College of Allied Medical Professions

Department of Medical Technology

Angeles University Foundation
Angeles City

A Formal Written Report for

Hematology 2 Laboratory:
Case Analysis
(Midterm Period)

Submitted by:
Fajutagana, Maria Clarice D.
Lusung, Joana Marie C.
Maniego, Ann-Clarisse L.
Sumera, Jayvee T.
Group 7
BSMT 3A

Submitted to:
Mrs. Mariecel B. Quiambao
Dr. Tristan Angelo Calaquian
(Hematology 2 Lab Professors)

December 3, 2015

HISTORY OF THE CASE

A 7-year-old African boy who had recently immigrated to the United States
from Liberia was taken to the emergency department because of a high fever.
Physical examination showed bilateral syndactyly and contractures of the fingers.
A CBC was ordered.
LABORATORY DATA:
RBC
Hematocrit
Hemoglobin
WBC
Platelets

2.1 x 1012/L
18%
6.0/dL
1.31x109/L
45 x 109/L

ANSWERS TO GUIDE QUESTIONS

1. What most likely is the diagnosis for this patient? Explain why.
The most likely diagnosis for this patient is Fanconis anemia.
Decreased red blood cells, white blood cells and platelets are indicative
of a deficiency of all bone marrow elements. This condition is called
pancytopenia. The developmental defects of thumb and radius are
suggestive of Fanconis Anemia. The childhood onset of pancytopenic
anemia further supports the diagnosis.
Fanconis anemia is a condition that affects many parts of the body.
People with this condition may have bone marrow failure, physical
abnormalities, organ defects, and an increased risk of certain cancers.
People with Fanconi anemia have impaired bone marrow function that
leads to a decrease in the production of all blood cells (aplastic anemia).
Affected individuals experience extreme tiredness (fatigue) due to low
numbers of red blood cells (anemia), frequent infections due to low
numbers of white blood cells (neutropenia), and clotting problems due to
low numbers of platelets (thrombocytopenia).
2. What are the causes of this disorder?
Fanconis anemia (FA) is an autosomal recessive disease
associated with chromosomal instability. FA is remarkable by its
phenotypic heterogeneity, which includes bone marrow failure, a variety
of congenital malformations, a propensity to develop acute myeloid
leukemia and cellular hypersensitivity to DNA cross-linking agents.

FA is characterized clinically by pancytopenia, progressive aplastic

anemia, diverse congenital malformations and above all, a marked
predisposition to develop AML. The congenital anomalies include skeletal
malformations (malformations of the thumb, radial hypoplasia,
microcephaly, hip dislocation, and scoliosis), skin pigmentation
(hypopigmentation or hyperpigmentation and caf-au-lait spots), short
stature, low birth weight, developmental delays, as well as urogenital,
renal and cardiac anomalies.
The symptoms associated with pancytopenia
apparent at 5 to 10 years of age; however, some
asymptomatic until adulthood. Adults with Fanconis
increased risk of developing solid tumors, particularly
and hepatic tumors.

usually become
patients may be
anemia have an
oral, esophageal,

3. What treatment can be given to the patient?

Hypersensitivity to alkylating or DNA crosslinking agents (e.g.
mitomycin C) is used as a standard laboratory assay to confirm the
diagnosis. Chromosomal breakage becomes more evident when the
cultures cells are challenged with alkylating and DNA cross-linking agents
such as mitomycin C and diepoxybutane.
Supportive treatment for cytopenia includes transfusions, androgens
and cytokines (granulocyte colony-stimulating factor and granulocyte
macrophage colony-stimulating factor). Currently the only curative
treatment for cytopenia is hematopoietic stem cell transplant, preferably
from an HLA-identical sibling. Patients still have an increased risk of
developing secondary malignancies eve after successful transplantation

REFERENCE/S:
Turgeon, M. (2005). Clinical Hematology: Theories and Procedures. Page
129.
Rodak, B. (2007). Hematology: Clinical Principles and Applications. Page
264.
Pincus, M. (2011). Henry's Clinical Diagnosis and Management by
Laboratory Methods. Page 569.
Keohane, E. (2015). Rodak's Hematology: Clinical Principles and
Applications. Page 337.