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Hemophilia and Thrombophilia

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Hemophilia and Thrombophilia Care

The area's only Pediatric Hemophilia and Thrombophilia Program, providing patients with blood disorders easy access to exceptional care.

Medical Office Building - 3rd floor
1447 Harper Street
Augusta, GA 30912
706-721-3626
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The Augusta University Pediatric Hemophilia Treatment Center is one of only 146 centers in the country and is the second-largest certified treatment center in the state of Georgia.

The Augusta University Pediatric Hemophilia Treatment Center is one of only 146 centers in the country and is the second-largest certified treatment center in the state of Georgia.

Why Choose Us

Does your child have frequent nosebleeds? Do you have a family history of bleeding or clotting disorders? The Pediatric Hemophilia and Thrombophilia Program at AU Health provides evaluation, diagnosis, treatment, and management of hemorrhagic and thrombotic disorders. We meet twice a month to provide a full range of care for pediatric patients, offering:

  • Expertise in blood disorders: Our hematologist-oncologists are fellowship-trained and board-certified; assisted by nurses specializing in hemophilia and thrombophilia.
  • Multidisciplinary care: When treating patients with blood disorders, many specialists need to be involved. We coordinate with hematologists, rheumatologists, surgeons, obstetrician-gynecologists, psychiatrists, orthopedists, genetic counselors, dentists, nutritionists, nurse managers, nurse clinicians, and physical therapists to ensure your child is getting the broad range of care they need.
  • Multiple in-house clinics: Blood disorder clinics are tailored to meet the needs of each patient. We provide a Hemophilia Clinic, Thrombophilia Clinic, Young Teens with Bleeding Disorders Clinic, Rare Bleeding Disorders Clinic, Transition of Care Journey Clinic, Bleeding Disorders Education and Training Clinic.
  • Treatments, training and education: Treatment options include, but are not limited to, factor-replacement infusions and hemlibra subcutaneous injections, that help promote clotting and prevent bleeding in our bleeding disorder patients. We provide education on each treatment option and train patients and families to administer treatments in-home.  For our clotting disorder patients, we provide education of both injection and oral treatment options for the prevention of blood clots.
  • Quick referrals: We send patients for additional care to pediatric dentists, orthopedic surgeons, neurologists, OBGYNs, and other physicians.

Bleeding Disorders

If you have a bleeding disorder, your blood does not clot properly. This could be due to having no (or a decreased amount of) "clotting factor"protein. Bleeding disorders can also be caused by a platelet defect - either a lack of platelets or a problem that causes your platelets to not “stick” together, or to the injured blood vessel, properly. Bleeding disorders we treat include:

  • Hemophilia A (factor VIII (8) deficiency)
  • Hemophilia B (factor IX (FIX) deficiency)
  • von Willebrand disease
  • Platelet function disorder
  • Immune thrombocytopenic purpura (ITP)
  • Factor I, II, V, VII, X, XIII deficiencies
  • Rare bleeding disorders

Clotting Disorders

Clotting disorders increase the risk of developing blood clots. Some clotting orders are inherited at birth and some are acquired later on in life. Blood clots can develop in any artery or vein - commonly arms, legs, and lungs. While 90% of people with clotting disorders never develop a clot, proper prevention, care, and treatment are important because blood clots are very dangerous. Clotting disorders we treat include:

  • Protein C deficiency
  • Protein S deficiency
  • Prothrombin 20210 mutation
  • Anti-phospholipid syndrome
  • Factor V Leiden
  • Antithrombin III deficiency
  • Lupus anticoagulant
  • Factor XII
  • Deep vein thrombosis (DVT)
  • COVID-19, MIS-C related thrombosis

Counseling and advocacy

Social workers are an important part of your child's care. We are here to:

  • Offer emotional support to help patients and families cope with the sadness and grief of a new diagnosis.
  • Provide counseling and crisis intervention to help patients deal with their disorder and other stressful life events.
  • Advocate on behalf of patients and families.
  • Help navigate medical systems that may be difficult to understand.
  • Assist with short and long term disability resources.

Emergency assistance

Social workers assist patients and family with:

  • Transportation to and from a patient’s appointment and with lodging assistance the night before the patient’s appointment.
  • Referring patients and families to community resources to help relieve the financial stresses associated with a patient’s medical diagnosis.
  • Providing resources to assist with paying for medical bills and other basis needs.
  • Finding financial assistance to help alleviate financial stresses associated with healthcare insurance premiums, deductibles, and co-pays.

Filing with insurance

We discuss health insurance resources available to patients and their families, including helping young patient’s transitioning into adulthood find available health insurance options. We'll educate you on how to obtain health insurance coverage either through assistance, private commercial insurance, or through the Affordable Care Act (ACA).

School and work

Having a bleeding disorder can affect day to day living, including school and work. Our social workers provide assistance with:

  • Arranging homebound instruction, a 504 plan, or Individualized Education Program (IEP). The 504 and IEP support students with disabilities by removing obstacles from learning in school.
  • School in-services to educate schools and teachers about the importance of being aware of, and providing care for, students with hemophilia and other blood disorders. 
  • Resources and scholarships that are available to the bleeding disorder community to assist with going to school.
  • Selecting jobs best suited for people with bleeding disorders. We'll also go over how you can reduce strain on joints and keep yourself healthy while working.

Transition care

Our nursing team supports patients (from ages 11 to 14) and their families as they adjust from a “pediatric-model" to an "adult-model" of care. This is an important step in teaching patients how to manage their blood condition as they get older.

Summer camp

  • Camp Wannaklot: Is a fun-filled, week-long, residential summer camp for children who have hemophilia or other inherited bleeding disorders. Camp Wannaklot is the only camp in Georgia that provides these children a traditional camp experience.

Afshin Ameri, MD
Professor, Hematology/ Oncology
Medical Director of Hemophilia/Thrombophilia Program
706-721-3626
AAMERI@augusta.edu

Joetta Smith, MSN-Ed, DNP, RN
Nurse Manager- Hemophilia Program
706-723-0015
joesmith@augusta.edu

Courtney Anderson, RN, MSN
Thrombophilia Nurse Clinician
706-723-0067
coanderson@augusta.edu

Merika Hawes, MSW
Hemophilia Social Worker
706-723-0011
mehawes@augusta.edu

Our newsletter

The Pediatric Hemophilia and Thrombophila Program publishes a quarterly newsletter to inform patients of the latest findings and offerings at AU Health.

Read the newsletter

Helpful websites

For a wide range of information on the different blood disorders.

Bleeding disorder information

Find out about bleeding disorders, including types of disorders, how they affect patients, blood product safety, and information on rare bleeding disorders.

Clotting disorder information

Find our more about clotting disorders, including information on genetics, cancer, travel tips, signs and symptoms, how they affect women, DVT and more.

Find Out More About Bleeding Disorders

Hemophilia A, also called factor VIII (8) deficiency or classic hemophilia, is a genetic disorder caused by missing or defective factor VIII (FVIII), a clotting protein.

 

Hemophilia B, also called factor IX (FIX) deficiency or Christmas disease, is a genetic disorder caused by missing or defective factor IX, a clotting protein. Hemophilia B.

An inheritable bleeding disorder.  People with VWD are either missing or low in the clotting protein von Willebrand factor (VWF), or it doesn’t work as it’s supposed to.

Von Willebrand disease (VWD)

Factor I (1) and Factor II (2) - Factor I and Factor II deficiency is inherited in an autosomal recessive fashion, which means that both parents must carry the gene to pass it on to their children.

Factor V (5) - The FV protein is a catalyst, accelerating the process by which prothrombin is converted to thrombin, the initial step in clot formation.  

Factor VII (7) - Factor VII or proconvertin, deficiency was first recognized in 1951. Considered the most common of rare bleeding disorders 

Factor X (10) - The factor X protein plays an important role in activating the enzymes that help to form a clot. It needs vitamin K for synthesis, which is produced by the liver.

Factor XI (11) - Severe FXI deficiency is inherited in an autosomal recessive pattern, meaning both parents must carry the mutated gene in order for their children to be affected.  

Factor XII (12) - deficiency is part of the bleeding cascade but no bleeding issues.

Factor XIII (13) - FXIII is composed of two parts called subunits (subunit A and subunit B). The subunit that is deficient or abnormal plays a role in determining your treatment plan. Most people who are affected with FXIII deficiency have a defect in subunit A.

 

  • Hereditary Hemorrhagic Telangiectasia/Osler-Weber- Rendu (HHT/OWR): HHT is a disorder in which some blood vessels do not develop properly.
  • Alpha 2 Antiplasmin Deficiency: Alpha 2-antiplasmin is a natural inhibitor of plasmin in human circulation and plays a key role in the regulation of fibrinolysis.
  • Glanzmann Thrombasthenia: People with Glanzmann's thrombasthenia have platelets that lack a protein (glycoprotein IIb/IIIa) that helps them stick together to form a clot.
  • Bernard-Soulier Syndrome (BSS): People with Bernard-Soulier syndrome have platelets that are very large -- larger than red or white blood cells -- and are missing a protein (lycoprotein lb) that helps them stick together to form a clot.
  • Storage Pool Disease: Rare disorders that occur when a person's platelet granules -- part of the platelet that are involved in the clotting process -- don't work at they should.

Release Defect, Platelet, and Platelet Function Disorder, hereditary and blood coagulation disorder with prolonged bleeding time. Inherited Platelet Disorders

Find Out More About Clotting Disorders

Factor V is a protein that helps blood clot. When the Factor V gene has the Leiden mutation it becomes resistant to being degraded and inactivated by Protein C and Protein S. This results in an increased level of Factor V, which increases the risk of blood clots. 

Prothrombin is a protein that helps blood clot. An increased production of prothrombin occurs when the Prothrombin gene has the G20210A mutation, which increases the risk of blood clots. Prothrombin G20210A Mutation

Protein C is a protein that helps prevent blood from clotting. In Protein C deficiency, there’s a decreased level of Protein C, which increases the risk of blood clots. For more information visit:

Protein S is a protein that helps prevent blood from clotting. In Protein S deficiency, there’s a decreased level of Protein S, which increases the risk of blood clots.

Antithrombin is a protein that helps prevent blood from clotting. In Antithrombin deficiency there’s a decreased level of antithrombin, which increases the risk of blood clots.

Lupus Anticoagulant is also called Antiphospholipid Antibody Syndrome (APS).  In APS antibodies are produced that attack phospholipids, which causes damage to endothelium of blood vessels and increase the risk of blood clots. Lupus anticoagulant

Factor XII is a protein that helps blood clot. In Factor XII deficiency there’s a decreased level of Factor XII, which increases the length of time it takes for the blood to clot. Factor XII is believed to predispose individuals to blood clots at an early age. For more information visit:

 VTE are blood clots. VTE includes but not limited to pulmonary embolism, thrombosis - abdominal vein (mesenteric, portal or renal), thrombosis - deep venous, thrombosis - deep venous lower extremity or pelvis, thrombosis - deep venous upper extremity or upper thorax.

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