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Case Presentation: Ahmad Adel A

This case presentation describes a 24-year-old female patient who was admitted to the hospital with symptoms of anemia including weakness, fatigue, and pale skin. Laboratory tests revealed pancytopenia with low red blood cell, white blood cell, and platelet counts. A bone marrow biopsy showed a hypocellular marrow with few hematopoietic cells. The patient was diagnosed with aplastic anemia based on the low cellularity and blood counts. Aplastic anemia is a rare disease where the bone marrow stem cells are damaged, leading to reduced blood cell production.

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roihan iqbal
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62 views20 pages

Case Presentation: Ahmad Adel A

This case presentation describes a 24-year-old female patient who was admitted to the hospital with symptoms of anemia including weakness, fatigue, and pale skin. Laboratory tests revealed pancytopenia with low red blood cell, white blood cell, and platelet counts. A bone marrow biopsy showed a hypocellular marrow with few hematopoietic cells. The patient was diagnosed with aplastic anemia based on the low cellularity and blood counts. Aplastic anemia is a rare disease where the bone marrow stem cells are damaged, leading to reduced blood cell production.

Uploaded by

roihan iqbal
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Case Presentation

Diagnostic Hematology

Ahmad Adel A.
• 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.
• 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.
• 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 %.
• CBC : Parameters result normal

RBC 3.32 x 1012/L 4.7 to 6.1 x 1012/L

HB 5.2 g/dL 13.0-18.0 g/dL

HCT 14.8% 40-52 %

MCV 98 Fl 80-97 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 1500-8000 /mm3

PLT 5000 /μL 150 - 400 x 103/μL


Blood smear

Normal
Blood smear

Pancytopenia and reticulocytopenia


• 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.
Bone
marrow
Bone marrow

Normal marrow
Bone marrow
Hypocellular with
increased fat spaces

Bone marrow cellularity <


25%.

Severely Reduced
Hematopoietic Stem Cell
Precursors In Bone
Marrow
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)).
Diagnosis

Aplastic Anemia
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 .
Classification
• Severe Aplastic Anemia • Very Severe Aplastic Anemia
• Patient must meet the following criteria: • Patient must meet the criteria
(a) Bone marrow cellularity < 25% for severe aplastic anemia and
Or have:
30-50% with < 30% residual Neutrophils < 0.2 x 109/L
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%
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.
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.
• 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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