examination.
• Eye examination
▫ Jaundiced sclera (paroxysmal nocturnal hemoglobinuria,
hepatitis, cirrhosis)
▫ Epiphora (dyskeratosis congenita)
• Oral examination
▫ Stomatitis or cheilitis (neutropenia, vitamin B12 deficiency)
▫ Gingival hyperplasia (leukemia)
▫ Oral candidiasis or pharyngeal exudate (neutropenia, herpes
family virus infections)

19. • Cardiovascular examination
▫ Tachycardia, edema, congestive cardiac failure
▫ Exercise intolerance
▫ Systolic flow murmur
▫ Tachypnea (sign of symptomatic anemia)
• Abdominal examination
▫ Right upper quadrant tenderness (hepatitis)
• Musculoskeletal examination
▫ Short stature (Fanconi anemia, other congenital syndromes)
▫ Swelling/synovitis (SLE)
▫ Abnormal thumbs (e.g., Fanconi anemia)

20. • A CBC and examination of peripheral blood film by a
hematologist are essential. A standard battery of
evaluative tests may include:
▫ Serum reticulocyte count
▫ Serum LFTs
▫ Hepatic serology
▫ Serum coagulation profile, bleeding time, fibrinogen, and D-
dimer
▫ Coombs test
▫ Serum B12 and folate
▫ Serum HIV and nucleic acid testing.

21. Red Cell Morphology
 Normocytic normochromic with no anisopoikilocytosis, – Aplastic anemia
 Macro ovalocytes with Howell Jolly Bodies – Megaloblastic anemias
 Macrocytic – Fanconi anemia
WBCs
 Leucopenia (mostly mature ~80%) – Aplastic anemia
 Neutrophils present in increased number with toxic granules, shift to left –
Infections
 hypersegmented neutrophils – Megaloblastic anemia
 Blasts –leukemia
Platelets
 Giant platelets – MDS/ Hypersplenism

22. Aspiration and biopsy
 Hypocellular
 Cellular
 Bone marrow filtration

24.  thank you