CLINICAL HEMATOLOGY

February 4 to March 1, 2019

“Owren’s disease in combination with hemophilia A due to mutation present in

chromosome 18 of 5-year-old boy”

A Case study presented to the faculty of

Medical Laboratory Science
In partial fulfilment of the Internship Training for the
Degree of Bachelor in Medical Laboratory Science

Presented by: Romie Bren G. Solacito

Clinical Instructor: Glenn Charls L. Buelis, RMT, MLS (ASCPi)

Noel B. Tabat, RMT
Chris Israel N. Delatado, RMT
Title - “Owren’s disease in combination with hemophilia A due to mutation present in
chromosome 18 of 5-year-old boy”

I. Author
Romie Bren G. Solacito
Medical Technology Intern
University of the Immaculate Conception
Davao City
September 2018

II. Definition of Terms

Gingivitis – inflammation of the gums that is often accompanied by tenderness
and bleeding (Merriam-Webster, Inc.)
Autosomal Disorder - two copies of an abnormal gene must be present in order
for the disease or trait to develop (MedlinePlus Medical Encyclopedia).
Owren’s Disease - a congenital deficiency of factor V in the blood that is
associated with hemorrhagic diathesis and abnormally slow clotting time
(Merriam-Webster, Inc.).
Hemophilia - A medical condition in which the ability of the blood to clot is
severely reduced, causing the sufferer to bleed severely from even a slight
injury. The condition is typically caused by a hereditary lack of a coagulation
factor, most often factor VIII (Oxford Dictionaries).
III. Clinical History
Patient: Patient X/5-year-old/Male
Health History: Treated Kidney Cancer, Bleeding Disorder
Chief Complaint: 5-days Gingivitis

IV. Physical Examination

Physical Examination
Temperature Normal
Pulse Rate Normal
Blood Pressure Normal
V. Laboratory Findings
HEMATOLOGY REPORT – Day 1
RBC Count 4.53x106/uL 4.20 – 6.00x106/uL
Hemoglobin 11.4 g/dL 13.5 – 18.0 g/dL
MCV 81.3 fL 80 – 100 fL
MCH 27.2 pg 26 – 34 pg
MCHC 33.2% 32 – 36%
Platelet Count 273x103/uL 150 – 450x103/uL
Hematocrit 33.9% 40 – 54%
ESR 21 mm/hr 0 – 15 mm/hr
PT 16.2 sec 10 – 13 sec
APPT 75.7 sec 35 – 45 sec
Bleeding Time 16 minutes 2 – 9 minutes
Clotting Time 10 minutes 2 – 4 minutes
Factor VIII 27 IU/dL 50 – 150 IU/dL
WBC Count 10.8x103/uL 3.6 – 10.6x103/uL
- Neutrophil 32% 50 – 70%
- Lymphocyte 60% 18 – 42%
- Monocyte 2% 2 – 11%
- Basophil 1% 0 – 2%
- Eosinophil 5% 1 – 3%
HEMATOLOGY REPORT – Day 2
PT 15.7 sec 10 – 13 sec
APPT 73.2 sec 35 – 45 sec

VI. Discussion
The patient was diagnosed with an autosomal recessive inherited coagulopathy
called Owren’s Disease or also known as Parahemophilia. It is known to the patient
who are deficient to certain coagulation factor specifically Factor V or Proaccelerin.
Gingivitis is one of the signs and symptoms exhibited by the patient who are diagnosed
with this disease, and also it is accompanied with the presence of abnormal bleeding
under the skin, nosebleeds, easy bruising and even bleeding within organs like the
lungs or intestinal tract (Marcin, J., 2017). According to McPherson, R. A. et al. the
activated prothrombin time and prothrombin time is always prolonged when factor V
deficiency occur. Another is that patients with factor V deficiency should always
accompanied with factor VIII assay due to confirmed if the disease is combined with
factor VIII deficiency.

Owren’s disease’s clinical manifestations are much-a-like to those individuals that

are diagnosed with hemophilia. Abnormal bleeding time may occur to those people
who are deficient of platelet-borne factor V and seem to precipitate more clinical
problems than do decreases in plasma factor V levels. Among all the coagulation
studies performed only the platelet aggregation examination remains normal
(Steininger, C. A., 1992).
The 5-year-old boy’s case was inherited through his parents. In patient’s case
there are two ways to inherit the autosomal
recessive disease. According to Genetics
Home Reference both copies of the factor
V gene in each cell have mutations and
individuals with a mutation in a single copy
of the factor V gene have a reduced
amount of labile factor present in their
blood and can lead into bleeding episodes.
 Based on the statement of Steininger, C. A. it is demonstrated by homozygotes
and is mild to silent in heterozygotes. In our patient’s case the disease is demonstrated
and by it is passed by both carrier parents. This disease is categorized as rare kind of
deficiency and based on family history the patient is an offspring of an incest
relationship, where helps to trace the great inheritance of the disease.
In another group of patients, deficient factor V can be described as conjunction
with factor VIII:C (V – VIII deficiency) (Steininger, C. A., 1992). A rare autosomal
recessive disorder combined FV and FVIII deficiency is not from coinheritance of
defects in both FV and FVIII genes rather it is from a single gene defect. Disease may
occur due to null expression of LMAN1 or also known as ERGIC-53. LMAN1 function
as to facilitate protein trafficking through the secretion pathway. Another etiology
traced back then that the mutation of MCFD2 in chromosome 18 may also a factor of
disease due to its interaction with LMAN1. Epistaxis, easy bruising, menorrhagia, and
postpartum hemorrhage, as well as bleeding following surgery, dental extraction, and
trauma are some of the bleeding episodes manifested by those affected individuals
(McPherson, R. A. et al, 2016).
Transfusion of Fresh Frozen Plasma is a transfusion therapy to those patients who
are deficient with Factors II, V, VII, IX and X (Harmening, D., 2012). In our patient’s
case the administration of Fresh Frozen Plasma itself can be an intervention in
treatment to factor V deficiency only and not with V – VIII deficiency. According to
McPherson R. A. combined FV and FVIII deficiency may be treated by transfusion of
FVIII concentrates and Fresh Frozen Plasma. Fresh Frozen Plasma is used as
therapy due to labile in storage and the plasma supernatant fluid removed after
cryoprecipitates have formed in component preparations contains adequate levels of
factor V when fresh.
In conclusion, the patient’s condition is due to mutation in chromosome 18
inherited from his parents. This mutation can lead into development of combined FV
and FVIII deficiency where it is categorized as rare. Bloodlines with rare diseases can
easily transfer the mutated gene when incest relationship occur. Both of his parent is
a carrier with the mutated gene where there was a probability of 25% of their offspring
 may be affected. Transfusion of FVIII concentrate and Fresh Frozen Plasma maybe
the great intervention in treating the underlying disease.

VII. References
Genetics Home Reference. (n.d.). Factor V deficiency. Retrieved from
https://ghr.nlm.nih.gov/condition/factor-v-deficiency#inheritance

Harmening, D. M. (2012). Modern Blood Banking & Transfusion Practices (6th ed.).
Philadelphia, PA: F.A. Davis.

Marcin, J. (2017, February 10). Factor V Deficiency: Causes, Symptoms, and Diagnosis.
Retrieved from https://www.healthline.com/health/factor-v-deficiency#symptoms

McPherson, R.A., Pincus, M. R. (2017). Henry’s Clinical Diagnosis and Management by

Laboratory Methods (23rd ed.). Maryland Heights, MO: Saunders Elsevier.

Rodak, B. F., Fritsma, G. A., & Koehane, E. M. Hematology Clinical Principles and
Applications (4th ed.). St. Louis, MO: Elsevier Saunders, 2012.

Steininger, C. A., Koepke, J. A., & Stiene-Martin, A. E. (1992). Clinical Hematology:

Principles, Procedures, Correlations. Philadelphia, PA: Lippincott Williams &
Wilkins.