Genetic Counseling for Patients with Blood Disorders

What is hematology genetic counseling?

Hematology is the treatment and study of blood. Blood is made up of many components that are essential for bleeding, clotting, fighting infection and delivering oxygen throughout the body. Blood disorders can impact one or more of these processes and lead to harmful effects and health concerns.

While many factors may play a role in developing a blood disorder, some conditions result from underlying genetic changes. Identifying a hereditary (genetic) blood disorder can help us deliver the best treatment for your child and treat the same condition in other family members or future children.

About hematology genetic counseling at Children’s Colorado

At the Center for Cancer and Blood Disorders and the Hemophilia & Thrombosis Center, we offer genetic counseling to families with hereditary conditions. Talking with a genetic counselor helps you understand the genetic aspects of the disorder your child has. Our genetic counselors:

• Assess your family’s chance of having a hereditary blood condition
• Explore available genetic testing options, review results and discuss implications
• Review how a condition is inherited and identify other family members who may also be impacted
• Consider what steps you can take to prevent and detect symptoms of the disease
• Evaluate reproductive health and options available to families with hereditary disorders
• Assess family members’ risk for blood conditions and suitability as blood marrow donors for your child, if needed
• Provide support resources and connections for families with the same or similar conditions
• Connect families to research opportunities when applicable

Our genetic counselors hold master’s degrees from training programs accredited by the American Board of Genetic Counselors (ABGC)/Accreditation Council for Genetic Counseling (ACGC). They are also ABGC board-certified and actively involved in the National Society of Genetic Counselors.

About our hematology and genetics multidisciplinary team

At Children’s Colorado, a multidisciplinary team of experts works with your family to help you understand hereditary blood disorders. Our combined expertise allows us to provide comprehensive care for children and their families. Our team includes:

• Genetic counselors: who help families understand and apply genetic information to their lives based on the family’s culture and values
• Hematologists: blood doctors who make medical recommendations and can diagnose medical conditions
• Psychosocial team members (social workers, psychologists, child life specialists): who provide mental health counseling, education, community resources and additional support with any concerns related to living with a blood disorder
• Nurse coordinators: who help your family monitor your child’s health and manage health concerns that come up between appointments
• Physical therapists: who provide treatment and education to prevent and heal injuries or pain caused by blood disorders

Who we serve

Our hematology genetics team cares for children through a variety of centers and clinics, including the Center for Cancer and Blood Disorders, the Hemophilia and Thrombosis Center and the Young Women’s Bleeding Clinic. We provide care for the following conditions and many others that are not listed:

Bone marrow failure syndromes and general hematology

• Aplastic anemia
• Ataxia-pancytopenia syndrome
• Congenital amegakaryocytic thrombocytopenia
• Diamond–Blackfan anemia
• Dyskeratosis congenita
• Fanconi anemia
• G6PD deficiency
• Gray platelet syndrome
• MIRAGE syndrome
• Myelodysplastic syndrome
• Myelofibrosis
• RUNX1 familial platelet disorder
• Sideroblastic anemia
• Thrombocytopenia-absent radius syndrome

Immuno-hematology

• Autoimmune hemolytic anemia
• Autoimmune lymphoproliferative syndrome
• Chronic granulomatous disease
• Common variable immunodeficiency
• Severe congenital neutropenia
• Shwachman–Diamond syndrome
• Wiskott–Aldrich syndrome

Coagulation and bleeding disorders

• Factor II deficiency
• Factor V deficiency
• Factor VII deficiency
• Factor VIII deficiency (hemophilia A)
• Factor IX deficiency (hemophilia B)
• Factor XI deficiency
• Glanzmann thrombasthenia
• Von Willebrand disease

Thrombosis and thrombophilia

• Antithrombin deficiency
• Dysfibrinogenemia
• Factor V Leiden
• Protein C deficiency
• Protein S deficiency
• Prothrombin thrombophilia
• Stroke

Hemoglobinopathies

• Sickle cell disease
• Thalassemias

Contact us

For more information about hematology genetic counseling, ask your hematology care team or primary care provider about making a referral for genetic counseling. You can also contact a genetic counselor directly at 720-777-9808 or CCBDGCs@childrenscolorado.org.