Hemophilia A

1. The Role of Blood Banking in the Diagnosis of
Hemophilia A
Brianna McKenna and Kimberly Campbell| MLT 1060-Immunohematology l Tiffany Gill | 10/03/2018
Abstract
Hemophilia A is an inherited bleeding disorder that causes the blood
not to clot properly. This can lead to complications when the person
is injured, has surgery, or has a tooth extracted. The patient can
also have spontaneous bleeding depending on how severe the
disorder is. To diagnosis the patient they must get a CBC, PT, aPTT,
fibrinogen, and a clotting factor test. Patients with factor VIII
deficiency will have prolonged aPTT, and the rest of the test will be
normal unless the patient had major bleeding or prolonged bleeding.
Blood banking plays an important role in identifying the patient’s
ABO&D type and any unexpected antibodies that might be in their
blood by doing an antibody screen and ID panel. This is done using
EDTA whole blood tube testing. Blood banking can also provide
replacement therapy for the treatment of the missing factors that is
compatible with the patient’s blood.
Pathophysiology
Hemophilia A is a deficiency in factor VIII due to an X-linked recessive
gene mutation
• Depending on the severity, it can affect the muscles, skin tissue,
joints, GI tract, and all internal organs.
• Swelling of the joints due to the blood not clotting can cause joint
pain and/or joint destruction over time.
• Bleeding into the muscles usually result in hematomas.
• Internal bleeding can cause damage to organs and is usually
apparent when there is blood in the urine or stool
• Brain bleeds can cause headaches, seizures and can result in death
if the bleeding is not stopped
• Hemophilia A can be expressed all racial group.
Required Specimen
• Proper collection procedure: Venipuncture
• EDTA whole blood tube (LAV top)
• Room temperature for up to 24 hours
• Greater than 24 hours, must be stored at 1-
10°C
• Must be used within 10 days
• Centrifuged
Tube Testing
Diagnostic Results Additional Testing Results
• Complete Blood Count (CBC): This will be normal unless the patient
has had heavy bleeding or has been bleed for a long period of time
• Activated Partial Thromboplastin Time (APTT) Test:: The time will be
longer with patients with hemophilia A
• Prothrombin Time (PT) Test: is usually normal with hemophilia A.
• Fibrinogen Test: is to test the patient’s ability to clot. This is usually
done with the other blood clotting test or if one of the previous blood
clotting tests were abnormal
• Clotting Factor Tests: for a healthy person the levels would be
around 50-100% of clotting factors VIII, mild case of hemophilia it
would be 5-50%, moderate case would be 1-5%, and severe case
would be less than 1%
Interfering Substances
Treatment
• Factor concentrates: clotting factors, such as factor VIII, are taken
from plasma, freeze-dried into powder, and used to treat the missing
factor in the patient. There are also genetically engineered factor
concentrates.
• Less commonly used are cryoprecipitates and fresh frozen plasma
(FFP)
References
Chronic Blood Loss Anemia. (n.d.). Retrieved from
http://cal.vet.upenn.edu/projects/clinhema/CASESTUDIES/CASE2/BLOODFI
LM/chronicbloodloss.html
Franchini, M., Coppola, A., Mengoli, C., Rivolta, G. F., Riccardi, F., Minno, G. D.,
. . . Ad, G. R. (2017, February). Blood Group O Protects against Inhibitor
Development in Severe Hemophilia A Patients. Retrieved October 2, 2018,
from https://www.ncbi.nlm.nih.gov/pubmed/27825181
Haemophilia: What To Eat And What To Avoid. (2018, May 17). Retrieved from
https://www.longevitylive.com/anti-aging-beauty/haemophilia-eat-avoid-
nutrition-bleed/
Hemophilia. (n.d.). Retrieved from https://www.nhlbi.nih.gov/health-
topics/hemophilia
Hemophilia. (2011, September 13). Retrieved from
https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html
Hemophilia A. (n.d.). Retrieved from
https://rarediseases.info.nih.gov/diseases/6591/hemophilia-
aLuOWHp4Y4ei14Y85_whole_blood_is_composed_of_plasma_and_formed
_elements.html
Klatt, E. C. (n.d.). Hematopathology. Retrieved from
https://library.med.utah.edu/WebPath/HEMEHTML/HEME024.html
Physiology Illustration: Whole blood is composed of plasma and formed
elements. - PhysiologyWeb. (n.d.). Retrieved from
http://www.physiologyweb.com/figures/physiology_illustration_mldtxQRJM8H
b5XTh
Treatment. (n.d.). Retrieved from
https://www.hog.org/handbook/article/3/29/plasma-derived-factor-concentrate
• Traditionally used for ABO & D testing and antibody screening
• Used to detect antibodies and antigens on red blood cells and
plasma
• Uses reagents to help identify what antibody/antigen is present
• Phases of testing: immediate spin, 37ºC, and AHG
• After centrifuging, check for agglutination (positive), hemolysis
(positive), or no reaction (negative)
• Blood Typing: No specific type
• Antibody Screening: Can be positive if the patient had RBC
transfusion
• Direct Antibody Test (DAT): Negative unless Hemophilia A is
Acquired and not inherited
• Antibody Identification: This can be positive if the patient had an
RBC transfusion
• Type O may help against inhibitor development, but further testing is
needed
A pre-analytical error can interfere with the results. These include:
• Not checking identification and using the wrong patient’s blood can
result in an acute hemolytic reaction when transfused
• Not having the correct ratio of blood to EDTA can cause errors in
the result and will be rejected
• Hemolysis from leaving the tourniquet on too long or vigorously
shaking will cause the specimen to be rejected