1. Case Presentation Diagnostic Hematology
Ahmad Adel A.

2. Patient A, a 24-year old female, was admitted to hospital with complaints of recurrent epistaxis, progressive weakness and shortness of breath with minimal physical effort. she has experienced recurrent fever reaching 38.2°C.
Upon physical examination she showed a pale skin, good nutritional status and no acute distress.
There's no lymphadenopathy or hepatosplenomegaly.
Many petechial hemorrhages cover her chest and legs.
Several bruises are found on her legs and thighs.
The patient denies sinus congestion, throat pain, cough, nausea, emesis, melena, or hematuria.

3. For the past 3 months, patient A's family physician has been following her recovery from viral hepatitis. her recovery was uneventful.
Her liver enzyme levels returning to normal within two months.
She has no past medical history, and there's no family history of hematological disorders.
Laboratory tests were ordered on admission.

4. Blood cells count showed a peripheral pancytopenia: - Hemoglobin 5
Blood cells count showed a peripheral pancytopenia: - Hemoglobin 5.2 g/dl, - White cell count 1200/mmc (neutrophils 570; lymphocytes 540, monocytes 80), - Platelets 5,000/mmc, - Reticulocytes < 1 %.

5. CBC : Parameters result normal RBC 3.32 x 1012/L 4.7 to 6.1 x 1012/LHB
5.2 g/dL
g/dL
HCT
14.8%
40-52 %
MCV
98 Fl fl
MCH
28 pg
27-31 pg
MCHC
33.6 g/dL
32-36 %
RDW
14 %
13 ± 15 %
WBC
1200 /μL
4,5-11 /μL
Neutrophil
570 /mm3
/mm3
PLT
5000 /μL
x 103/μL

6. Blood smear
Normal

7. Blood smear
Pancytopenia and reticulocytopenia

8. Patient A was referred to a hematologist who ordered a bone marrow examination.
The aspirate obtained was inadequate for evaluation.
Only a single site could be aspirated.
Preps made from the aspirate showed a markedly hypo-cellular marrow with very few hematopoietic cells.
Cells present consisted of lymphocyte, plasma cells, and stromal cells.
There's no malignant cells present.

9. Bone marrow

10. Bone marrow
Normal marrow

11. Bone marrow Hypocellular with increased fat spaces
Bone marrow cellularity < 25%.
Severely Reduced Hematopoietic Stem Cell Precursors In Bone Marrow

12. Diagnosis
Involves low counts in 2 of 3 cell lines: red blood cells (RBC), white blood cells (WBC), platelets.
Bone marrow cellularity is too low.
• No evidence of damage or mutation to the stem cell pool (NORMAL cytogenetic). • No dysplasia. ** (If dysplasia or abnormal cytogenetic seen, think myelodysplastic syndrome (MDS)).
Myelodysplastic syndromes (MDS) are a group of cancers in which immature blood cells in the bone marrow do not mature and therefore do not become healthy blood cells. By “Wright-Giemsa stained smears”.
MDS: 15% hypocellular, others is hyper.

13. Diagnosis
Aplastic Anemia

14. Aplastic Anemia
Aplastic Anemia is a rare disease caused by a decrease in or damage to marrow stem cells, damage to the microenvironment within the marrow, and replacement within the marrow with fat.
The precise etiology is unknown, but it's hypothesized that the body's T-cell mediate inappropriate attack against the bone marrow, result in bone marrow aplasia .

15. Classification Severe Aplastic Anemia
Patient must meet the following criteria: (a) Bone marrow cellularity < 25% Or % with < 30% residual hematopoietic cells (b) Two of three of the following: (1) Neutrophils < 0.5 x 109/L (2) Platelets < 20 x 109/L (3) Reticulocytes < 1%
Very Severe Aplastic Anemia
Patient must meet the criteria for severe aplastic anemia and have: Neutrophils < 0.2 x 109/L

16. Causes
In about 50% of cases, aplastic anemia is considered to be idiopathic, meaning that the cause of the disease is unknown.
Acquired aplastic anemia (environmental factors and physical conditions):
- radiation or chemotherapy. - medications: chloramphenicol, sulfonamides.
Genetic (Inherited) disorders: Fanconi anemia.
Autoimmune diseases.
Viruses: EBV, HIV, and Hepatitis virus.

18. Fanconi anemia
Fanconi anemia (FA) is a rare genetic disease resulting in impaired response to DNA damage.
FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair.
Among those affected, the majority develop cancer, most often acute myelogenous leukemia, and 90% develop bone marrow failure by age 40.
About 60–75% of people have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% of people have some form of endocrine problems, with varying degrees of severity.
Tetracycline , and aminoglycoside> induce Fanconi syndrome.

19. FA is primarily an autosomal recessive genetic disorder.
This means that two mutated alleles (one from each parent) are required to cause the disease.
Scientists have identified 17 FA or FA-like genes: FANCA, FANCB, FANCC, FANCD1 (BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (BRIP1), FANCL, FANCM, FANCN (PALB2), FANCP (SLX4), FANCS (BRCA1), RAD51C and XPF.

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